Sant Pau - Institut de Recerca

Main lines of research

Biomarkers in Alzheimer disease and other neurodegenerative dementias:
- CSF biomarkers in Alzheimer disease, dementia with Lewy bodies and frontotemporal dementia.
- Amyloid imaging in neurodegenerative dementias.
- Novel MRI markers in preclinical Alzheimer disease.
Biomarkers of Alzheimer disease in Down syndrome.
Molecular basis of neurodegenerative diseases.

Challenges

Maintain and increase scientific production and funding in the next 5 years.
Develop a training plan for researchers entering the group while maintaining its translational nature.
Establish new cooperation agreements to increase number of applications for European and international projects.
Establish links with technological innovation groups and companies to foster patent applications and contracts.

Scientific Report of the Group: 2017 Scientific Report – Genetics in Neurodegenerative Diseases

Group coordination

FORTEA ORMAECHEA, JUAN FGS
jfortea@santpau.cat

Members

Alcolea Rodriguez, Daniel Andres FGS
Alvarez Sanchez, Esther IR
Arranz Martinez, Javier FGS
Arriola Infante, Jose Enrique IR
Aumatell Escabias, Joaquim IR
Bejanin, Alexandre Pierre Armand IR
Belvis Nieto, Robert FGS
Bueno Lopez, Ana IR
Canovas Segura, Ana Belen IR
Carmona Iragui, Maria FGS
Clos Batet, Susana IR
Del Hoyo Soriano, Laura IR
Dols Icardo, Oriol IR
El Bachiri Azzahchi, Sumia IR
El Bounasri El Bennadi, Shaimaa IR
Farre Maduell, Ariadna IR
Filella Merce, Julia IR
Garcia Castro, Jesus IR
Garcia Hernandez, Estefania IR
Gellida Castan, Elia IR
Gimenez Badia, Sandra FGS
Illan Gala, Ignacio FGS
Lleo Bisa, Alberto FGS
Lorente Gordillo, Oriol IR
Marques Kiderle, Sonia Karin IR
Maure Blesa, Lucia IR
Morcillo Nieto, Alejandra Omaira IR
Mota Rodriguez, Cecilia IR
Muñoz Llahuna, Laia IR
Palmieri, Marisa Alejandra IR
Reyes Santiago, Daniel CIBERNED
Ribosa Nogue, Roser IR
Rodriguez Baz, Iñigo IR
Rozalem Aranha, Mateus IR
Rubio Guerra, Sara FGS
Sala Matavera, Isabel FGS
Sanchez Aced, Erika IR
Sanchez Lopez, Oriol CIBERNED
Sanchez Saudinos, Maria Belen IR
Sanjuan Hernandez, Aida IR
Santos Santos, Miguel Angel FGS
Selma Gonzalez, Judit IR
Sirisi Dolcet, Sonia IR
Subirana Castillo, Andrea IR
Torres Alcala, Soraya IR
Valldeneu Castells, Silvia IR
Valle Tamayo, Natalia IR
Vaque Alcazar, Lidia IR
Vera Campuzano, Elena IR
Videla Toro, Laura IR
Zhu, Nuole FGS
Zsadanyi, Sara Erzsebet IR

Publications 2022

(JIF 2022)

Ali M, Sung YJ, Wang F, Fernández MV, Morris JC, Fagan AM, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleó A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez M, Morenas E, Kleinberger G, Haass C, Ewers M, Levin J, Farlow MR, Perrin RJ, Cruchaga C. Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk. PLoS One. 2022; 17:e0267298. DOI:10.1371/journal.pone.0267298. PMID:35617280. IF:3,7 (Q2/4D). Document type: Article.
Altuna M, Larumbe R, Zelaya MV, Moreno S, Garcia V, Mendioroz M, Ramos MA, Erro ME. Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization. JOURNAL OF NEUROLOGY. 2022; 269(9). DOI:10.1007/s00415-022-11125-8. PMID:35438347. IF:6,6 (Q1/2D). Document type: Article.
Altuna M, Olmedo G, Carmona M, Fortea J. Mechanisms Involved in Epileptogenesis in Alzheimer’s Disease and Their Therapeutic Implications. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(8):4307. DOI:10.3390/ijms23084307. PMID:35457126. IF:5,6 (Q1/3D). Document type: Review.
Altuna M, Ruiz I, Zelaya MV, Mendioroz M. Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review. Medicina-Lithuania. 2022; 58(4):473. DOI:10.3390/medicina58040473. PMID:35454316. IF:2,6 (Q3/6D). Document type: Review.
Aranha MR, Fortea J, Carmona M. Cerebral Amyloid Angiopathy-Related Inflammation in Down Syndrome-Related Alzheimer Disease. NEUROLOGY. 2022; 98(24). DOI:10.1212/WNL.0000000000200704. PMID:35470138. IF:9,9 (Q1/1D). Document type: Editorial material.
Baque L, Machuca MJ, Santos MA. Preliminary study of the temporal variables of continuous speech in patients with neurodegenerative syndromes of the frontotemporal lobar degeneration spectrum. REVISTA DE NEUROLOGIA. 2022; 74(2). DOI:10.33588/rn.7402.2021197. PMID:35014018. IF:1,2 (Q4/10D). Document type: Article.
Baumer NT, Becker ML, Capone GT, Egan K, Fortea J, Handen BL, Head E, Hendrix JE, Litovsky RY, Strydom A, Tapia IE, Rafii MS. Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group. Journal of Neurodevelopmental Disorders. 2022; 14(1):22. DOI:10.1186/s11689-022-09435-z. PMID:35321660. IF:4,9 (Q1/3D). Document type: Review.
Bellenguez C, Kucukali F, Jansen IE, Kleineidam L, Moreno S, Amin N, Naj AC, Campos R, Grenier B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, De Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia P, Abdelnour C, Alarcon E, Alcolea D, Alegret M, Alvarez I, Alvarez V, et al. [Alcolea D, Fortea J, Lleo A]. New insights into the genetic etiology of Alzheimer’s disease and related dementias. NATURE GENETICS. 2022; 54(4). DOI:10.1038/s41588-022-01024-z. PMID:35379992. IF:30,8 (Q1/1D). Document type: Article.
Benejam B, Aranha MR, Videla L, Padilla C, Valldeneu S, Fernandez S, Altuna M, Carmona M, Barroeta I, Iulita MF, Montal V, Pegueroles J, Bejanin A, Gimenez S, Gonzalez S, Videla S, Bartres D, Alcolea D, Blesa R, Lleo A, Fortea J. Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease. Alzheimers Research & Therapy. 2022; 14(1):123. DOI:10.1186/s13195-022-01064-x. PMID:36057615. IF:9 (Q1/1D). Document type: Article.
Borras C, Mercer A, Sirisi S, Alcolea D, Escola JC, Blanco F, Tondo M. HDL-like-Mediated Cell Cholesterol Trafficking in the Central Nervous System and Alzheimer’s Disease Pathogenesis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(16):9356. DOI:10.3390/ijms23169356. PMID:36012637. IF:5,6 (Q1/3D). Document type: Review.
Budin I, Mowinckel AM, Friedman BB, Ebmeier KP, Drevon CA, Carver RB, Zsoldos E, Fredheim N, Sorensen O, Baare WFC, Madsen KS, Fjell AM, Kievit RA, Ghisletta P, Bartres D, Nawijn L, Sole C, Walhovd KB, Duzel S, Zasyekina L, Iulita MF, Ferretti MT. Public perceptions of brain health: an international, online cross-sectional survey. BMJ Open. 2022; 12(4):e057999. DOI:10.1136/bmjopen-2021-057999. PMID:35437254. IF:2,9 (Q2/5D). Document type: Article.
Capítulo 18: La enfermedad de Alzheimer Asociada al síndrome de Down. Autores: María Carmona Iragui y Juan Fortea. Libro: La vida adulta en el síndrome de Down-Editorial: Fundación Iberoamericana Down 21. Coordinador: Jesús Florez. ISBN: 978-84-09-36885-3. Document type: Book chapter.
del Campo M, Peeters CFW, Johnson ECB, Vermunt L, Hok YS, van M, Chen A, Irwin DJ, Hu WT, Lah JJ, Seyfried NT, Dammer EB, Herradon G, Meeter LH, van J, Alcolea D, Lleó A, Levey AI, Lemstra AW, Pijnenburg YAL, Visser PJ, Tijms BM, van der Flier WM, Teunissen CE. CSF proteome profiling across the Alzheimer’s disease spectrum reflects the multifactorial nature of the disease and identifies specific biomarker panels. Nature Aging. 2022; 2(11). DOI:10.1038/s43587-022-00300-1. Document type: Article.
del Campo M, Zetterberg H, Gandy S, Onyike CU, Oliveira F, Udeh C, Lleo A, Teunissen CE, Pijnenburg Y. New developments of biofluid-based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia. Alzheimers & Dementia. 2022; 18(11):12643. DOI:10.1002/alz.12643. PMID:35235699. IF:14 (Q1/1D). Document type: Review.
Delaby C, Alcolea D, Hirtz C, Vialaret J, Kindermans J, Morichon L, Fortea J, Belbin O, Gabelle A, Blennow K, Zetterberg H, Lleo A, Lehmann S. Blood amyloid and tau biomarkers as predictors of cerebrospinal fluid profiles. JOURNAL OF NEURAL TRANSMISSION. 2022; 129(2). DOI:10.1007/s00702-022-02474-9. PMID:35169889. IF:3,3 (Q2/5D). Document type: Article.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments contribution in clinic: state of the art. Frontiers in Aging Neuroscience. 2022; 14:1034684. DOI:10.3389/fnagi.2022.1034684. PMID:36389064. IF:4,8 (Q2/3D). Document type: Article.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments: a key new biomarker for clinicians Part 1: Importance of neurofilaments in the management of neurodegenerative diseases. ANNALES DE BIOLOGIE CLINIQUE. 2022; 80(5). DOI:10.1684/abc.2022.1757. PMID:36453742. IF:0,5 (Q4/10D). Document type: Review.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments: a key new biomarker for clinicians Part 2: Neurofilaments, an asset beyond neurodegenerative diseases. ANNALES DE BIOLOGIE CLINIQUE. 2022; 80(5). DOI:10.1684/abc.2022.1758. PMID:36453743. IF:0,5 (Q4/10D). Document type: Review.
Delaby C, Estelles T, Zhu NU, Arranz J, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Tondo M, Blanco F, Lehmann S, Belbin O, Blesa R, Fortea J, Lleo A, Alcolea D. The A beta 1-42/A beta 1-40 ratio in CSF is more strongly associated to tau markers and clinical progression than A beta 1-42 alone. Alzheimers Research & Therapy. 2022; 14(1):20. DOI:10.1186/s13195-022-00967-z. PMID:35105351. IF:9 (Q1/1D). Document type: Article.
Delaby C, Teunissen CE, Blennow K, Alcolea D, Arisi I, Amar EB, Beaume A, Bedel A, Bellomo G, Bigot E, Bjerke M, Blanc MC, Boada M, Bousiges O, Chapman MD, DeMarco ML, D’Onofrio M, Dumurgier J, Dufour D, Engelborghs S, Esselmann H, Fogli A, Gabelle A, Galloni E, Gondolf C, Grandhomme F, Grau O, Hart M, Ikeuchi T, Jeromin A, Kasuga K, Keshavan A, et al. [Lleo A]. Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer’s disease: An international overview. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12545. PMID:34936194. IF:14 (Q1/1D). Document type: Article.
Ferrer R, Zhu N, Arranz J, Porcel I, El Bounasri S, Sanchez O, Torres S, Julve J, Lleo A, Blanco F, Alcolea D, Tondo M. Importance of cerebrospinal fluid storage conditions for the Alzheimer’s disease diagnostics on an automated platform. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2022; 60(7). DOI:10.1515/cclm-2022-0134. PMID:35405043. IF:6,8 (Q1/2D). Document type: Article.
Friedberg A, Pasquini L, Diggs RT, Glaubitz EA, Lopez L, Brown JA, Rankin KP, Allen IE, La Joie R, Iaccarino L, Mundada NS, Illán I, Bonham LW, Yokoyama JS, Miller ZA, Rabinovici GD, Kramer JH, Rosen HJ, Tempini MLG, Seeley WW, Miller BL. Emergence of visual artistic creativity in frontotemporal dementia. Alzheimers & Dementia. 2022; 18. DOI:10.1002/alz.065202. PMID:36537928. IF:14 (Q1/1D). Document type: Review.
Garcia C, Calabria M, Grunden N, Pons C, Arroyo JA, Gomez B, Lleo A, Alcolea D, Belvis R, Morollon N, Mur I, Pomar V, Domingo P. Neuropsychological deficits in patients with cognitive complaints after COVID-19. Brain and Behavior. 2022; 12(3):e2508. DOI:10.1002/brb3.2508. PMID:35137561. IF:3,1 (Q2/3D). Document type: Article.
Gimenez S, Farre A, Morente F, Videla L, Gutierrez M, Clos S, Fernandez A, Blanco M, Altuna M, Pegueroles J, Asensio A, Benejam B, Batista M, Barroeta I, Fortuna A, Fortea J, Mayos M. Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer’s Disease. Frontiers in Neuroscience. 2022; 16:838412. DOI:10.3389/fnins.2022.838412. PMID:35431793. IF:4,3 (Q2/4D). Document type: Article.
Gobom J, Parnetti L, Rosa P, Vyhnalek M, Gauthier S, Cataldi S, Lerch O, Laczo J, Cechova K, Clarin M, Benet AI, Pascoal TA, Rahmouni N, Vandijck M, Huyck E, Le N, Stevenson J, Chamoun M, Alcolea D, Lleo A, Andreasson U, Verbeek MM, Bellomo G, Rinaldi R, Ashton N, Zetterberg H, Sheardova K, Hort J, Blennow K. Validation of the LUMIPULSE automated immunoassay for the measurement of core AD biomarkers in cerebrospinal fluid. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2022; 60(2). DOI:10.1515/cclm-2021-0651. PMID:34773730. IF:6,8 (Q1/2D). Document type: Article.
Gómez de San José N, Goossens J, Al Shweiki MR, Halbgebauer S, Oeckl P, Steinacker P, Danzer KM, Graf H, Schönfeldt C, Belbin O, Lleó A, Vanmechelen E, Otto M. Glutamate receptor 4 as a fluid biomarker for the diagnosis of psychiatric disorders. JOURNAL OF PSYCHIATRIC RESEARCH. 2022; 156. DOI:10.1016/j.jpsychires.2022.10.010. PMID:36323141. IF:4,8 (Q2/4D). Document type: Article.
Gonzalez AC, Belbin O. Fluid markers of synapse degeneration in synucleinopathies. JOURNAL OF NEURAL TRANSMISSION. 2022; 129(2). DOI:10.1007/s00702-022-02467-8. PMID:35147800. IF:3,3 (Q2/5D). Document type: Review.
Gonzalez AC, Irwin DJ, Alcolea D, McMillan CT, Chen A, Wolk D, Sirisi S, Dols O, Querol M, Illan I, Santos MA, Fortea J, Lee EB, Trojanowski JQ, Grossman M, Lleo A, Belbin O. Multimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration. Molecular Neurodegeneration. 2022; 17(1):29. DOI:10.1186/s13024-022-00534-y. PMID:35395770. IF:15,1 (Q1/1D). Document type: Article.
Gutiérrez R, Diez I, Bueichekú E, Kim C-M, Orwig W, Montal V, Fuentes B, Díez E, Fernández MG, Sepulcre J. Connectomic-genetic signatures in the cerebral small vessel disease. NEUROBIOLOGY OF DISEASE. 2022; 167:105671. DOI:10.1016/j.nbd.2022.105671. PMID:35231560. IF:6,1 (Q1/2D). Document type: Article.
Hampel H, Elhage A, Shaw LM, Aisen P, Chen C, Lleo A, Iwatsubo T, Iwata A, Yamada M, Ikeuchi T, Jia JP, Wang HL, Teunissen CE, Peskind E, Blennow K, Cummings J, Vergallo A. The use of lumbar puncture and safety recommendations in Alzheimer’s disease: a plain language summary. Neurodegenerative Disease Management. 2022; 12(5). DOI:10.2217/nmt-2022-0012. PMID:35866715. Document type: Article.
Hampel H, Shaw LM, Aisen P, Chen C, Lleo A, Iwatsubo T, Iwata A, Yamada M, Ikeuchi T, Jia JP, Wang HL, Teunissen CE, Peskind E, Blennow K, Cummings J, Vergallo A. State-of-the-art of lumbar puncture and its place in the journey of patients with Alzheimer’s disease. Alzheimers & Dementia. 2022; 18(1). DOI:10.1002/alz.12372. PMID:34043269. IF:14 (Q1/1D). Document type: Review. Document type: Article.
Hatton C, Ghanem SS, Koss DJ, Abdi IY, Gibbons E, Guerreiro R, Bras J, Walker L, Gelpi E, Heywood W, Outeiro TF, Attems J, McFarland R, Forsyth R, El OM, Erskine D, LLEO A, Int Genetics Consortium DLB. Prion-like alpha-synuclein pathology in the brain of infants with Krabbe disease. 2022; 145(4). DOI:10.1093/brain/awac002. PMID:34999780. IF:14,5 (Q1/1D). Document type: Article.
Holstege H, Hulsman M, Charbonnier C, Grenier B, Quenez O, Grozeva D, van JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossu P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernandez MV, et al. [Lleo A]. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. NATURE GENETICS. 2022; 54(12). DOI:10.1038/s41588-022-01208-7. PMID:36411364. IF:30,8 (Q1/1D). Document type: Article.
Homann J, Osburg T, Ohlei O, Dobricic V, Deecke L, Bos I, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Wittig M, Franke A, Lill CM, Blennow K, Zetterberg H, Lovestone S, Streffer J, ten M, Vos SJB, Barkhof F, Visser PJ, Bertram L. Genome-Wide Association Study of Alzheimer’s Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery Dataset. Frontiers in Aging Neuroscience. 2022; 14:840651. DOI:10.3389/fnagi.2022.840651. PMID:35386118. IF:4,8 (Q2/3D). Document type: Article.
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, Apoil M, Boulanger M, Viader F, Kumar S, Srikanth V, Khurram A, Fazekas F, Bruno V, Zipfel GJ, Refai D, Rabinstein A, Graff J, Werring DJ. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3)DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF:6,6 (Q1/2D). Document type: Article.
Illan I, Montal V, Borrego S, Mandelli ML, Falgas N, Welch AE, Pegueroles J, Santos M, Bejanin A, Alcolea D, Dols O, Belbin O, Sanchez MB, Bargallo N, Gonzalez S, Llado A, Blesa R, Dickerson BC, Rosen HJ, Miller BL, Lleo A, Gorno ML, Sanchez R, Fortea J. Cortical microstructure in primary progressive aphasia: a multicenter study. Alzheimers Research & Therapy. 2022; 14(1):27. DOI:10.1186/s13195-022-00974-0. PMID:35139897. IF:9 (Q1/1D). Document type: Article.
Illan I, Nigro S, VandeVrede L, Falgas N, Heuer HW, Painous C, Compta Y, Marti MJ, Montal V, Pagonabarraga J, Kulisevsky J, Lleo A, Fortea J, Logroscino G, Quattrone A, Quattrone A, Perry DC, Gorno ML, Rosen HJ, Grinberg LT, Spina S, La Joie R, Rabinovici GD, Miller BL, Rojas JC, Seeley WW, Boxer AL. Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration. JAMA Network Open. 2022; 5(4):e229588. DOI:10.1001/jamanetworkopen.2022.9588. PMID:35486397. IF:13,8 (Q1/1D). Document type: Article.
Iulita MF, Chavez DG, Christensen MK, Tamayo NV, Plana O, Rasmussen SA, Figuls MR, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona M, Blesa R, Lleo A, Bejanin A, Fortea J. Association of Alzheimer Disease with Life Expectancy in People with Down Syndrome. JAMA Network Open. 2022; 5(5):e2212910. DOI:10.1001/jamanetworkopen.2022.12910. PMID:35604690. IF:13,8 (Q1/1D). Document type: Article.
Jansen RE, van der Lee SJ, Gomez D, de Rojas I, Dalmasso MC, Grenier B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Kucukali F, Sung YJ, Tesi N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, et al. [Dols O, Fortea J, Lleo A]. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers. ACTA NEUROPATHOLOGICA. 2022; 144(5). DOI:10.1007/s00401-022-02454-z. PMID:36066633. IF:12,7 (Q1/1D). Document type: Article.
Jansen WJ, Janssen O, Tijms BM, Vos SJB, Ossenkoppele R, Visser PJ, Alcolea D, Amyloid Biomarker Study GRP. Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum. JAMA Neurology. 2022; 79(3). DOI:10.1001/jamaneurol.2021.5216. PMID:35099509. IF:29 (Q1/1D). Document type: Article.
Janssen O, Jansen WJ, Vos SJB, Boada M, Parnetti L, Gabryelewicz T, Fladby T, Molinuevo JL, Villeneuve S, Hort J, Epelbaum S, Lleo A, Engelborghs S, van der Flier WM, Landau S, Popp J, Wallin A, Scheltens P, Rikkert MO, Snyder PJ, Rowe C, Chetelat G, Ruiz A, Marquie M, Chipi E, Wolfsgruber S, Heneka M, Boecker H, Peters O, Jarholm J, Rami L, Tort A, Binette AP, Poirier J, Rosa P, Cerman J, Dubois B, Teichmann M, Alcolea D, Fortea J, Sanchez MB, Ebenau J, Pocnet C, Eckerstrom M, Thompson L, Villemagne V, Buckley R, Burnham S, Delarue M, Freund Y, Wallin AK, Ramakers I, Tsolaki M, Soininen H, Hampel H, Spiru L, Tijms B, Ossenkoppele R, Verhey FRJ, Jessen F, Visser PJ. Characteristics of subjective cognitive decline associated with amyloid positivity. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12512. PMID:34877782. IF:14 (Q1/1D). Document type: Article.
Kaivola K, Shah Z, Chia R, Scholz SW, Alcolea D, Clarimón J, Fortea J, Lleó A, Int Genomics Consortium LBD. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. 2022; 145(5). DOI:10.1093/brain/awab402. PMID:35381062. IF:14,5 (Q1/1D). Document type: Article.
Koutsouleris N, Pantelis C, Velakoulis D, McGuire P, Dwyer DB, Urquijo MF, Paul R, Sen D, Popovic D, Oeztuerk O, Kambeitz J, Salokangas RKR, Hietala J, Bertolino A, Brambilla P, Upthegrove R, Wood SJ, Lencer R, Borgwardt S, Maj C, Nothen M, Degenhardt F, Polyakova M, Mueller K, Villringer A, Danek A, Fassbender K, Fliessbach K, Jahn H, Kornhuber J, Landwehrmeyer B, Anderl S, Prudlo J, Synofzik M, Wiltfang J, Riedl L, Diehl J, Otto M, Meisenzahl E, Falkai P, Schroeter ML, Lleo A, Int FTD I, German Frontotemporal Lobar D, PRONIA C. Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning Dementia Praecox Revisited. JAMA Psychiatry. 2022; 79(9). DOI:10.1001/jamapsychiatry.2022.2075. PMID:35921104. IF:25,8 (Q1/1D). Document type: Article.
Lennol MP, Sanchez I, Cuchillo I, Camporesi E, Brinkmalm G, Alcolea D, Fortea J, Lleo A, Soria G, Aguado F, Zetterberg H, Blennow K, Saez J. Apolipoprotein E imbalance in the cerebrospinal fluid of Alzheimer’s disease patients. Alzheimers Research & Therapy. 2022; 14(1):161. DOI:10.1186/s13195-022-01108-2. PMID:36324176. IF:9 (Q1/1D). Document type: Article.
Lleo A, Illan I. Early Motor Changes in Genetic Frontotemporal Dementia. NEUROLOGY. 2022; 99(10). DOI:10.1212/WNL.0000000000200967. PMID:36219793. IF:9,9 (Q1/1D). Document type: Editorial material.
Mohaupt P, Pons ML, Vialaret J, Delaby C, Hirtz C, Lehmann S. beta-Synuclein as a candidate blood biomarker for synaptic degeneration in Alzheimer’s disease. Alzheimers Research & Therapy. 2022; 14(1):179. DOI:10.1186/s13195-022-01125-1. PMID:36451155. IF:9 (Q1/1D). Document type: Review.
Montal V, Diez I, Kim CM, Orwig W, Bueicheku E, Gutierrez R, Bejanin A, Pegueroles J, Dols O, Vannini P, El G, Johnson KA, Sperling RA, Fortea J, Sepulcre J. Network Tau spreading is vulnerable to the expression gradients of APOE and glutamatergic-related genes. Science Translational Medicin 2022; 14(655):eabn7273. DOI:10.1126/scitranslmed.abn7273. PMID:35895837. IF:17,1 (Q1/1D). Document type: Article.
Moreau M, Carmona M, Altuna M, Dalzon L, Barroeta I, Vilaire M, Durand S, Fortea J, Rebillat AS, Janel N. DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients. 2022; 10(6):1380. DOI:10.3390/biomedicines10061380. PMID:35740400. IF:4,7 (Q1/3D). Document type: Article.
Orellana A, Garcia P, Valero S, Montrreal L, de Rojas I, Hernandez I, Rosende M, Vargas L, Tartari JP, Antonio E, Bojaryn U, Narvaiza L, Alarcon E, Alegret M, Alcolea D, Lleo A, Tarraga L, Pytel V, Cano A, Marquie M, Boada M, Ruiz A. Establishing In-House Cutoffs of CSF Alzheimer’s Disease Biomarkers for the AT(N) Stratification of the Alzheimer Center Barcelona Cohort. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(13):6891. DOI:10.3390/ijms23136891. PMID:35805894. IF:5,6 (Q1/3D). Document type: Article.
Padilla C, Montal V, Walpert MJ, Hong YT, Fryer TD, Coles JP, Aigbirhio FI, Hartley SL, Cohen AD, Tudorascu DL, Christian BT, Handen BL, Klunk WE, Holland AJ, Zaman SH. Cortical atrophy and amyloid and tau deposition in Down syndrome: A longitudinal study. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2022; 14(1):e12288. DOI:10.1002/dad2.12288. PMID:35386472. Document type: Article.
Perez S, Alvarez I, Rosas I, Menendez M, Blazquez M, Aguilar M, Corte D, Buongiorno M, Molina L, Aldecoa I, Marti MJ, Sanchez P, Infante J, Gonzalez I, Garcia P, Rosende M, Boada M, Ruiz A, Perinan MT, Macias D, Munoz L, Gomez P, Mir P, Clarimon J, Lleo A, Alcolea D, De la Casa B, Duarte I, Alvarez V, Pastor P. Intermediate and Expanded HTT Alleles and the Risk for alpha-Synucleinopathies. MOVEMENT DISORDERS. 2022; 37(9). DOI:10.1002/mds.29153. PMID:35852957. IF:8,6 (Q1/1D). Document type: Article.
Querol M, Sirisi S, Molina L, Molina B, Pegueroles J, Ferrer P, Nunez R, Dols O, Balasa M, Iulita MF, Blesa R, Belbin O, Clarimon J, Fortea J, Gelpi E, Sanchez R, Lleo A. Neuropathology of a patient with Alzheimer disease treated with low doses of verubecestat. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 2022; 48(3):e12781. DOI:10.1111/nan.12781. PMID:34825396. IF:5 (Q1/2D). Document type: Article.
Ramírez S, Haddad R, Radosevic M, Toledo M, Pané A, Alcolea D, Ribas V, Milà M, Pozo M, Obri A, Eyre E, Gómez AG, Chivite I, Van T, Zalachoras I, Altirriba J, Bauder C, Imbernón M, Garrabou G, Garcia C, Nogueiras R, Soto D, Gasull X, Sandi C, Brüning JC, Fortea J, Jiménez A, Fernández JC, Claret M. Hypothalamic pregnenolone mediates recognition memory in the context of metabolic disorders. Cell Metabolism. 2022; 34(2). DOI:10.1016/j.cmet.2021.12.023. PMID:35108514. IF:29 (Q1/1D). Document type: Article.
Reyes D, Dols O, Sirisi S, Cortes E, Turon J, De Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lleo A, Rojas R, Illan I. Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies. Frontiers in Neurology. 2022; 12:750543. DOI:10.3389/fneur.2021.750543. PMID:35115992. IF:3,4 (Q2/5D). Document type: Review. Document type: Article.
Rosas I, Morís G, Coto E, Blázquez M, Suárez E, García C, Martínez C, Herrera ID, Pérez S, Álvarez V, Menéndez M, Adarmes AD, Aguilar M, Alvarez I, Barrero FJ, Bergareche JA, Bonilla M, Botía JA, Boungiorno MT, Buiza D, Cámara A, Carrillo F, Cerdan D, Clarimón J, Compta Y, Diez M, Dols O, de Fabregues O, Cartagena PS, Duarte J, Duran R, Escamilla F, et al. [Kulisevsky J, Pagonabarraga J, Pascual B]. Smoking is associated with age at disease onset in Parkinson’s disease. PARKINSONISM & RELATED DISORDERS. 2022; 97. DOI:10.1016/j.parkreldis.2022.03.005. PMID:35364453. IF:4,1 (Q2/3D). Document type: Article.
Ruiz I, Horta A, Illan I, Kulisevsky J, Pagonabarraga J. Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities. Frontiers in Neurology. 2022; 13:861585. DOI:10.3389/fneur.2022.861585. PMID:35557621. IF:3,4 (Q2/5D). Document type: Review.
Salwierz P, Davenport C, Sumra V, Iulita MF, Ferretti MT, Tartaglia MC. Sex and gender differences in dementia. International Review of Neurobiology. 2022; DOI:10.1016/bs.irn.2022.07.002. PMID:36038204. Document type: Article.
Sexton C, Solis M, Aharon J, Alexopoulos P, Apostolova LG, Bayen E, Birkenhager B, Cappa S, Constantinidou F, Fortea J, Gerritsen DL, Hassanin HI, Ibanez A, Ioannidis P, Karageorgiou E, Korczyn A, Leroi I, Lichtwarck B, Logroscino G, Lynch C, Mecocci P, Molinuevo JL, Papatriantafyllou J, Papegeorgiou S, Politis A, Raman R, Ritchie K, Sanchez P, Sano M, Scarmeas N, Spiru L, Stathi A, Tsolaki M, Yener G, Zaganas I, Zygouris S, Carrillo M. Alzheimer’s disease research progress in the Mediterranean region: The Alzheimer’s Association International Conference Satellite Symposium. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12588. PMID:35184367. IF:14 (Q1/1D). Document type: Review.
Sirisi S, Querol M, Dols O, Pegueroles J, Montal V, Munoz L, Torres S, Ferrer P, Iulita MF, Sanchez E, Blesa R, Illan I, Molina L, Borrego S, Sanchez R, Clarimon J, Belbin O, Fortea J, Lleo A. Myelin loss in C9orf72 hexanucleotide expansion carriers. JOURNAL OF NEUROSCIENCE RESEARCH. 2022; 100(10). DOI:10.1002/jnr.25100. PMID:35766328. IF:4,2 (Q2/4D). Document type: Article.
Valle N, Pérez R, Chiva G, Belbin O, Serrano S, Sirisi S, González AC, Giró O, Sánchez É, Dols O, Alcolea D, Carmona M, Jimenez A, Lleó A, Fortea J, Iulita MF. Enrichment of Astrocyte-Derived Extracellular Vesicles from Human Plasma. Jove-Journal of Visualized Experiments. 2022; 2022(186):e64107. DOI:10.3791/64107. PMID:35993755. IF:1,2 (Q3/8D). Document type: Article.
Videla L, Benejam B, Pegueroles J, Carmona M, Padilla C, Fernandez S, Barroeta I, Altuna M, Valldeneu S, Garzon D, Ribas L, Montal V, Martinez JA, Aranha MR, Alcolea D, Bejanin A, Iulita MF, Ces SV, Blesa R, Lleo A, Fortea J. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome. JAMA Network Open. 2022; 5(8):e2225573. DOI:10.1001/jamanetworkopen.2022.25573. PMID:35930282. IF:13,8 (Q1/1D). Document type: Article.
Villarejo A, Garcia E, Pinol G, del Olmo A, Vinuela F, Boada M, Franco E, de la Pena AI, Riverol M, Puig A, Abizanda P, Arroyo R, Baquero M, Feria I, Balasa M, Berbel A, Rodriguez E, Vieira A, Garcia G, Rodrigo S, Lleo A, Maurino J. Awareness of Diagnosis in Persons with Early-Stage Alzheimer’s Disease: An Observational Study in Spain. Neurology and Therapy. 2022; 11(3). DOI:10.1007/s40120-022-00367-3. PMID:35648383. IF:3,7 (Q2/4D). Document type: Article.
Villarejo A, Garcia E, Pinol G, del Olmo A, Vinuela F, Boada M, Franco E, de la Pena AI, Riverol M, Puig A, Abizanda P, Arroyo R, Baquero M, Feria I, Balasa M, Berbel A, Rodriguez E, Vieira A, Garcia G, Rodrigo S, Terrancle A, Prefasi D, Lleo A, Maurino J. Quality of Life and the Experience of Living with Early-Stage Alzheimer’s Disease. JOURNAL OF ALZHEIMERS DISEASE. 2022; 90(2). DOI:10.3233/JAD-220696. PMID:36155523. IF:4 (Q2/4D). Document type: Article.
Visser PJ, Reus LM, Gobom J, Jansen I, Dicks E, Van der Lee SJ, Tsolaki M, Verhey FRJ, Popp J, Martinez P, Vandenberghe R, Lleo A, Molinuevo JL, Engelborghs S, Freund Y, Froelich L, Sleegers K, Dobricic V, Lovestone S, Streffer J, Vos SJB, Bos I, Smit AB, Blennow K, Scheltens P, Teunissen CE, Bertram L, Zetterberg H, Tijms BM, A. Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease. Molecular Neurodegeneration. 2022; 17(1):27. DOI:10.1186/s13024-022-00521-3. PMID:35346299. IF:15,1 (Q1/1D). Document type: Article.
Zaman S, Fortea J. Focal Point The crucial history of Down syndrome. LANCET NEUROLOGY. 2022; 21(3). DOI:10.1016/S1474-4422(22)00047-3. PMID:35182507. IF:48 (Q1/1D). Document type: In context.
Zhang YT, Ghose U, Buckley NJ, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleo A, Popp J, Martinez P, Legido C, Barkhof F, Zetterberg H, Visser PJ, Bertram L, Lovestone S, Nevado AJ, Shi L. Predicting AT(N) pathologies in Alzheimer’s disease from blood-based proteomic data using neural networks. Frontiers in Aging Neuroscience. 2022; 14:1040001. DOI:10.3389/fnagi.2022.1040001. PMID:36523958. IF:4,8 (Q2/3D). Document type: Article.

Publications 2021

Alcolea D, Delaby C, Munoz L, Torres S, Estelles T, Zhu N, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Pegueroles J, Hirtz C, Vialaret J, Lehmann S, Karikari TK, Ashton NJ, Blennow K, Zetterberg H, Belbin O, Blesa R, Clarimon J, Fortea J, Lleo A. Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(11). DOI:10.1136/jnnp-2021-326603. PMID:34103344. IF: 13,654
Altuna M, Gimenez S, Fortea J. Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity. Journal of Clinical Medicine. 2021; 10(13):2776. DOI:10.3390/jcm10132776. PMID:34202784. IF: 4,964
Aschenbrenner AJ, Baksh RA, Benejam B, Beresford JA, Coppus A, Fortea J, Handen BL, Hartley S, Head E, Jaeger J, Levin J, Loosli SV, Rebillat AS, Sacco S, Schmitt FA, Thurlow KE, Zaman S, Hassenstab J, Strydom A. Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2021; 13(1):e12184. DOI:10.1002/dad2.12184. PMID:33969175. FI: 16,655
Ashton NJ, Janelidze S, Al Khleifat A, Leuzy A, van der Ende EL, Karikari TK, Benedet AL, Pascoal TA, Lleo A, Parnetti L, Galimberti D, Bonanni L, Pilotto A, Padovani A, Lycke J, Novakova L, Axelsson M, Velayudhan L, Rabinovici GD, Miller B, Pariante C, Nikkheslat N, Resnick SM, Thambisetty M, Scholl M, Fernandez G, Gil FJ, de Munain AL, Al A, Rosa P, et al. A multicentre validation study of the diagnostic value of plasma neurofilament light. Nature Communications. 2021; 12(1):3400. DOI:10.1038/s41467-021-23620-z. IF: 17,694
Barranco N, Pla V, Alcolea D, Sanchez I, Fischer R, Ferrer I, Lleo A, Aguado F. Dense core vesicle markers in CSF and cortical tissues of patients with Alzheimer’s disease. Translational Neurodegeneration. 2021; 10(1):37. DOI:10.1186/s40035-021-00263-0. PMID:34565482. IF: 9,883
Bejanin A, Iulita MF, Vilaplana E, Carmona M, Benejam B, Videla L, Barroeta I, Fernandez S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, Gonzalez S, Munoz L, Padilla C, Aranha MR, Estelles T, Illan I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, et al. [Alcolea D, Clarimon J, Blesa R, Lleo A, Fortea J]. Association of Apolipoprotein E epsilon 4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome. JAMA Neurology. 2021; 78(8). DOI:10.1001/jamaneurol.2021.1893. PMID:34228042. IF: 29,907
Blauwendraat C, Iwaki H, Makarious MB, Bandres S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrom L, Toft M, van JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, et al. [Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J]. Investigation of Autosomal Genetic Sex Differences in Parkinson’s Disease. ANNALS OF NEUROLOGY. 2021; 90(1). DOI:10.1002/ana.26090. PMID:33901317. IF: 11,274
Bostrom G, Freyhult E, Virhammar J, Alcolea D, Tumani H, Otto M, Brundin RM, Kilander L, Lowenmark M, Giedraitis V, Lleo A, von C, Kultima K, Ingelsson M. Different Inflammatory Signatures in Alzheimer’s Disease and Frontotemporal Dementia Cerebrospinal Fluid. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(2). DOI:10.3233/JAD-201565. PMID:33814444. IF: 4,160
Bueicheku E, Gonzalez JM, Ortiz L, Montal V, Uquillas FD, De Marcos L, Orwig W, Kim CM, Ortiz E, Basaia S, Diez I, Sepulcre J. Divergent connectomic organization delineates genetic evolutionary traits in the human brain. Scientific Reports. 2021; 11(1):19692. DOI:10.1038/s41598-021-99082-6. PMID:34608211. IF: 4,996
Calabria M, Jefferies E, Sala I, Morenas-Rodriguez E, Illan-Gala I, Montal V, Fortea J, Lleo A, Costa A. Multilingualism in semantic dementia: language-dependent lexical retrieval from degraded conceptual representations. APHASIOLOGY. 2021; 35(2):240-266. DOI:10.1080/02687038.2019.1693025. IF: 1,902
Carmona M, Alcolea D, Barroeta I, Videla L, Munoz L, Van KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare I, Holland AJ, Nubling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleo A, Fortea J. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study. LANCET NEUROLOGY. 2021; 20(8). DOI:10.1016/S1474-4422(21)00129-0. PMID:34302785. IF: 59,935
Chen ZB, Zhang D, Reynolds RH, Gustavsson EK, Garcia S, D’Sa K, Fairbrother A, Vandrovcova J, Hardy J, Houlden H, Taliun S, Botia J, Ryten M, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, Int Parkinson’s Dis Genomics C. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. 2021; 12(1):2076. DOI:10.1038/s41467-021-22262-5. PMID:33824317. IF: 17,694
Chia R, Sabir MS, Bandres S, Saez S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding JH, Makarious MB, Diez M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George P, Londos E, Morgan K, et al. [Lleo A, Fortea J, Alcolea D, Clarimon J]. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. NATURE GENETICS. 2021; 53(3). DOI:10.1038/s41588-021-00785-3. PMID:33589841. IF: 41,307
de Asua DR, Mayer MA, Ortega MD, Borrel JM, Bermejo TD, Gonzalez D, Manso C, Moldenhauer F, Carmona M, Huls A, Sherman SL, Strydom A, de la Torre R, Dierssen M, Spanish Trisomy Res Soc COVID 21. Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome. Journal of Clinical Medicine. 2021; 10(16):3748. DOI:10.3390/jcm10163748. PMID:34442043. IF: 4,964
De Kort AM, Kuiperij HB, Alcolea D, Kersten I, Versleijen A, Greenberg SM, Stoops E, Schreuder FHBM, Klijn CJM, Lleo A, Claassen J, Verbeek MM. Cerebrospinal fluid levels of the neurotrophic factor neuroleukin are increased in early Alzheimer’s disease, but not in cerebral amyloid angiopathy. Alzheimers Research & Therapy. 2021; 13(1):160. DOI:10.1186/s13195-021-00899-0. PMID:34560885. IF: 8,823
de Rojas I, Moreno S, Tesi N, Grenier B, Andrade V, Pedersen NL, Stringa N, Zettergren A, Hernandez I, Montrreal L, Antunez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, Gonzalez A, Calero M, Franco E, Macias J, Blesa R, Cervera L, Menendez M, Frank A, Royo JL, Moreno F, Vilas RH, et al. [Alcolea D, Fortea J, Lleo A, Clarimon J]. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications. 2021; 12(1):3417. DOI:10.1038/s41467-021-22491-8. PMID:34099642. IF: 17,694
Dekker AD, Ulgiati AM, Groen H, Boxelaar VA, Sacco S, Falquero S, Carfi A, di A, Benejam B, Valldeneu S, Fopma R, Oosterik M, Hermelink M, Beugelsdijk G, Schippers M, Henstra H, Scholten M, Willink J, de Ruiter L, Willems L, Loonstra A, Coppus A, Tollenaere M, Fortea J, Onder G, Rebillat AS, Van D, De Deyn PP. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(4). DOI:10.3233/JAD-201427. PMID:33967040. IF: 4,160
Delaby C, Julian A, Page G, Ragot S, Lehmann S, Paccalin M. NFL strongly correlates with TNF-R1 in the plasma of AD patients, but not with cognitive decline. Scientific Reports. 2021;11(1):10283. DOI:10.1038/s41598-021-89749-5. PMID: 33986423. IF: 4,996
Delaby C, Vialaret J, Hirtz C, Lefebvre T, Herkert M, Puy H, Lasocki S, Lehmann S; HEPCIDANE study group. Analytical comparison of ELISA and mass spectrometry for quantification of serum hepcidin in critically ill patients. Bioanalysis. 2021;13(13):1029-1035. DOI:10.4155/bio-2021-0069. PMID: 34100293. IF: 2,695
Dewan R, Chia R, Ding JH, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibanez K, Shankaracharya F, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, et al. [Clarimón J, Dols O, Illan I, Lleó A]. Article Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. NEURON. 2021; 109(3). DOI:10.1016/j.neuron.2020.11.005. PMID:33242422. IF: 18,688
Dierssen M, Herault Y, Helguera P, de Lagran MM, Vazquez A, Christian B, Carmona M, Wiseman F, Mobley W, Fisher E, Brault V, Esbensen A, Jacola LM, Potier MC, Hamlett ED, Abbeduto L, Soriano LD, Busciglio J, Iulita MF, Crispino J, Malinge S, Barone E, Perluigi M, Costanzo F, Delabar JM, Bartesaghi R, Dekker AD, De Deyn P, Ormaechea JF, et al. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology. 2021; 12(4). DOI:10.1159/000514437. PMID:34421499. IF: 1,494
Dubois B, Villain N, Frisoni GB, Rabinovici GD, Sabbagh M, Cappa S, Bejanin A, Bombois S, Epelbaum S, Teichmann M, Habert MO, Nordberg A, Blennow K, Galasko D, Stern Y, Rowe CC, Salloway S, Schneider LS, Cummings JL, Feldman HH. Clinical diagnosis of Alzheimer’s disease: recommendations of the International Working Group. LANCET NEUROLOGY. 2021; 20(6). DOI:10.1016/S1474-4422(21)00066-1. PMID:33933186. IF: 59,935
Falgas N, Illan I, Allen IE, Mumford P, Essanaa YM, Le MM, You M, Grinberg LT, Rosen HJ, Neylan TC, Kramer JH, Walsh CM. Specific cortical and subcortical grey matter regions are associated with insomnia severity. PLoS One. 2021; 16(5):e0252076. DOI:10.1371/journal.pone.0252076. PMID:34038462. IF: 3,752
Ferrer P, Beyer K. Alternative platelet activation pathways and their role in neurodegenerative diseases. NEUROBIOLOGY OF DISEASE. 2021; 159:105512. DOI:10.1016/j.nbd.2021.105512. PMID:34537329. IF: 7,046
Flores L, Iulita MF, Orciani C, Tanna N, Yang JY, Bennett DA, Cuello AC. Cognitive and brain cytokine profile of non-demented individuals with cerebral amyloid-beta deposition. Journal of Neuroinflammation. 2021; 18(1):147. DOI:10.1186/s12974-021-02169-0. PMID:34218796. IF: 9,587
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona M. Alzheimer’s disease associated with Down syndrome: a genetic form of dementia. LANCET NEUROLOGY. 2021; 20(11). DOI:10.1016/S1474-4422(21)00245-3. PMID:34687637. IF: 59,935
Frederiksen KS, Nielsen TR, Appollonio I, Andersen BB, Riverol M, Boada M, Ceccaldi M, Dubois B, Engelborghs S, Frölich L, Hausner L, Gabelle A, Gabryelewicz T, Grimmer T, Hanseeuw B, Hort J, Hugon J, Jelic V, Koivisto A, Kramberger MG, Lebouvier T, Lleó A, de Mendonça A, Nobili F, Ousset PJ, Perneczky R, Olde Rikkert M, Robinson D, et al. Biomarker counseling, disclosure of diagnosis and follow-up in patients with mild cognitive impairment: A European Alzheimer’s disease consortium survey. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021;36(2):324-333. DOI:10.1002/gps.5427. PMID: 32896040. IF: 3,850
Gimenez S, Altuna M, Blessing E, Osorio RM, Fortea J. Sleep Disorders in Adults with Down Syndrome. Journal of Clinical Medicine. 2021; 10(14):3012. DOI:10.3390/jcm10143012. PMID:34300177. IF: 4,964
Hong SJ, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Tanzi RE, ten M, Wittig M, et al. TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels. Alzheimers & Dementia. 2021; 17(10). DOI:10.1002/alz.12330. PMID:33991015. IF: 16,655
Horta A, Pagonabarraga J, Martinez S, Busteed L, Pascual B, Illan I, Marin J, Aracil I, Perez J, Sampedro F, Bejr H, Kulisevsky J. Cognitive and behavioral profile of progressive supranuclear palsy and its phenotypes. JOURNAL OF NEUROLOGY. 2021; 268(9). DOI:10.1007/s00415-021-10511-y. PMID:33704556. IF: 6,682
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, et al. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3). DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF: 6,682
Illan I, Casaletto KB, Borrego S, Arenaza EM, Wolf A, Cobigo Y, Goh SYM, Staffaroni AM, Alcolea D, Fortea J, Blesa R, Clarimon J, Iulita MF, Brugulat A, Llado A, Grinberg LT, Possin K, Rankin KP, Kramer JH, Rabinovici GD, Boxer A, Seeley WW, Sturm VE, Gorno ML, Miller BL, Sanchez R, Perry DC, Lleo A, Rosen HJ. Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve. Alzheimers & Dementia. 2021; 17(8). DOI:10.1002/alz.12299. PMID:33590953. IF: 16,655
Illan I, Falgas N, Friedberg A, Castro S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos M, Borrego S, Cobigo Y, Dols O, Llado A, Sanchez R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleo A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Tempini MLG, Miller BL, Seeley WW, Rosen HJ, Perry DC. Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration. JAMA Network Open. 2021; 4(3):e211290. DOI:10.1001/jamanetworkopen.2021.1290. PMID:33704477. IF: 13,353
Illan I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer JH, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno ML, Seeley WW, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC. Plasma Tau and Neurofilament Light in Frontotemporal Lobar Degeneration and Alzheimer Disease. NEUROLOGY. 2021; 96(5). DOI:10.1212/WNL.0000000000011226. PMID:33199433. IF: 11,800
Illouz T, Biragyn A, Frenkel M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu EE, Herault Y, Potier MC, Botte A, Roper R, Sredni B, Sarid R, London J, Mobley W, Strydom A, Okun E. Specific Susceptibility to COVID-19 in Adults with Down Syndrome (Mar, 10.1007/s12017-021-08651-5, 2021). NEUROMOLECULAR MEDICINE. 2021; 23(4). DOI:10.1007/s12017-021-08657-z. PMID:33948879. IF:3,843 (Q2/D5).
Illouz T, Biragyn A, Iulita MF, Flores L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botte A, Roper R, Sredni B, London J, Mobley W, Strydom A, Okun E, COVID T21RS. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 2021; 12:621440. DOI:10.3389/fimmu.2021.621440. PMID:34248930. IF: 8,786
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botia J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, United B, Int Parkinsons Dis G. Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology. 2021; 78(4). DOI:10.1001/jamaneurol.2020.5257. PMID:33523105. IF: 29,907
Kim CM, Montal V, Diez I, Orwig W, Sepulcre J, Alzheimer’s N. Network interdigitations of Tau and amyloid-beta deposits define cognitive levels in aging. HUMAN BRAIN MAPPING. 2021; 42(10). DOI:10.1002/hbm.25350. PMID:33955621. IF: 5,399
Lage C, Lopez S, Bejanin A, Kazimierczak M, Aracil I, Calvo A, Pozueta A, Garcia M, Fernandez A, Bravo M, Jimenez J, Banzo I, Irure J, Pegueroles J, Illan I, Fortea J, Rodriguez E, Lleo A, Garcia CE, Sanchez P. Distinctive Oculomotor Behaviors in Alzheimer’s Disease and Frontotemporal Dementia. Frontiers in Aging Neuroscience. 2021; 12:603790. DOI:10.3389/fnagi.2020.603790. PMID:33613262. IF: 5,702
Lawingco T, Chaudhury S, Brookes KJ, Guetta T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, A beta-, and tau-related pathways determine polygenic risk for Alzheimer’s disease. NEUROBIOLOGY OF AGING. 2021; 101. DOI:10.1016/j.neurobiolaging.2020.11.009. PMID:33303219. IF: 5,133
Ledreux A, Thomas S, Hamlett ED, Trautman C, Gilmore A, Hager ER, Paredes DA, Margittai M, Fortea J, Granholm AC. Small Neuron-Derived Extracellular Vesicles from Individuals with Down Syndrome Propagate Tau Pathology in the Wildtype Mouse Brain. Journal of Clinical Medicine. 2021; 10(17):3931. DOI:10.3390/jcm10173931. PMID:34501378. IF: 4,964
Lleo A, Carmona M, Videla L, Fernandez S, Benejam B, Pegueroles J, Barroeta I, Altuna M, Valldeneu S, Xiao MF, Xu DS, Nunez R, Querol M, Sirisi S, Bejanin A, Iulita MF, Clarimon J, Blesa R, Worley P, Alcolea D, Fortea J, Belbin O. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome. Alzheimers Research & Therapy. 2021; 13(1):119. DOI:10.1186/s13195-021-00861-0. PMID:34183050. IF: 8,823
Lleo A, Zetterberg H, Pegueroles J, Karikari TK, Carmona M, Ashton NJ, Montal V, Barroeta I, Lantero J, Videla L, Altuna M, Benejam B, Fernandez S, Valldeneu S, Garzon D, Bejanin A, Iulita MF, Camacho V, Medrano S, Belbin O, Clarimon J, Lehmann S, Alcolea D, Blesa R, Blennow K, Fortea J. Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome. Nature Communications. 2021; 12(1):4304. DOI:10.1038/s41467-021-24319-x. PMID:34262030. IF: 17,694
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Montal V, Barroeta I, Bejanin A, Pegueroles J, Carmona M, Altuna M, Benejam B, Videla L, Fernandez S, Padilla C, Aranha MR, Iulita MF, Vidal D, Alcolea D, Blesa R, Lleo A, Fortea J. Metabolite Signature of Alzheimer’s Disease in Adults with Down Syndrome. ANNALS OF NEUROLOGY. 2021; 90(3). DOI:10.1002/ana.26178. PMID:34309066. IF: 11,274
Montal V, Vilaplana E, Pegueroles J, Bejanin A, Alcolea D, Carmona M, Clarimon J, Levin J, Cruchaga C, Graff NR, Noble JM, Lee JH, Allegri R, Karch CM, Laske C, Schofield PR, Salloway S, Ances B, Benzinger T, McDale E, Bateman R, Blesa R, Sanchez R, Lleo A, Fortea J, D. Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12224. PMID:33196147. IF: 16,655
Moreno S, Fernandez MV, de Rojas I, Garcia P, Hernandez I, Farias F, Budde JP, Quintela I, Madrid L, Gonzalez A, Montrreal L, Alarcon E, Alegret M, Maronas O, Pineda JA, Macias J, Marquie M, Valero S, Benaque A, Clarimon J, Bullido MJ, Garcia G, Pastor P, Sanchez P, Alvarez V, Pinol G, Garcia JM, Royo JL, Franco E, Mir P, et al. [Blesa R, Fortea J, Lleó A]. Long runs of homozygosity are associated with Alzheimer’s disease. Translational Psychiatry. 2021; 11(1):142. DOI:10.1038/s41398-020-01145-1. PMID:33627629. IF: 7,989
Pagonabarraga J, Horta A, Busteed L, Bejr H, Illan I, Aracil I, Marin J, Pascual B, Perez J, Campolongo A, Izquierdo C, Martinez S, Sampedro F, Kulisevsky J. Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy. PARKINSONISM & RELATED DISORDERS. 2021; 85. DOI:10.1016/j.parkreldis.2021.03.002. PMID:33744691. IF: 4,402
Pegueroles J, Montal V, Bejanin A, Vilaplana E, Aranha M, Santos MA, Alcolea D, Carrio I, Camacho V, Blesa R, Lleo A, Fortea J. AMYQ: An index to standardize quantitative amyloid load across PET tracers. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12317. PMID:33797846. IF: 16,655
Pentz R, Iulita MF, Ducatenzeiler A, Videla L, Benejam B, Iragui MC, Blesa R, Lleo A, Fortea J, Cuello AC. Nerve growth factor (NGF) pathway biomarkers in Down syndrome prior to and after the onset of clinical Alzheimer’s disease: A paired CSF and plasma study. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12229. PMID:33226181. IF: 16,655
Pentz R, Iulita MF, Mikutra M, Ducatenzeiler A, Bennett DA, Cuello AC. A new role for matrix metalloproteinase-3 in the NGF metabolic pathway: Proteolysis of mature NGF and sex-specific differences in the continuum of Alzheimer’s pathology. NEUROBIOLOGY OF DISEASE. 2021; 148:105150. DOI:10.1016/j.nbd.2020.105150. PMID:33130223. IF: 7,046
Pentz R, Iulita MF. The NGF Metabolic Pathway: New Opportunities for Biomarker Research and Drug Target Discovery NGF Pathway Biomarkers and Drug Targets. Advances in Experimental Medicine and Biology. 2021; 1331. DOI:10.1007/978-3-030-74046-7_4. PMID:34453291. IF: 3,650
Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas HD, Zaman S, Wang MC, Tycko B, Lee JH, Handen B, Hartley S, Fortea J, O’Bryant S, Alzheimers C. Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer’s Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(2). DOI:10.3233/JAD-201167. PMID:33337378. IF: 4,160
Peyron PA, Colomb S, Becas D, Adriansen A, Gauchotte G, Tiers L, Marin G, Lehmann S, Baccino E, Delaby C, Hirtz C. Cytokines as new biomarkers of skin wound vitality. INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(6):2537-2545. DOI:10.1007/s00414-021-02659-z. PMID: 34313846. IF: 2,791
Peyron PA, Hirtz C, Baccino E, Ginestet N, Tiers L, Martinez AY, Lehmann S, Delaby C. Tau protein in cerebrospinal fluid: a novel biomarker of the time of death? INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(5):2081-2089. DOI:10.1007/s00414-021-02558-3. PMID: 33740116. IF: 2,791
Reus LM, Pasaniuc B, Posthuma D, Boltz T, Pijnenburg Y, Ophoff RA, Lleó A, Blesa R, Ophoff RA. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. BIOLOGICAL PSYCHIATRY. 2021; 89(8). DOI:10.1016/j.biopsych.2020.12.023. PMID:33637304. IF: 12,810
Rodriguez E, Montal V, Sepulcre J, Lois C, Hanseeuw B, Vilaplana E, Schultz AP, Properzi MJ, Scott MR, Amariglio R, Papp KV, Marshall GA, Fortea J, Johnson KA, Sperling RA, Vannini P. Association of cortical microstructure with amyloid-beta and tau: impact on cognitive decline, neurodegeneration, and clinical progression in older adults. MOLECULAR PSYCHIATRY. 2021; 26(12). DOI:10.1038/s41380-021-01290-z. PMID:34588623. IF: 13,437
Rosas I, Martínez C, Coto E, Clarimón J, Lleó A, Illán-Gala I, Dols-Icardo O, Borroni B, Almeida MR, van der Zee J, Van Broeckhoven C; EU EOD Consortium, Bruni AC, Anfossi M, Bernardi L, Maletta R, Serpente M, Galimberti D, Scarpini E, Rossi G, Caroppo P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Antonell A, et al. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of Aging. 2021;99:99.e15-99.e22. DOI:10.1016/j.neurobiolaging. 2020.08.018. PMID: 32972771. IF: 5,133
Rujeedawa T, Félez EC, Clare ICH, Fortea J, Strydom A, Rebillat A-S, Coppus A, Levin J, Zaman SH. The clinical and neuropathological features of sporadic (Late-onset) and genetic forms of alzheimer’s disease. Journal of Clinical Medicine. 2021; 10(19):4582. DOI:10.3390/jcm10194582. PMID:34640600. IF: 4,964
Shi L, Buckley NJJ, Bos I, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleo A, Popp J, Martinez P, Legido C, Barkhof F, Zetterberg H, Visser PJ, Bertram L, Lovestone S, Nevado AJ. Plasma Proteomic Biomarkers Relating to Alzheimer’s Disease: A Meta-Analysis Based on Our Own Studies. Frontiers in Aging Neuroscience. 2021; 13:712545. DOI:10.3389/fnagi.2021.712545. PMID:34366831. IF: 5,702
Shi L, Winchester LM, Westwood S, Baird AL, Anand SN, Buckley NJ, Hye A, Ashton NJ, Bos I, Vos SJB, ten M, Scheltens P, Teunissen CE, Vandenberghe R, Gabel S, Meersmans K, Engelborghs S, De Roeck EE, Sleegers K, Frisoni GB, Blin O, Richardson JC, Bordet R, Molinuevo JL, Rami L, Wallin A, Kettunen P, Tsolaki M, Verhey F, Lleo A, Sala I, et al. Replication study of plasma proteins relating to Alzheimer’s pathology. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12322. PMID:33792144. IF: 16,655
Solana E, Martinez E, Montal V, Vilaplana E, Lopez E, Radua J, Sola N, Montejo C, Blanco Y, Pulido I, Sepulveda M, Andorra M, Berenguer J, Villoslada P, Martinez EH, Prados F, Saiz A, Fortea J, Llufriu S. Regional grey matter microstructural changes and volume loss according to disease duration in multiple sclerosis patients. Scientific Reports. 2021; 11(1):16805. DOI:10.1038/s41598-021-96132-x. PMID:34413373. IF: 4,996
Stantonyonge N, Martinez S, Sampedro F, Sanchez MB, Chico A. Defective involuntary attention to novelty in type 1 diabetes and impaired awareness of hypoglycaemia. DIABETES RESEARCH AND CLINICAL PRACTICE. 2021; 177:108898. DOI:10.1016/j.diabres.2021.108898. PMID:34098058. IF: 8,180
Storm CS, Kia DA, Almramhi MM, Bandres S, Finan C, Hingorani AD, Wood NW, Clarimón J, Dols O, Kulisevsky J, Marín J, Pagonabarraga J, Lynch TL. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome. Nature Communications. 2021; 12(1):7342. DOI:10.1038/s41467-021-26280-1. PMID:34930919. IF: 17,694
Tort A, Valech N, Laine M, Olives J, Leon M, Ecay M, Estanga A, Martinez P, Fortea J, Molinuevo JL, Sanchez R, Rodriguez A, Rami L. Accelerated long-term forgetting in individuals with subjective cognitive decline and amyloid-beta positivity. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021; 36(7). DOI:10.1002/gps.5539. PMID:33792089. IF: 3,850
Tort-Merino A, Laine M, Valech N, Olives J, León M, Ecay-Torres M, Estanga A, Martínez-Lage P, Fortea J, Sánchez-Valle R, Rami L, Rodríguez-Fornells A. Accelerated long-term forgetting over three months in asymptomatic APOE ɛ4 carriers. Annals of Clinical and Translational Neurology. 2021;8(2):477-484. DOI:10.1002/acn3.51245. PMID: 33369208. IF: 5,430
van der Ende EL, Morenas E, McMillan C, Grossman M, Irwin D, Sanchez R, Graff C, Vandenberghe R, Pijnenburg Y, Laforce R, Le I, Lleo A, Haass C, Suarez M, van JC, Seelaar H. CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia. NEUROBIOLOGY OF AGING. 2021; 103. DOI:10.1016/j.neurobiolaging.2021.02.024. PMID:33896652. IF: 5,133
van LJCV, Ghafoorian M, van E, Claassen J, Arighi A, Bozzali M, Cannas J, Cavedo E, Eusebi P, Farotti L, Fenoglio C, Fortea J, Frisoni GB, Galimberti D, Greco V, Herukka SK, Liu YW, Lleo A, de Mendonca A, Nobili FM, Parnetti L, Picco A, Pikkarainen M, Salvadori N, Scarpini E, Soininen H, Tarducci R, Urbani A, Vilaplana E, Meulenbroek O, Platel B, Verbeek MM, Kuiperij HB. White Matter Hyperintensities Are No Major Confounder for Alzheimer’s Disease Cerebrospinal Fluid Biomarkers. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(1). DOI:10.3233/JAD-200496. PMID:33252070. IF: 2,632
Ximelis T, Marin A, Espinosa JC, Erana H, Charco JM, Hernandez I, Riveira C, Alcolea D, Gonzalez E, Aldecoa I, Molina L, Parchi P, Rossi M, Castilla J, Ruiz R, Gelpi E, Torres JM, Sanchez R. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. Alzheimers Research & Therapy. 2021; 13(1):176. DOI:10.1186/s13195-021-00912-6. PMID:34663460. IF: 8,823
Xu J, Green R, Kim M, Lord J, Ebshiana A, Westwood S, Baird AL, Nevado AJ, Shi L, Hye A, Snowden SG, Bos I, Vos SJB, Vandenberghe R, Teunissen CE, Kate MT, Scheltens P, Gabel S, Meersmans K, Blin O, Richardson J, De Roeck EE, Engelborghs S, Sleegers K, Bordet R, Rami L, Kettunen P, Tsolaki M, Verhey FRJ, Alcolea D, Lleo A, Peyratout G, et al. Sex-Specific Metabolic Pathways Were Associated with Alzheimer’s Disease (AD) Endophenotypes in the European Medical Information Framework for AD Multimodal Biomarker Discovery Cohort. Biomedicines. 2021; 9(11):1610. DOI:10.3390/biomedicines9111610. PMID:34829839. IF: 4,757
Younes K, Rojas JC, Wolf A, Sheng GM, Paoletti M, Toller G, Caverzasi E, Mandelli ML, Illan I, Kramer JH, Cobigo Y, Miller BL, Rosen HJ, Geschwind MD. Selective vulnerability to atrophy in sporadic Creutzfeldt-Jakob disease. Annals of Clinical and Translational Neurology. 2021; 8(6). DOI:10.1002/acn3.51290. PMID:33949799. IF: 5,430
Zhu N, Santos M, Illan I, Montal V, Estelles T, Barroeta I, Altuna M, Arranz J, Munoz L, Belbin O, Sala I, Sanchez MB, Subirana A, Videla L, Pegueroles J, Blesa R, Clarimon J, Carmona M, Fortea J, Lleo A, Alcolea D. Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia. Translational Neurodegeneration. 2021; 10(1):50. DOI:10.1186/s40035-021-00275-w. PMID:34893073. IF: 9,883

For more information about our research lines, visit the website

https://santpaumemoryunit.com

Introduction

Main lines of research

Biomarkers in Alzheimer disease and other neurodegenerative dementias:
- CSF biomarkers in Alzheimer disease, dementia with Lewy bodies and frontotemporal dementia.
- Amyloid imaging in neurodegenerative dementias.
- Novel MRI markers in preclinical Alzheimer disease.
Biomarkers of Alzheimer disease in Down syndrome.
Molecular basis of neurodegenerative diseases.

Challenges

Maintain and increase scientific production and funding in the next 5 years.
Develop a training plan for researchers entering the group while maintaining its translational nature.
Establish new cooperation agreements to increase number of applications for European and international projects.
Establish links with technological innovation groups and companies to foster patent applications and contracts.

Scientific Report of the Group: 2017 Scientific Report – Genetics in Neurodegenerative Diseases

Team

Group coordination

FORTEA ORMAECHEA, JUAN FGS
jfortea@santpau.cat

Members

Scientific output

Publications 2022

(JIF 2022)

Ali M, Sung YJ, Wang F, Fernández MV, Morris JC, Fagan AM, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleó A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez M, Morenas E, Kleinberger G, Haass C, Ewers M, Levin J, Farlow MR, Perrin RJ, Cruchaga C. Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk. PLoS One. 2022; 17:e0267298. DOI:10.1371/journal.pone.0267298. PMID:35617280. IF:3,7 (Q2/4D). Document type: Article.
Altuna M, Larumbe R, Zelaya MV, Moreno S, Garcia V, Mendioroz M, Ramos MA, Erro ME. Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization. JOURNAL OF NEUROLOGY. 2022; 269(9). DOI:10.1007/s00415-022-11125-8. PMID:35438347. IF:6,6 (Q1/2D). Document type: Article.
Altuna M, Olmedo G, Carmona M, Fortea J. Mechanisms Involved in Epileptogenesis in Alzheimer’s Disease and Their Therapeutic Implications. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(8):4307. DOI:10.3390/ijms23084307. PMID:35457126. IF:5,6 (Q1/3D). Document type: Review.
Altuna M, Ruiz I, Zelaya MV, Mendioroz M. Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review. Medicina-Lithuania. 2022; 58(4):473. DOI:10.3390/medicina58040473. PMID:35454316. IF:2,6 (Q3/6D). Document type: Review.
Aranha MR, Fortea J, Carmona M. Cerebral Amyloid Angiopathy-Related Inflammation in Down Syndrome-Related Alzheimer Disease. NEUROLOGY. 2022; 98(24). DOI:10.1212/WNL.0000000000200704. PMID:35470138. IF:9,9 (Q1/1D). Document type: Editorial material.
Baque L, Machuca MJ, Santos MA. Preliminary study of the temporal variables of continuous speech in patients with neurodegenerative syndromes of the frontotemporal lobar degeneration spectrum. REVISTA DE NEUROLOGIA. 2022; 74(2). DOI:10.33588/rn.7402.2021197. PMID:35014018. IF:1,2 (Q4/10D). Document type: Article.
Baumer NT, Becker ML, Capone GT, Egan K, Fortea J, Handen BL, Head E, Hendrix JE, Litovsky RY, Strydom A, Tapia IE, Rafii MS. Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group. Journal of Neurodevelopmental Disorders. 2022; 14(1):22. DOI:10.1186/s11689-022-09435-z. PMID:35321660. IF:4,9 (Q1/3D). Document type: Review.
Bellenguez C, Kucukali F, Jansen IE, Kleineidam L, Moreno S, Amin N, Naj AC, Campos R, Grenier B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, De Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia P, Abdelnour C, Alarcon E, Alcolea D, Alegret M, Alvarez I, Alvarez V, et al. [Alcolea D, Fortea J, Lleo A]. New insights into the genetic etiology of Alzheimer’s disease and related dementias. NATURE GENETICS. 2022; 54(4). DOI:10.1038/s41588-022-01024-z. PMID:35379992. IF:30,8 (Q1/1D). Document type: Article.
Benejam B, Aranha MR, Videla L, Padilla C, Valldeneu S, Fernandez S, Altuna M, Carmona M, Barroeta I, Iulita MF, Montal V, Pegueroles J, Bejanin A, Gimenez S, Gonzalez S, Videla S, Bartres D, Alcolea D, Blesa R, Lleo A, Fortea J. Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease. Alzheimers Research & Therapy. 2022; 14(1):123. DOI:10.1186/s13195-022-01064-x. PMID:36057615. IF:9 (Q1/1D). Document type: Article.
Borras C, Mercer A, Sirisi S, Alcolea D, Escola JC, Blanco F, Tondo M. HDL-like-Mediated Cell Cholesterol Trafficking in the Central Nervous System and Alzheimer’s Disease Pathogenesis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(16):9356. DOI:10.3390/ijms23169356. PMID:36012637. IF:5,6 (Q1/3D). Document type: Review.
Budin I, Mowinckel AM, Friedman BB, Ebmeier KP, Drevon CA, Carver RB, Zsoldos E, Fredheim N, Sorensen O, Baare WFC, Madsen KS, Fjell AM, Kievit RA, Ghisletta P, Bartres D, Nawijn L, Sole C, Walhovd KB, Duzel S, Zasyekina L, Iulita MF, Ferretti MT. Public perceptions of brain health: an international, online cross-sectional survey. BMJ Open. 2022; 12(4):e057999. DOI:10.1136/bmjopen-2021-057999. PMID:35437254. IF:2,9 (Q2/5D). Document type: Article.
Capítulo 18: La enfermedad de Alzheimer Asociada al síndrome de Down. Autores: María Carmona Iragui y Juan Fortea. Libro: La vida adulta en el síndrome de Down-Editorial: Fundación Iberoamericana Down 21. Coordinador: Jesús Florez. ISBN: 978-84-09-36885-3. Document type: Book chapter.
del Campo M, Peeters CFW, Johnson ECB, Vermunt L, Hok YS, van M, Chen A, Irwin DJ, Hu WT, Lah JJ, Seyfried NT, Dammer EB, Herradon G, Meeter LH, van J, Alcolea D, Lleó A, Levey AI, Lemstra AW, Pijnenburg YAL, Visser PJ, Tijms BM, van der Flier WM, Teunissen CE. CSF proteome profiling across the Alzheimer’s disease spectrum reflects the multifactorial nature of the disease and identifies specific biomarker panels. Nature Aging. 2022; 2(11). DOI:10.1038/s43587-022-00300-1. Document type: Article.
del Campo M, Zetterberg H, Gandy S, Onyike CU, Oliveira F, Udeh C, Lleo A, Teunissen CE, Pijnenburg Y. New developments of biofluid-based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia. Alzheimers & Dementia. 2022; 18(11):12643. DOI:10.1002/alz.12643. PMID:35235699. IF:14 (Q1/1D). Document type: Review.
Delaby C, Alcolea D, Hirtz C, Vialaret J, Kindermans J, Morichon L, Fortea J, Belbin O, Gabelle A, Blennow K, Zetterberg H, Lleo A, Lehmann S. Blood amyloid and tau biomarkers as predictors of cerebrospinal fluid profiles. JOURNAL OF NEURAL TRANSMISSION. 2022; 129(2). DOI:10.1007/s00702-022-02474-9. PMID:35169889. IF:3,3 (Q2/5D). Document type: Article.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments contribution in clinic: state of the art. Frontiers in Aging Neuroscience. 2022; 14:1034684. DOI:10.3389/fnagi.2022.1034684. PMID:36389064. IF:4,8 (Q2/3D). Document type: Article.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments: a key new biomarker for clinicians Part 1: Importance of neurofilaments in the management of neurodegenerative diseases. ANNALES DE BIOLOGIE CLINIQUE. 2022; 80(5). DOI:10.1684/abc.2022.1757. PMID:36453742. IF:0,5 (Q4/10D). Document type: Review.
Delaby C, Bousiges O, Bouvier D, Fillee C, Fourier A, Mondesert E, Nezry N, Omar S, Quadrio I, Rucheton B, Schraen S, van V, Vicca S, Lehmann S, Bedel A. Neurofilaments: a key new biomarker for clinicians Part 2: Neurofilaments, an asset beyond neurodegenerative diseases. ANNALES DE BIOLOGIE CLINIQUE. 2022; 80(5). DOI:10.1684/abc.2022.1758. PMID:36453743. IF:0,5 (Q4/10D). Document type: Review.
Delaby C, Estelles T, Zhu NU, Arranz J, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Tondo M, Blanco F, Lehmann S, Belbin O, Blesa R, Fortea J, Lleo A, Alcolea D. The A beta 1-42/A beta 1-40 ratio in CSF is more strongly associated to tau markers and clinical progression than A beta 1-42 alone. Alzheimers Research & Therapy. 2022; 14(1):20. DOI:10.1186/s13195-022-00967-z. PMID:35105351. IF:9 (Q1/1D). Document type: Article.
Delaby C, Teunissen CE, Blennow K, Alcolea D, Arisi I, Amar EB, Beaume A, Bedel A, Bellomo G, Bigot E, Bjerke M, Blanc MC, Boada M, Bousiges O, Chapman MD, DeMarco ML, D’Onofrio M, Dumurgier J, Dufour D, Engelborghs S, Esselmann H, Fogli A, Gabelle A, Galloni E, Gondolf C, Grandhomme F, Grau O, Hart M, Ikeuchi T, Jeromin A, Kasuga K, Keshavan A, et al. [Lleo A]. Clinical reporting following the quantification of cerebrospinal fluid biomarkers in Alzheimer’s disease: An international overview. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12545. PMID:34936194. IF:14 (Q1/1D). Document type: Article.
Ferrer R, Zhu N, Arranz J, Porcel I, El Bounasri S, Sanchez O, Torres S, Julve J, Lleo A, Blanco F, Alcolea D, Tondo M. Importance of cerebrospinal fluid storage conditions for the Alzheimer’s disease diagnostics on an automated platform. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2022; 60(7). DOI:10.1515/cclm-2022-0134. PMID:35405043. IF:6,8 (Q1/2D). Document type: Article.
Friedberg A, Pasquini L, Diggs RT, Glaubitz EA, Lopez L, Brown JA, Rankin KP, Allen IE, La Joie R, Iaccarino L, Mundada NS, Illán I, Bonham LW, Yokoyama JS, Miller ZA, Rabinovici GD, Kramer JH, Rosen HJ, Tempini MLG, Seeley WW, Miller BL. Emergence of visual artistic creativity in frontotemporal dementia. Alzheimers & Dementia. 2022; 18. DOI:10.1002/alz.065202. PMID:36537928. IF:14 (Q1/1D). Document type: Review.
Garcia C, Calabria M, Grunden N, Pons C, Arroyo JA, Gomez B, Lleo A, Alcolea D, Belvis R, Morollon N, Mur I, Pomar V, Domingo P. Neuropsychological deficits in patients with cognitive complaints after COVID-19. Brain and Behavior. 2022; 12(3):e2508. DOI:10.1002/brb3.2508. PMID:35137561. IF:3,1 (Q2/3D). Document type: Article.
Gimenez S, Farre A, Morente F, Videla L, Gutierrez M, Clos S, Fernandez A, Blanco M, Altuna M, Pegueroles J, Asensio A, Benejam B, Batista M, Barroeta I, Fortuna A, Fortea J, Mayos M. Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer’s Disease. Frontiers in Neuroscience. 2022; 16:838412. DOI:10.3389/fnins.2022.838412. PMID:35431793. IF:4,3 (Q2/4D). Document type: Article.
Gobom J, Parnetti L, Rosa P, Vyhnalek M, Gauthier S, Cataldi S, Lerch O, Laczo J, Cechova K, Clarin M, Benet AI, Pascoal TA, Rahmouni N, Vandijck M, Huyck E, Le N, Stevenson J, Chamoun M, Alcolea D, Lleo A, Andreasson U, Verbeek MM, Bellomo G, Rinaldi R, Ashton N, Zetterberg H, Sheardova K, Hort J, Blennow K. Validation of the LUMIPULSE automated immunoassay for the measurement of core AD biomarkers in cerebrospinal fluid. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2022; 60(2). DOI:10.1515/cclm-2021-0651. PMID:34773730. IF:6,8 (Q1/2D). Document type: Article.
Gómez de San José N, Goossens J, Al Shweiki MR, Halbgebauer S, Oeckl P, Steinacker P, Danzer KM, Graf H, Schönfeldt C, Belbin O, Lleó A, Vanmechelen E, Otto M. Glutamate receptor 4 as a fluid biomarker for the diagnosis of psychiatric disorders. JOURNAL OF PSYCHIATRIC RESEARCH. 2022; 156. DOI:10.1016/j.jpsychires.2022.10.010. PMID:36323141. IF:4,8 (Q2/4D). Document type: Article.
Gonzalez AC, Belbin O. Fluid markers of synapse degeneration in synucleinopathies. JOURNAL OF NEURAL TRANSMISSION. 2022; 129(2). DOI:10.1007/s00702-022-02467-8. PMID:35147800. IF:3,3 (Q2/5D). Document type: Review.
Gonzalez AC, Irwin DJ, Alcolea D, McMillan CT, Chen A, Wolk D, Sirisi S, Dols O, Querol M, Illan I, Santos MA, Fortea J, Lee EB, Trojanowski JQ, Grossman M, Lleo A, Belbin O. Multimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration. Molecular Neurodegeneration. 2022; 17(1):29. DOI:10.1186/s13024-022-00534-y. PMID:35395770. IF:15,1 (Q1/1D). Document type: Article.
Gutiérrez R, Diez I, Bueichekú E, Kim C-M, Orwig W, Montal V, Fuentes B, Díez E, Fernández MG, Sepulcre J. Connectomic-genetic signatures in the cerebral small vessel disease. NEUROBIOLOGY OF DISEASE. 2022; 167:105671. DOI:10.1016/j.nbd.2022.105671. PMID:35231560. IF:6,1 (Q1/2D). Document type: Article.
Hampel H, Elhage A, Shaw LM, Aisen P, Chen C, Lleo A, Iwatsubo T, Iwata A, Yamada M, Ikeuchi T, Jia JP, Wang HL, Teunissen CE, Peskind E, Blennow K, Cummings J, Vergallo A. The use of lumbar puncture and safety recommendations in Alzheimer’s disease: a plain language summary. Neurodegenerative Disease Management. 2022; 12(5). DOI:10.2217/nmt-2022-0012. PMID:35866715. Document type: Article.
Hampel H, Shaw LM, Aisen P, Chen C, Lleo A, Iwatsubo T, Iwata A, Yamada M, Ikeuchi T, Jia JP, Wang HL, Teunissen CE, Peskind E, Blennow K, Cummings J, Vergallo A. State-of-the-art of lumbar puncture and its place in the journey of patients with Alzheimer’s disease. Alzheimers & Dementia. 2022; 18(1). DOI:10.1002/alz.12372. PMID:34043269. IF:14 (Q1/1D). Document type: Review. Document type: Article.
Hatton C, Ghanem SS, Koss DJ, Abdi IY, Gibbons E, Guerreiro R, Bras J, Walker L, Gelpi E, Heywood W, Outeiro TF, Attems J, McFarland R, Forsyth R, El OM, Erskine D, LLEO A, Int Genetics Consortium DLB. Prion-like alpha-synuclein pathology in the brain of infants with Krabbe disease. 2022; 145(4). DOI:10.1093/brain/awac002. PMID:34999780. IF:14,5 (Q1/1D). Document type: Article.
Holstege H, Hulsman M, Charbonnier C, Grenier B, Quenez O, Grozeva D, van JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossu P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernandez MV, et al. [Lleo A]. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease. NATURE GENETICS. 2022; 54(12). DOI:10.1038/s41588-022-01208-7. PMID:36411364. IF:30,8 (Q1/1D). Document type: Article.
Homann J, Osburg T, Ohlei O, Dobricic V, Deecke L, Bos I, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Wittig M, Franke A, Lill CM, Blennow K, Zetterberg H, Lovestone S, Streffer J, ten M, Vos SJB, Barkhof F, Visser PJ, Bertram L. Genome-Wide Association Study of Alzheimer’s Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery Dataset. Frontiers in Aging Neuroscience. 2022; 14:840651. DOI:10.3389/fnagi.2022.840651. PMID:35386118. IF:4,8 (Q2/3D). Document type: Article.
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, Apoil M, Boulanger M, Viader F, Kumar S, Srikanth V, Khurram A, Fazekas F, Bruno V, Zipfel GJ, Refai D, Rabinstein A, Graff J, Werring DJ. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3)DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF:6,6 (Q1/2D). Document type: Article.
Illan I, Montal V, Borrego S, Mandelli ML, Falgas N, Welch AE, Pegueroles J, Santos M, Bejanin A, Alcolea D, Dols O, Belbin O, Sanchez MB, Bargallo N, Gonzalez S, Llado A, Blesa R, Dickerson BC, Rosen HJ, Miller BL, Lleo A, Gorno ML, Sanchez R, Fortea J. Cortical microstructure in primary progressive aphasia: a multicenter study. Alzheimers Research & Therapy. 2022; 14(1):27. DOI:10.1186/s13195-022-00974-0. PMID:35139897. IF:9 (Q1/1D). Document type: Article.
Illan I, Nigro S, VandeVrede L, Falgas N, Heuer HW, Painous C, Compta Y, Marti MJ, Montal V, Pagonabarraga J, Kulisevsky J, Lleo A, Fortea J, Logroscino G, Quattrone A, Quattrone A, Perry DC, Gorno ML, Rosen HJ, Grinberg LT, Spina S, La Joie R, Rabinovici GD, Miller BL, Rojas JC, Seeley WW, Boxer AL. Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration. JAMA Network Open. 2022; 5(4):e229588. DOI:10.1001/jamanetworkopen.2022.9588. PMID:35486397. IF:13,8 (Q1/1D). Document type: Article.
Iulita MF, Chavez DG, Christensen MK, Tamayo NV, Plana O, Rasmussen SA, Figuls MR, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona M, Blesa R, Lleo A, Bejanin A, Fortea J. Association of Alzheimer Disease with Life Expectancy in People with Down Syndrome. JAMA Network Open. 2022; 5(5):e2212910. DOI:10.1001/jamanetworkopen.2022.12910. PMID:35604690. IF:13,8 (Q1/1D). Document type: Article.
Jansen RE, van der Lee SJ, Gomez D, de Rojas I, Dalmasso MC, Grenier B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Kucukali F, Sung YJ, Tesi N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, et al. [Dols O, Fortea J, Lleo A]. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers. ACTA NEUROPATHOLOGICA. 2022; 144(5). DOI:10.1007/s00401-022-02454-z. PMID:36066633. IF:12,7 (Q1/1D). Document type: Article.
Jansen WJ, Janssen O, Tijms BM, Vos SJB, Ossenkoppele R, Visser PJ, Alcolea D, Amyloid Biomarker Study GRP. Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum. JAMA Neurology. 2022; 79(3). DOI:10.1001/jamaneurol.2021.5216. PMID:35099509. IF:29 (Q1/1D). Document type: Article.
Janssen O, Jansen WJ, Vos SJB, Boada M, Parnetti L, Gabryelewicz T, Fladby T, Molinuevo JL, Villeneuve S, Hort J, Epelbaum S, Lleo A, Engelborghs S, van der Flier WM, Landau S, Popp J, Wallin A, Scheltens P, Rikkert MO, Snyder PJ, Rowe C, Chetelat G, Ruiz A, Marquie M, Chipi E, Wolfsgruber S, Heneka M, Boecker H, Peters O, Jarholm J, Rami L, Tort A, Binette AP, Poirier J, Rosa P, Cerman J, Dubois B, Teichmann M, Alcolea D, Fortea J, Sanchez MB, Ebenau J, Pocnet C, Eckerstrom M, Thompson L, Villemagne V, Buckley R, Burnham S, Delarue M, Freund Y, Wallin AK, Ramakers I, Tsolaki M, Soininen H, Hampel H, Spiru L, Tijms B, Ossenkoppele R, Verhey FRJ, Jessen F, Visser PJ. Characteristics of subjective cognitive decline associated with amyloid positivity. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12512. PMID:34877782. IF:14 (Q1/1D). Document type: Article.
Kaivola K, Shah Z, Chia R, Scholz SW, Alcolea D, Clarimón J, Fortea J, Lleó A, Int Genomics Consortium LBD. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups. 2022; 145(5). DOI:10.1093/brain/awab402. PMID:35381062. IF:14,5 (Q1/1D). Document type: Article.
Koutsouleris N, Pantelis C, Velakoulis D, McGuire P, Dwyer DB, Urquijo MF, Paul R, Sen D, Popovic D, Oeztuerk O, Kambeitz J, Salokangas RKR, Hietala J, Bertolino A, Brambilla P, Upthegrove R, Wood SJ, Lencer R, Borgwardt S, Maj C, Nothen M, Degenhardt F, Polyakova M, Mueller K, Villringer A, Danek A, Fassbender K, Fliessbach K, Jahn H, Kornhuber J, Landwehrmeyer B, Anderl S, Prudlo J, Synofzik M, Wiltfang J, Riedl L, Diehl J, Otto M, Meisenzahl E, Falkai P, Schroeter ML, Lleo A, Int FTD I, German Frontotemporal Lobar D, PRONIA C. Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning Dementia Praecox Revisited. JAMA Psychiatry. 2022; 79(9). DOI:10.1001/jamapsychiatry.2022.2075. PMID:35921104. IF:25,8 (Q1/1D). Document type: Article.
Lennol MP, Sanchez I, Cuchillo I, Camporesi E, Brinkmalm G, Alcolea D, Fortea J, Lleo A, Soria G, Aguado F, Zetterberg H, Blennow K, Saez J. Apolipoprotein E imbalance in the cerebrospinal fluid of Alzheimer’s disease patients. Alzheimers Research & Therapy. 2022; 14(1):161. DOI:10.1186/s13195-022-01108-2. PMID:36324176. IF:9 (Q1/1D). Document type: Article.
Lleo A, Illan I. Early Motor Changes in Genetic Frontotemporal Dementia. NEUROLOGY. 2022; 99(10). DOI:10.1212/WNL.0000000000200967. PMID:36219793. IF:9,9 (Q1/1D). Document type: Editorial material.
Mohaupt P, Pons ML, Vialaret J, Delaby C, Hirtz C, Lehmann S. beta-Synuclein as a candidate blood biomarker for synaptic degeneration in Alzheimer’s disease. Alzheimers Research & Therapy. 2022; 14(1):179. DOI:10.1186/s13195-022-01125-1. PMID:36451155. IF:9 (Q1/1D). Document type: Review.
Montal V, Diez I, Kim CM, Orwig W, Bueicheku E, Gutierrez R, Bejanin A, Pegueroles J, Dols O, Vannini P, El G, Johnson KA, Sperling RA, Fortea J, Sepulcre J. Network Tau spreading is vulnerable to the expression gradients of APOE and glutamatergic-related genes. Science Translational Medicin 2022; 14(655):eabn7273. DOI:10.1126/scitranslmed.abn7273. PMID:35895837. IF:17,1 (Q1/1D). Document type: Article.
Moreau M, Carmona M, Altuna M, Dalzon L, Barroeta I, Vilaire M, Durand S, Fortea J, Rebillat AS, Janel N. DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients. 2022; 10(6):1380. DOI:10.3390/biomedicines10061380. PMID:35740400. IF:4,7 (Q1/3D). Document type: Article.
Orellana A, Garcia P, Valero S, Montrreal L, de Rojas I, Hernandez I, Rosende M, Vargas L, Tartari JP, Antonio E, Bojaryn U, Narvaiza L, Alarcon E, Alegret M, Alcolea D, Lleo A, Tarraga L, Pytel V, Cano A, Marquie M, Boada M, Ruiz A. Establishing In-House Cutoffs of CSF Alzheimer’s Disease Biomarkers for the AT(N) Stratification of the Alzheimer Center Barcelona Cohort. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(13):6891. DOI:10.3390/ijms23136891. PMID:35805894. IF:5,6 (Q1/3D). Document type: Article.
Padilla C, Montal V, Walpert MJ, Hong YT, Fryer TD, Coles JP, Aigbirhio FI, Hartley SL, Cohen AD, Tudorascu DL, Christian BT, Handen BL, Klunk WE, Holland AJ, Zaman SH. Cortical atrophy and amyloid and tau deposition in Down syndrome: A longitudinal study. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2022; 14(1):e12288. DOI:10.1002/dad2.12288. PMID:35386472. Document type: Article.
Perez S, Alvarez I, Rosas I, Menendez M, Blazquez M, Aguilar M, Corte D, Buongiorno M, Molina L, Aldecoa I, Marti MJ, Sanchez P, Infante J, Gonzalez I, Garcia P, Rosende M, Boada M, Ruiz A, Perinan MT, Macias D, Munoz L, Gomez P, Mir P, Clarimon J, Lleo A, Alcolea D, De la Casa B, Duarte I, Alvarez V, Pastor P. Intermediate and Expanded HTT Alleles and the Risk for alpha-Synucleinopathies. MOVEMENT DISORDERS. 2022; 37(9). DOI:10.1002/mds.29153. PMID:35852957. IF:8,6 (Q1/1D). Document type: Article.
Querol M, Sirisi S, Molina L, Molina B, Pegueroles J, Ferrer P, Nunez R, Dols O, Balasa M, Iulita MF, Blesa R, Belbin O, Clarimon J, Fortea J, Gelpi E, Sanchez R, Lleo A. Neuropathology of a patient with Alzheimer disease treated with low doses of verubecestat. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 2022; 48(3):e12781. DOI:10.1111/nan.12781. PMID:34825396. IF:5 (Q1/2D). Document type: Article.
Ramírez S, Haddad R, Radosevic M, Toledo M, Pané A, Alcolea D, Ribas V, Milà M, Pozo M, Obri A, Eyre E, Gómez AG, Chivite I, Van T, Zalachoras I, Altirriba J, Bauder C, Imbernón M, Garrabou G, Garcia C, Nogueiras R, Soto D, Gasull X, Sandi C, Brüning JC, Fortea J, Jiménez A, Fernández JC, Claret M. Hypothalamic pregnenolone mediates recognition memory in the context of metabolic disorders. Cell Metabolism. 2022; 34(2). DOI:10.1016/j.cmet.2021.12.023. PMID:35108514. IF:29 (Q1/1D). Document type: Article.
Reyes D, Dols O, Sirisi S, Cortes E, Turon J, De Luna N, Blesa R, Belbin O, Montal V, Alcolea D, Fortea J, Lleo A, Rojas R, Illan I. Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies. Frontiers in Neurology. 2022; 12:750543. DOI:10.3389/fneur.2021.750543. PMID:35115992. IF:3,4 (Q2/5D). Document type: Review. Document type: Article.
Rosas I, Morís G, Coto E, Blázquez M, Suárez E, García C, Martínez C, Herrera ID, Pérez S, Álvarez V, Menéndez M, Adarmes AD, Aguilar M, Alvarez I, Barrero FJ, Bergareche JA, Bonilla M, Botía JA, Boungiorno MT, Buiza D, Cámara A, Carrillo F, Cerdan D, Clarimón J, Compta Y, Diez M, Dols O, de Fabregues O, Cartagena PS, Duarte J, Duran R, Escamilla F, et al. [Kulisevsky J, Pagonabarraga J, Pascual B]. Smoking is associated with age at disease onset in Parkinson’s disease. PARKINSONISM & RELATED DISORDERS. 2022; 97. DOI:10.1016/j.parkreldis.2022.03.005. PMID:35364453. IF:4,1 (Q2/3D). Document type: Article.
Ruiz I, Horta A, Illan I, Kulisevsky J, Pagonabarraga J. Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities. Frontiers in Neurology. 2022; 13:861585. DOI:10.3389/fneur.2022.861585. PMID:35557621. IF:3,4 (Q2/5D). Document type: Review.
Salwierz P, Davenport C, Sumra V, Iulita MF, Ferretti MT, Tartaglia MC. Sex and gender differences in dementia. International Review of Neurobiology. 2022; DOI:10.1016/bs.irn.2022.07.002. PMID:36038204. Document type: Article.
Sexton C, Solis M, Aharon J, Alexopoulos P, Apostolova LG, Bayen E, Birkenhager B, Cappa S, Constantinidou F, Fortea J, Gerritsen DL, Hassanin HI, Ibanez A, Ioannidis P, Karageorgiou E, Korczyn A, Leroi I, Lichtwarck B, Logroscino G, Lynch C, Mecocci P, Molinuevo JL, Papatriantafyllou J, Papegeorgiou S, Politis A, Raman R, Ritchie K, Sanchez P, Sano M, Scarmeas N, Spiru L, Stathi A, Tsolaki M, Yener G, Zaganas I, Zygouris S, Carrillo M. Alzheimer’s disease research progress in the Mediterranean region: The Alzheimer’s Association International Conference Satellite Symposium. Alzheimers & Dementia. 2022; 18(10). DOI:10.1002/alz.12588. PMID:35184367. IF:14 (Q1/1D). Document type: Review.
Sirisi S, Querol M, Dols O, Pegueroles J, Montal V, Munoz L, Torres S, Ferrer P, Iulita MF, Sanchez E, Blesa R, Illan I, Molina L, Borrego S, Sanchez R, Clarimon J, Belbin O, Fortea J, Lleo A. Myelin loss in C9orf72 hexanucleotide expansion carriers. JOURNAL OF NEUROSCIENCE RESEARCH. 2022; 100(10). DOI:10.1002/jnr.25100. PMID:35766328. IF:4,2 (Q2/4D). Document type: Article.
Valle N, Pérez R, Chiva G, Belbin O, Serrano S, Sirisi S, González AC, Giró O, Sánchez É, Dols O, Alcolea D, Carmona M, Jimenez A, Lleó A, Fortea J, Iulita MF. Enrichment of Astrocyte-Derived Extracellular Vesicles from Human Plasma. Jove-Journal of Visualized Experiments. 2022; 2022(186):e64107. DOI:10.3791/64107. PMID:35993755. IF:1,2 (Q3/8D). Document type: Article.
Videla L, Benejam B, Pegueroles J, Carmona M, Padilla C, Fernandez S, Barroeta I, Altuna M, Valldeneu S, Garzon D, Ribas L, Montal V, Martinez JA, Aranha MR, Alcolea D, Bejanin A, Iulita MF, Ces SV, Blesa R, Lleo A, Fortea J. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome. JAMA Network Open. 2022; 5(8):e2225573. DOI:10.1001/jamanetworkopen.2022.25573. PMID:35930282. IF:13,8 (Q1/1D). Document type: Article.
Villarejo A, Garcia E, Pinol G, del Olmo A, Vinuela F, Boada M, Franco E, de la Pena AI, Riverol M, Puig A, Abizanda P, Arroyo R, Baquero M, Feria I, Balasa M, Berbel A, Rodriguez E, Vieira A, Garcia G, Rodrigo S, Lleo A, Maurino J. Awareness of Diagnosis in Persons with Early-Stage Alzheimer’s Disease: An Observational Study in Spain. Neurology and Therapy. 2022; 11(3). DOI:10.1007/s40120-022-00367-3. PMID:35648383. IF:3,7 (Q2/4D). Document type: Article.
Villarejo A, Garcia E, Pinol G, del Olmo A, Vinuela F, Boada M, Franco E, de la Pena AI, Riverol M, Puig A, Abizanda P, Arroyo R, Baquero M, Feria I, Balasa M, Berbel A, Rodriguez E, Vieira A, Garcia G, Rodrigo S, Terrancle A, Prefasi D, Lleo A, Maurino J. Quality of Life and the Experience of Living with Early-Stage Alzheimer’s Disease. JOURNAL OF ALZHEIMERS DISEASE. 2022; 90(2). DOI:10.3233/JAD-220696. PMID:36155523. IF:4 (Q2/4D). Document type: Article.
Visser PJ, Reus LM, Gobom J, Jansen I, Dicks E, Van der Lee SJ, Tsolaki M, Verhey FRJ, Popp J, Martinez P, Vandenberghe R, Lleo A, Molinuevo JL, Engelborghs S, Freund Y, Froelich L, Sleegers K, Dobricic V, Lovestone S, Streffer J, Vos SJB, Bos I, Smit AB, Blennow K, Scheltens P, Teunissen CE, Bertram L, Zetterberg H, Tijms BM, A. Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease. Molecular Neurodegeneration. 2022; 17(1):27. DOI:10.1186/s13024-022-00521-3. PMID:35346299. IF:15,1 (Q1/1D). Document type: Article.
Zaman S, Fortea J. Focal Point The crucial history of Down syndrome. LANCET NEUROLOGY. 2022; 21(3). DOI:10.1016/S1474-4422(22)00047-3. PMID:35182507. IF:48 (Q1/1D). Document type: In context.
Zhang YT, Ghose U, Buckley NJ, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleo A, Popp J, Martinez P, Legido C, Barkhof F, Zetterberg H, Visser PJ, Bertram L, Lovestone S, Nevado AJ, Shi L. Predicting AT(N) pathologies in Alzheimer’s disease from blood-based proteomic data using neural networks. Frontiers in Aging Neuroscience. 2022; 14:1040001. DOI:10.3389/fnagi.2022.1040001. PMID:36523958. IF:4,8 (Q2/3D). Document type: Article.

Publications 2021

Alcolea D, Delaby C, Munoz L, Torres S, Estelles T, Zhu N, Barroeta I, Carmona M, Illan I, Santos MA, Altuna M, Sala I, Sanchez MB, Videla L, Valldeneu S, Subirana A, Pegueroles J, Hirtz C, Vialaret J, Lehmann S, Karikari TK, Ashton NJ, Blennow K, Zetterberg H, Belbin O, Blesa R, Clarimon J, Fortea J, Lleo A. Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(11). DOI:10.1136/jnnp-2021-326603. PMID:34103344. IF: 13,654
Altuna M, Gimenez S, Fortea J. Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity. Journal of Clinical Medicine. 2021; 10(13):2776. DOI:10.3390/jcm10132776. PMID:34202784. IF: 4,964
Aschenbrenner AJ, Baksh RA, Benejam B, Beresford JA, Coppus A, Fortea J, Handen BL, Hartley S, Head E, Jaeger J, Levin J, Loosli SV, Rebillat AS, Sacco S, Schmitt FA, Thurlow KE, Zaman S, Hassenstab J, Strydom A. Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring. 2021; 13(1):e12184. DOI:10.1002/dad2.12184. PMID:33969175. FI: 16,655
Ashton NJ, Janelidze S, Al Khleifat A, Leuzy A, van der Ende EL, Karikari TK, Benedet AL, Pascoal TA, Lleo A, Parnetti L, Galimberti D, Bonanni L, Pilotto A, Padovani A, Lycke J, Novakova L, Axelsson M, Velayudhan L, Rabinovici GD, Miller B, Pariante C, Nikkheslat N, Resnick SM, Thambisetty M, Scholl M, Fernandez G, Gil FJ, de Munain AL, Al A, Rosa P, et al. A multicentre validation study of the diagnostic value of plasma neurofilament light. Nature Communications. 2021; 12(1):3400. DOI:10.1038/s41467-021-23620-z. IF: 17,694
Barranco N, Pla V, Alcolea D, Sanchez I, Fischer R, Ferrer I, Lleo A, Aguado F. Dense core vesicle markers in CSF and cortical tissues of patients with Alzheimer’s disease. Translational Neurodegeneration. 2021; 10(1):37. DOI:10.1186/s40035-021-00263-0. PMID:34565482. IF: 9,883
Bejanin A, Iulita MF, Vilaplana E, Carmona M, Benejam B, Videla L, Barroeta I, Fernandez S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, Gonzalez S, Munoz L, Padilla C, Aranha MR, Estelles T, Illan I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, et al. [Alcolea D, Clarimon J, Blesa R, Lleo A, Fortea J]. Association of Apolipoprotein E epsilon 4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome. JAMA Neurology. 2021; 78(8). DOI:10.1001/jamaneurol.2021.1893. PMID:34228042. IF: 29,907
Blauwendraat C, Iwaki H, Makarious MB, Bandres S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrom L, Toft M, van JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, et al. [Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J]. Investigation of Autosomal Genetic Sex Differences in Parkinson’s Disease. ANNALS OF NEUROLOGY. 2021; 90(1). DOI:10.1002/ana.26090. PMID:33901317. IF: 11,274
Bostrom G, Freyhult E, Virhammar J, Alcolea D, Tumani H, Otto M, Brundin RM, Kilander L, Lowenmark M, Giedraitis V, Lleo A, von C, Kultima K, Ingelsson M. Different Inflammatory Signatures in Alzheimer’s Disease and Frontotemporal Dementia Cerebrospinal Fluid. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(2). DOI:10.3233/JAD-201565. PMID:33814444. IF: 4,160
Bueicheku E, Gonzalez JM, Ortiz L, Montal V, Uquillas FD, De Marcos L, Orwig W, Kim CM, Ortiz E, Basaia S, Diez I, Sepulcre J. Divergent connectomic organization delineates genetic evolutionary traits in the human brain. Scientific Reports. 2021; 11(1):19692. DOI:10.1038/s41598-021-99082-6. PMID:34608211. IF: 4,996
Calabria M, Jefferies E, Sala I, Morenas-Rodriguez E, Illan-Gala I, Montal V, Fortea J, Lleo A, Costa A. Multilingualism in semantic dementia: language-dependent lexical retrieval from degraded conceptual representations. APHASIOLOGY. 2021; 35(2):240-266. DOI:10.1080/02687038.2019.1693025. IF: 1,902
Carmona M, Alcolea D, Barroeta I, Videla L, Munoz L, Van KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare I, Holland AJ, Nubling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleo A, Fortea J. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study. LANCET NEUROLOGY. 2021; 20(8). DOI:10.1016/S1474-4422(21)00129-0. PMID:34302785. IF: 59,935
Chen ZB, Zhang D, Reynolds RH, Gustavsson EK, Garcia S, D’Sa K, Fairbrother A, Vandrovcova J, Hardy J, Houlden H, Taliun S, Botia J, Ryten M, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, Int Parkinson’s Dis Genomics C. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. 2021; 12(1):2076. DOI:10.1038/s41467-021-22262-5. PMID:33824317. IF: 17,694
Chia R, Sabir MS, Bandres S, Saez S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding JH, Makarious MB, Diez M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George P, Londos E, Morgan K, et al. [Lleo A, Fortea J, Alcolea D, Clarimon J]. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. NATURE GENETICS. 2021; 53(3). DOI:10.1038/s41588-021-00785-3. PMID:33589841. IF: 41,307
de Asua DR, Mayer MA, Ortega MD, Borrel JM, Bermejo TD, Gonzalez D, Manso C, Moldenhauer F, Carmona M, Huls A, Sherman SL, Strydom A, de la Torre R, Dierssen M, Spanish Trisomy Res Soc COVID 21. Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome. Journal of Clinical Medicine. 2021; 10(16):3748. DOI:10.3390/jcm10163748. PMID:34442043. IF: 4,964
De Kort AM, Kuiperij HB, Alcolea D, Kersten I, Versleijen A, Greenberg SM, Stoops E, Schreuder FHBM, Klijn CJM, Lleo A, Claassen J, Verbeek MM. Cerebrospinal fluid levels of the neurotrophic factor neuroleukin are increased in early Alzheimer’s disease, but not in cerebral amyloid angiopathy. Alzheimers Research & Therapy. 2021; 13(1):160. DOI:10.1186/s13195-021-00899-0. PMID:34560885. IF: 8,823
de Rojas I, Moreno S, Tesi N, Grenier B, Andrade V, Pedersen NL, Stringa N, Zettergren A, Hernandez I, Montrreal L, Antunez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, Gonzalez A, Calero M, Franco E, Macias J, Blesa R, Cervera L, Menendez M, Frank A, Royo JL, Moreno F, Vilas RH, et al. [Alcolea D, Fortea J, Lleo A, Clarimon J]. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications. 2021; 12(1):3417. DOI:10.1038/s41467-021-22491-8. PMID:34099642. IF: 17,694
Dekker AD, Ulgiati AM, Groen H, Boxelaar VA, Sacco S, Falquero S, Carfi A, di A, Benejam B, Valldeneu S, Fopma R, Oosterik M, Hermelink M, Beugelsdijk G, Schippers M, Henstra H, Scholten M, Willink J, de Ruiter L, Willems L, Loonstra A, Coppus A, Tollenaere M, Fortea J, Onder G, Rebillat AS, Van D, De Deyn PP. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS II): Optimization and Further Validation. JOURNAL OF ALZHEIMERS DISEASE. 2021; 81(4). DOI:10.3233/JAD-201427. PMID:33967040. IF: 4,160
Delaby C, Julian A, Page G, Ragot S, Lehmann S, Paccalin M. NFL strongly correlates with TNF-R1 in the plasma of AD patients, but not with cognitive decline. Scientific Reports. 2021;11(1):10283. DOI:10.1038/s41598-021-89749-5. PMID: 33986423. IF: 4,996
Delaby C, Vialaret J, Hirtz C, Lefebvre T, Herkert M, Puy H, Lasocki S, Lehmann S; HEPCIDANE study group. Analytical comparison of ELISA and mass spectrometry for quantification of serum hepcidin in critically ill patients. Bioanalysis. 2021;13(13):1029-1035. DOI:10.4155/bio-2021-0069. PMID: 34100293. IF: 2,695
Dewan R, Chia R, Ding JH, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibanez K, Shankaracharya F, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF, Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, et al. [Clarimón J, Dols O, Illan I, Lleó A]. Article Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. NEURON. 2021; 109(3). DOI:10.1016/j.neuron.2020.11.005. PMID:33242422. IF: 18,688
Dierssen M, Herault Y, Helguera P, de Lagran MM, Vazquez A, Christian B, Carmona M, Wiseman F, Mobley W, Fisher E, Brault V, Esbensen A, Jacola LM, Potier MC, Hamlett ED, Abbeduto L, Soriano LD, Busciglio J, Iulita MF, Crispino J, Malinge S, Barone E, Perluigi M, Costanzo F, Delabar JM, Bartesaghi R, Dekker AD, De Deyn P, Ormaechea JF, et al. Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society. Molecular Syndromology. 2021; 12(4). DOI:10.1159/000514437. PMID:34421499. IF: 1,494
Dubois B, Villain N, Frisoni GB, Rabinovici GD, Sabbagh M, Cappa S, Bejanin A, Bombois S, Epelbaum S, Teichmann M, Habert MO, Nordberg A, Blennow K, Galasko D, Stern Y, Rowe CC, Salloway S, Schneider LS, Cummings JL, Feldman HH. Clinical diagnosis of Alzheimer’s disease: recommendations of the International Working Group. LANCET NEUROLOGY. 2021; 20(6). DOI:10.1016/S1474-4422(21)00066-1. PMID:33933186. IF: 59,935
Falgas N, Illan I, Allen IE, Mumford P, Essanaa YM, Le MM, You M, Grinberg LT, Rosen HJ, Neylan TC, Kramer JH, Walsh CM. Specific cortical and subcortical grey matter regions are associated with insomnia severity. PLoS One. 2021; 16(5):e0252076. DOI:10.1371/journal.pone.0252076. PMID:34038462. IF: 3,752
Ferrer P, Beyer K. Alternative platelet activation pathways and their role in neurodegenerative diseases. NEUROBIOLOGY OF DISEASE. 2021; 159:105512. DOI:10.1016/j.nbd.2021.105512. PMID:34537329. IF: 7,046
Flores L, Iulita MF, Orciani C, Tanna N, Yang JY, Bennett DA, Cuello AC. Cognitive and brain cytokine profile of non-demented individuals with cerebral amyloid-beta deposition. Journal of Neuroinflammation. 2021; 18(1):147. DOI:10.1186/s12974-021-02169-0. PMID:34218796. IF: 9,587
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona M. Alzheimer’s disease associated with Down syndrome: a genetic form of dementia. LANCET NEUROLOGY. 2021; 20(11). DOI:10.1016/S1474-4422(21)00245-3. PMID:34687637. IF: 59,935
Frederiksen KS, Nielsen TR, Appollonio I, Andersen BB, Riverol M, Boada M, Ceccaldi M, Dubois B, Engelborghs S, Frölich L, Hausner L, Gabelle A, Gabryelewicz T, Grimmer T, Hanseeuw B, Hort J, Hugon J, Jelic V, Koivisto A, Kramberger MG, Lebouvier T, Lleó A, de Mendonça A, Nobili F, Ousset PJ, Perneczky R, Olde Rikkert M, Robinson D, et al. Biomarker counseling, disclosure of diagnosis and follow-up in patients with mild cognitive impairment: A European Alzheimer’s disease consortium survey. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021;36(2):324-333. DOI:10.1002/gps.5427. PMID: 32896040. IF: 3,850
Gimenez S, Altuna M, Blessing E, Osorio RM, Fortea J. Sleep Disorders in Adults with Down Syndrome. Journal of Clinical Medicine. 2021; 10(14):3012. DOI:10.3390/jcm10143012. PMID:34300177. IF: 4,964
Hong SJ, Dobricic V, Ohlei O, Bos I, Vos SJB, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Gabel S, Scheltens P, Teunissen CE, Engelborghs S, Frisoni G, Blin O, Richardson JC, Bordet R, Lleo A, Alcolea D, Popp J, Clark C, Peyratout G, Martinez P, Tainta M, Dobson RJB, Legido C, Sleegers K, Van C, Tanzi RE, ten M, Wittig M, et al. TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer’s disease biomarker levels. Alzheimers & Dementia. 2021; 17(10). DOI:10.1002/alz.12330. PMID:33991015. IF: 16,655
Horta A, Pagonabarraga J, Martinez S, Busteed L, Pascual B, Illan I, Marin J, Aracil I, Perez J, Sampedro F, Bejr H, Kulisevsky J. Cognitive and behavioral profile of progressive supranuclear palsy and its phenotypes. JOURNAL OF NEUROLOGY. 2021; 268(9). DOI:10.1007/s00415-021-10511-y. PMID:33704556. IF: 6,682
Hostettler IC, Wilson D, Fiebelkorn CA, Aum D, Ameriso SF, Eberbach F, Beitzke M, Kleinig T, Phan T, Marchina S, Schneckenburger R, Carmona M, Charidimou A, Mourand I, Parreira S, Ambler G, Jager HR, Singhal S, Ly J, Ma H, Touze E, Geraldes R, Fonseca AC, Melo T, Labauge P, Lefevre PH, Viswanathan A, Greenberg SM, Fortea J, et al. Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis. JOURNAL OF NEUROLOGY. 2022; 269(3). DOI:10.1007/s00415-021-10706-3. PMID:34272978. IF: 6,682
Illan I, Casaletto KB, Borrego S, Arenaza EM, Wolf A, Cobigo Y, Goh SYM, Staffaroni AM, Alcolea D, Fortea J, Blesa R, Clarimon J, Iulita MF, Brugulat A, Llado A, Grinberg LT, Possin K, Rankin KP, Kramer JH, Rabinovici GD, Boxer A, Seeley WW, Sturm VE, Gorno ML, Miller BL, Sanchez R, Perry DC, Lleo A, Rosen HJ. Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve. Alzheimers & Dementia. 2021; 17(8). DOI:10.1002/alz.12299. PMID:33590953. IF: 16,655
Illan I, Falgas N, Friedberg A, Castro S, Keret O, Rogers N, Oz D, Nigro S, Quattrone A, Quattrone A, Wolf A, Younes K, Santos M, Borrego S, Cobigo Y, Dols O, Llado A, Sanchez R, Clarimon J, Blesa R, Alcolea D, Fortea J, Lleo A, Grinberg LT, Spina S, Kramer JH, Rabinovici GD, Boxer A, Tempini MLG, Miller BL, Seeley WW, Rosen HJ, Perry DC. Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration. JAMA Network Open. 2021; 4(3):e211290. DOI:10.1001/jamanetworkopen.2021.1290. PMID:33704477. IF: 13,353
Illan I, Lleo A, Karydas A, Staffaroni AM, Zetterberg H, Sivasankaran R, Grinberg LT, Spina S, Kramer JH, Ramos EM, Coppola G, La Joie R, Rabinovici GD, Perry DC, Gorno ML, Seeley WW, Miller BL, Rosen HJ, Blennow K, Boxer AL, Rojas JC. Plasma Tau and Neurofilament Light in Frontotemporal Lobar Degeneration and Alzheimer Disease. NEUROLOGY. 2021; 96(5). DOI:10.1212/WNL.0000000000011226. PMID:33199433. IF: 11,800
Illouz T, Biragyn A, Frenkel M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu EE, Herault Y, Potier MC, Botte A, Roper R, Sredni B, Sarid R, London J, Mobley W, Strydom A, Okun E. Specific Susceptibility to COVID-19 in Adults with Down Syndrome (Mar, 10.1007/s12017-021-08651-5, 2021). NEUROMOLECULAR MEDICINE. 2021; 23(4). DOI:10.1007/s12017-021-08657-z. PMID:33948879. IF:3,843 (Q2/D5).
Illouz T, Biragyn A, Iulita MF, Flores L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botte A, Roper R, Sredni B, London J, Mobley W, Strydom A, Okun E, COVID T21RS. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 2021; 12:621440. DOI:10.3389/fimmu.2021.621440. PMID:34248930. IF: 8,786
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botia J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW, Clarimón J, Dols O, Kulisevsky J, Pagonabarraga J, United B, Int Parkinsons Dis G. Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology. 2021; 78(4). DOI:10.1001/jamaneurol.2020.5257. PMID:33523105. IF: 29,907
Kim CM, Montal V, Diez I, Orwig W, Sepulcre J, Alzheimer’s N. Network interdigitations of Tau and amyloid-beta deposits define cognitive levels in aging. HUMAN BRAIN MAPPING. 2021; 42(10). DOI:10.1002/hbm.25350. PMID:33955621. IF: 5,399
Lage C, Lopez S, Bejanin A, Kazimierczak M, Aracil I, Calvo A, Pozueta A, Garcia M, Fernandez A, Bravo M, Jimenez J, Banzo I, Irure J, Pegueroles J, Illan I, Fortea J, Rodriguez E, Lleo A, Garcia CE, Sanchez P. Distinctive Oculomotor Behaviors in Alzheimer’s Disease and Frontotemporal Dementia. Frontiers in Aging Neuroscience. 2021; 12:603790. DOI:10.3389/fnagi.2020.603790. PMID:33613262. IF: 5,702
Lawingco T, Chaudhury S, Brookes KJ, Guetta T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, A beta-, and tau-related pathways determine polygenic risk for Alzheimer’s disease. NEUROBIOLOGY OF AGING. 2021; 101. DOI:10.1016/j.neurobiolaging.2020.11.009. PMID:33303219. IF: 5,133
Ledreux A, Thomas S, Hamlett ED, Trautman C, Gilmore A, Hager ER, Paredes DA, Margittai M, Fortea J, Granholm AC. Small Neuron-Derived Extracellular Vesicles from Individuals with Down Syndrome Propagate Tau Pathology in the Wildtype Mouse Brain. Journal of Clinical Medicine. 2021; 10(17):3931. DOI:10.3390/jcm10173931. PMID:34501378. IF: 4,964
Lleo A, Carmona M, Videla L, Fernandez S, Benejam B, Pegueroles J, Barroeta I, Altuna M, Valldeneu S, Xiao MF, Xu DS, Nunez R, Querol M, Sirisi S, Bejanin A, Iulita MF, Clarimon J, Blesa R, Worley P, Alcolea D, Fortea J, Belbin O. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome. Alzheimers Research & Therapy. 2021; 13(1):119. DOI:10.1186/s13195-021-00861-0. PMID:34183050. IF: 8,823
Lleo A, Zetterberg H, Pegueroles J, Karikari TK, Carmona M, Ashton NJ, Montal V, Barroeta I, Lantero J, Videla L, Altuna M, Benejam B, Fernandez S, Valldeneu S, Garzon D, Bejanin A, Iulita MF, Camacho V, Medrano S, Belbin O, Clarimon J, Lehmann S, Alcolea D, Blesa R, Blennow K, Fortea J. Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome. Nature Communications. 2021; 12(1):4304. DOI:10.1038/s41467-021-24319-x. PMID:34262030. IF: 17,694
Martin L, Camps P, Lleixa C, Pascual E, Diaz J, Rojas R, De Luna N, Gallardo E, Cortes E, Munoz L, Alcolea D, Lleo A, Casasnovas C, Homedes C, Gutierrez G, Jimeno MC, Berciano J, Sedano MJ, Garcia T, Pardo J, Marquez C, Rojas I, Jerico I, Martinez E, de la Tassa GM, Dominguez C, Illa I, Querol L. Serum neurofilament light chain predicts long-term prognosis in Guillain-Barre syndrome patients. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(1). DOI:10.1136/jnnp-2020-323899. PMID:33154183. IF: 13,654
Montal V, Barroeta I, Bejanin A, Pegueroles J, Carmona M, Altuna M, Benejam B, Videla L, Fernandez S, Padilla C, Aranha MR, Iulita MF, Vidal D, Alcolea D, Blesa R, Lleo A, Fortea J. Metabolite Signature of Alzheimer’s Disease in Adults with Down Syndrome. ANNALS OF NEUROLOGY. 2021; 90(3). DOI:10.1002/ana.26178. PMID:34309066. IF: 11,274
Montal V, Vilaplana E, Pegueroles J, Bejanin A, Alcolea D, Carmona M, Clarimon J, Levin J, Cruchaga C, Graff NR, Noble JM, Lee JH, Allegri R, Karch CM, Laske C, Schofield PR, Salloway S, Ances B, Benzinger T, McDale E, Bateman R, Blesa R, Sanchez R, Lleo A, Fortea J, D. Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12224. PMID:33196147. IF: 16,655
Moreno S, Fernandez MV, de Rojas I, Garcia P, Hernandez I, Farias F, Budde JP, Quintela I, Madrid L, Gonzalez A, Montrreal L, Alarcon E, Alegret M, Maronas O, Pineda JA, Macias J, Marquie M, Valero S, Benaque A, Clarimon J, Bullido MJ, Garcia G, Pastor P, Sanchez P, Alvarez V, Pinol G, Garcia JM, Royo JL, Franco E, Mir P, et al. [Blesa R, Fortea J, Lleó A]. Long runs of homozygosity are associated with Alzheimer’s disease. Translational Psychiatry. 2021; 11(1):142. DOI:10.1038/s41398-020-01145-1. PMID:33627629. IF: 7,989
Pagonabarraga J, Horta A, Busteed L, Bejr H, Illan I, Aracil I, Marin J, Pascual B, Perez J, Campolongo A, Izquierdo C, Martinez S, Sampedro F, Kulisevsky J. Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy. PARKINSONISM & RELATED DISORDERS. 2021; 85. DOI:10.1016/j.parkreldis.2021.03.002. PMID:33744691. IF: 4,402
Pegueroles J, Montal V, Bejanin A, Vilaplana E, Aranha M, Santos MA, Alcolea D, Carrio I, Camacho V, Blesa R, Lleo A, Fortea J. AMYQ: An index to standardize quantitative amyloid load across PET tracers. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12317. PMID:33797846. IF: 16,655
Pentz R, Iulita MF, Ducatenzeiler A, Videla L, Benejam B, Iragui MC, Blesa R, Lleo A, Fortea J, Cuello AC. Nerve growth factor (NGF) pathway biomarkers in Down syndrome prior to and after the onset of clinical Alzheimer’s disease: A paired CSF and plasma study. Alzheimers & Dementia. 2021; 17(4). DOI:10.1002/alz.12229. PMID:33226181. IF: 16,655
Pentz R, Iulita MF, Mikutra M, Ducatenzeiler A, Bennett DA, Cuello AC. A new role for matrix metalloproteinase-3 in the NGF metabolic pathway: Proteolysis of mature NGF and sex-specific differences in the continuum of Alzheimer’s pathology. NEUROBIOLOGY OF DISEASE. 2021; 148:105150. DOI:10.1016/j.nbd.2020.105150. PMID:33130223. IF: 7,046
Pentz R, Iulita MF. The NGF Metabolic Pathway: New Opportunities for Biomarker Research and Drug Target Discovery NGF Pathway Biomarkers and Drug Targets. Advances in Experimental Medicine and Biology. 2021; 1331. DOI:10.1007/978-3-030-74046-7_4. PMID:34453291. IF: 3,650
Petersen ME, Rafii MS, Zhang F, Hall J, Julovich D, Ances BM, Schupf N, Krinsky SJ, Mapstone M, Silverman W, Lott I, Klunk W, Head E, Christian B, Foroud T, Lai F, Rosas HD, Zaman S, Wang MC, Tycko B, Lee JH, Handen B, Hartley S, Fortea J, O’Bryant S, Alzheimers C. Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer’s Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(2). DOI:10.3233/JAD-201167. PMID:33337378. IF: 4,160
Peyron PA, Colomb S, Becas D, Adriansen A, Gauchotte G, Tiers L, Marin G, Lehmann S, Baccino E, Delaby C, Hirtz C. Cytokines as new biomarkers of skin wound vitality. INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(6):2537-2545. DOI:10.1007/s00414-021-02659-z. PMID: 34313846. IF: 2,791
Peyron PA, Hirtz C, Baccino E, Ginestet N, Tiers L, Martinez AY, Lehmann S, Delaby C. Tau protein in cerebrospinal fluid: a novel biomarker of the time of death? INTERNATIONAL JOURNAL OF LEGAL MEDICINE. 2021;135(5):2081-2089. DOI:10.1007/s00414-021-02558-3. PMID: 33740116. IF: 2,791
Reus LM, Pasaniuc B, Posthuma D, Boltz T, Pijnenburg Y, Ophoff RA, Lleó A, Blesa R, Ophoff RA. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. BIOLOGICAL PSYCHIATRY. 2021; 89(8). DOI:10.1016/j.biopsych.2020.12.023. PMID:33637304. IF: 12,810
Rodriguez E, Montal V, Sepulcre J, Lois C, Hanseeuw B, Vilaplana E, Schultz AP, Properzi MJ, Scott MR, Amariglio R, Papp KV, Marshall GA, Fortea J, Johnson KA, Sperling RA, Vannini P. Association of cortical microstructure with amyloid-beta and tau: impact on cognitive decline, neurodegeneration, and clinical progression in older adults. MOLECULAR PSYCHIATRY. 2021; 26(12). DOI:10.1038/s41380-021-01290-z. PMID:34588623. IF: 13,437
Rosas I, Martínez C, Coto E, Clarimón J, Lleó A, Illán-Gala I, Dols-Icardo O, Borroni B, Almeida MR, van der Zee J, Van Broeckhoven C; EU EOD Consortium, Bruni AC, Anfossi M, Bernardi L, Maletta R, Serpente M, Galimberti D, Scarpini E, Rossi G, Caroppo P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Antonell A, et al. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia. Neurobiology of Aging. 2021;99:99.e15-99.e22. DOI:10.1016/j.neurobiolaging. 2020.08.018. PMID: 32972771. IF: 5,133
Rujeedawa T, Félez EC, Clare ICH, Fortea J, Strydom A, Rebillat A-S, Coppus A, Levin J, Zaman SH. The clinical and neuropathological features of sporadic (Late-onset) and genetic forms of alzheimer’s disease. Journal of Clinical Medicine. 2021; 10(19):4582. DOI:10.3390/jcm10194582. PMID:34640600. IF: 4,964
Shi L, Buckley NJJ, Bos I, Engelborghs S, Sleegers K, Frisoni GB, Wallin A, Lleo A, Popp J, Martinez P, Legido C, Barkhof F, Zetterberg H, Visser PJ, Bertram L, Lovestone S, Nevado AJ. Plasma Proteomic Biomarkers Relating to Alzheimer’s Disease: A Meta-Analysis Based on Our Own Studies. Frontiers in Aging Neuroscience. 2021; 13:712545. DOI:10.3389/fnagi.2021.712545. PMID:34366831. IF: 5,702
Shi L, Winchester LM, Westwood S, Baird AL, Anand SN, Buckley NJ, Hye A, Ashton NJ, Bos I, Vos SJB, ten M, Scheltens P, Teunissen CE, Vandenberghe R, Gabel S, Meersmans K, Engelborghs S, De Roeck EE, Sleegers K, Frisoni GB, Blin O, Richardson JC, Bordet R, Molinuevo JL, Rami L, Wallin A, Kettunen P, Tsolaki M, Verhey F, Lleo A, Sala I, et al. Replication study of plasma proteins relating to Alzheimer’s pathology. Alzheimers & Dementia. 2021; 17(9). DOI:10.1002/alz.12322. PMID:33792144. IF: 16,655
Solana E, Martinez E, Montal V, Vilaplana E, Lopez E, Radua J, Sola N, Montejo C, Blanco Y, Pulido I, Sepulveda M, Andorra M, Berenguer J, Villoslada P, Martinez EH, Prados F, Saiz A, Fortea J, Llufriu S. Regional grey matter microstructural changes and volume loss according to disease duration in multiple sclerosis patients. Scientific Reports. 2021; 11(1):16805. DOI:10.1038/s41598-021-96132-x. PMID:34413373. IF: 4,996
Stantonyonge N, Martinez S, Sampedro F, Sanchez MB, Chico A. Defective involuntary attention to novelty in type 1 diabetes and impaired awareness of hypoglycaemia. DIABETES RESEARCH AND CLINICAL PRACTICE. 2021; 177:108898. DOI:10.1016/j.diabres.2021.108898. PMID:34098058. IF: 8,180
Storm CS, Kia DA, Almramhi MM, Bandres S, Finan C, Hingorani AD, Wood NW, Clarimón J, Dols O, Kulisevsky J, Marín J, Pagonabarraga J, Lynch TL. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome. Nature Communications. 2021; 12(1):7342. DOI:10.1038/s41467-021-26280-1. PMID:34930919. IF: 17,694
Tort A, Valech N, Laine M, Olives J, Leon M, Ecay M, Estanga A, Martinez P, Fortea J, Molinuevo JL, Sanchez R, Rodriguez A, Rami L. Accelerated long-term forgetting in individuals with subjective cognitive decline and amyloid-beta positivity. INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY. 2021; 36(7). DOI:10.1002/gps.5539. PMID:33792089. IF: 3,850
Tort-Merino A, Laine M, Valech N, Olives J, León M, Ecay-Torres M, Estanga A, Martínez-Lage P, Fortea J, Sánchez-Valle R, Rami L, Rodríguez-Fornells A. Accelerated long-term forgetting over three months in asymptomatic APOE ɛ4 carriers. Annals of Clinical and Translational Neurology. 2021;8(2):477-484. DOI:10.1002/acn3.51245. PMID: 33369208. IF: 5,430
van der Ende EL, Morenas E, McMillan C, Grossman M, Irwin D, Sanchez R, Graff C, Vandenberghe R, Pijnenburg Y, Laforce R, Le I, Lleo A, Haass C, Suarez M, van JC, Seelaar H. CSF sTREM2 is elevated in a subset in GRN-related frontotemporal dementia. NEUROBIOLOGY OF AGING. 2021; 103. DOI:10.1016/j.neurobiolaging.2021.02.024. PMID:33896652. IF: 5,133
van LJCV, Ghafoorian M, van E, Claassen J, Arighi A, Bozzali M, Cannas J, Cavedo E, Eusebi P, Farotti L, Fenoglio C, Fortea J, Frisoni GB, Galimberti D, Greco V, Herukka SK, Liu YW, Lleo A, de Mendonca A, Nobili FM, Parnetti L, Picco A, Pikkarainen M, Salvadori N, Scarpini E, Soininen H, Tarducci R, Urbani A, Vilaplana E, Meulenbroek O, Platel B, Verbeek MM, Kuiperij HB. White Matter Hyperintensities Are No Major Confounder for Alzheimer’s Disease Cerebrospinal Fluid Biomarkers. JOURNAL OF ALZHEIMERS DISEASE. 2021; 79(1). DOI:10.3233/JAD-200496. PMID:33252070. IF: 2,632
Ximelis T, Marin A, Espinosa JC, Erana H, Charco JM, Hernandez I, Riveira C, Alcolea D, Gonzalez E, Aldecoa I, Molina L, Parchi P, Rossi M, Castilla J, Ruiz R, Gelpi E, Torres JM, Sanchez R. Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. Alzheimers Research & Therapy. 2021; 13(1):176. DOI:10.1186/s13195-021-00912-6. PMID:34663460. IF: 8,823
Xu J, Green R, Kim M, Lord J, Ebshiana A, Westwood S, Baird AL, Nevado AJ, Shi L, Hye A, Snowden SG, Bos I, Vos SJB, Vandenberghe R, Teunissen CE, Kate MT, Scheltens P, Gabel S, Meersmans K, Blin O, Richardson J, De Roeck EE, Engelborghs S, Sleegers K, Bordet R, Rami L, Kettunen P, Tsolaki M, Verhey FRJ, Alcolea D, Lleo A, Peyratout G, et al. Sex-Specific Metabolic Pathways Were Associated with Alzheimer’s Disease (AD) Endophenotypes in the European Medical Information Framework for AD Multimodal Biomarker Discovery Cohort. Biomedicines. 2021; 9(11):1610. DOI:10.3390/biomedicines9111610. PMID:34829839. IF: 4,757
Younes K, Rojas JC, Wolf A, Sheng GM, Paoletti M, Toller G, Caverzasi E, Mandelli ML, Illan I, Kramer JH, Cobigo Y, Miller BL, Rosen HJ, Geschwind MD. Selective vulnerability to atrophy in sporadic Creutzfeldt-Jakob disease. Annals of Clinical and Translational Neurology. 2021; 8(6). DOI:10.1002/acn3.51290. PMID:33949799. IF: 5,430
Zhu N, Santos M, Illan I, Montal V, Estelles T, Barroeta I, Altuna M, Arranz J, Munoz L, Belbin O, Sala I, Sanchez MB, Subirana A, Videla L, Pegueroles J, Blesa R, Clarimon J, Carmona M, Fortea J, Lleo A, Alcolea D. Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia. Translational Neurodegeneration. 2021; 10(1):50. DOI:10.1186/s40035-021-00275-w. PMID:34893073. IF: 9,883

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