Genètica en Malalties Neurodegeneratives

Baradaran-Heravi Y., Dillen L., Nguyen H.P., Van Mossevelde S., Baets J., De Jonghe P., Engelborghs S., De Deyn P.P., Vandenbulcke M., Vandenberghe R., Van Damme P., Cras P., Salmon E., Synofzik M., Heutink P., Wilke C., Simon-Sanchez J., Rojas-Garcia R., Turon-Sans J., Lleo A., Illan-Gala I., Clarimon J., Borroni B., Padovani A., Pastor P., Diez-Fairen M., Aguilar M., Gelpi E., Sanchez-Valle R., Borrego-Ecija S., Matej R., Parobkova E., Nacmias B., Sorbi S., Bagnoli S., de Mendonca A., Ferreira C., Fraidakis M.J., Diehl-Schmid J., Alexopoulos P., Almeida M.R., Santana I., Van Broeckhoven C., van der Zee J., Goeman J., Nuytten D., Sieben A., De Bleecker J.L., Santens P., Versijpt J., Michotte A., Ivanoiu A., Deryck O., Bergmans B., Willems C., De Klippel N., Peeters D., Archettim S., Bonomi E., Piaceri I., Ferrari C., Simoes do Couto F., Verdelho A., Miltenberger-Miltenyi G. (2018) No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients. NEUROBIOL AGING, 69 (), 293.e9-293.e11.
IF: 4,3980

Bonham L.W., Karch C.M., Fan C.C., Tan C., Geier E.G., Wang Y., Wen N., Broce I.J., Li Y., Barkovich M.J., Ferrari R., Hardy J., Momeni P., Hoglinger G., Muller U., Hess C.P., Sugrue L.P., Dillon W.P., Schellenberg G.D., Miller B.L., Andreassen O.A., Dale A.M., Barkovich A.J., Yokoyama J.S., Desikan R.S., Hernandez D.G., Nalls M.A., Rohrer J.D., Ramasamy A., Kwok J.B.J., Dobson-Stone C., Schofield P.R., Halliday G.M., Hodges J.R., Piguet O., Bartley L., Thompson E., Haan E., Hernandez I., Ruiz A., Boada M., Borroni B., Padovani A., Cruchaga C., Cairns N.J., Benussi L., Binetti G., Ghidoni R., Forloni G., Albani D., Galimberti D., Fenoglio C., Serpente M., Scarpini E., Clarimon J., Lleo A., Blesa R., Waldo M.L., Nilsson K., Nilsson C., MacKenzie I.R.A., Hsiung G.-Y.R., Mann D.M.A., Grafman J., Morris C.M., Attems J., Griffiths T.D., McKeith I.G., Thomas A.J., Pietrini P., Huey E.D., Wassermann E.M., Baborie A., Jaros E., Tierney M.C., Pastor P., Razquin C., Ortega-Cubero S., Alonso E., Perneczky R., Diehl-Schmid J., Alexopoulos P., Kurz A., Rainero I., Rubino E., Pinessi L., Rogaeva E., George-Hyslop P.S., Rossi G., Tagliavini F., Giaccone G., Rowe J.B., Schlachetzki J.C.M., Uphill J., Collinge J., Mead S., Danek A., Van Deerlin V.M., Grossman M., Trojanowski J.Q., Van Der Zee J., Cruts M., Van Broeckhoven C., Cappa S.F., Leber I., Hannequin D., Golfier V., Vercelletto M., Brice A., Nacmias B., Sorbi S., Bagnoli S., Piaceri I., Nielsen J.E., Hjermind L.E., Riemenschneider M., Mayhaus M., Ibach B., Gasparoni G., Pichler S., Gu W., Rossor M.N., Fox N.C., Warren J.D., Spillantini M.G., Morris H.R., Rizzu P., Heutink P., Snowden J.S., Rollinson S., Richardson A., Gerhard A., Bruni A.C., Maletta R., Frangipane F., Cupidi C., Bernardi L., Anfossi M., Gallo M., Conidi M.E., Smirne N., Rademakers R., Baker M., Dickson D.W., Graff-Radford N.R., Petersen R.C., Knopman D., Josephs K.A., Boeve B.F., Parisi J.E., Seeley W.W., Karydas A.M., Rosen H., Van Swieten J.C., Dopper E.G.P., Seelaar H., Pijnenburg Y.A.L., Scheltens P., Logroscino G., Capozzo R., Novelli V., Puca A.A., Franceschi M., Postiglione A., Milan G., Sorrentino P., Kristiansen M., Chiang H.-H., Graff C., Pasquier F., Rollin A., Deramecourt V., Lebouvier T., Kapogiannis D., Ferrucci L., Pickering-Brown S., Singleton A.B. (2018) CXCR4 involvement in neurodegenerative diseases. TRANSL PSYCHIAT, 8 (1), -.
IF: 5,1820

Cortes-Vicente E., Turon-Sans J., Gelpi E., Clarimon J., Borrego-Ecija S., Dols-Icardo O., Illan-Gala I., Lleo A., Illa I., Blesa R., Al-Chalabi A., Rojas-Garcia R. (2018) Distinct clinical features and outcomes in motor neuron disease associated with behavioural variant frontotemporal dementia. DEMENT GERIATR COGN, 45 (3-4), 220-231.
IF: 2,2600

Dols-Icardo O., Garcia-Redondo A., Rojas-Garcia R., Borrego-Hernandez D., Illan-Gala I., Munoz-Blanco J.L., Rabano A., Cervera-Carles L., Juarez-Rufian A., Spataro N., De Luna N., Galan L., Cortes-Vicente E., Fortea J., Blesa R., Grau-Rivera O., Lleo A., Esteban-Perez J., Gelpi E., Clarimon J. (2018) Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation. J NEUROL NEUROSUR PS, 89 (2), 162-168.
IF: 8,2720

Fortea J., Carmona-Iragui M., Benejam B., Fernandez S., Videla L., Barroeta I., Alcolea D., Pegueroles J., Munoz L., Belbin O., de Leon M.J., Maceski A.M., Hirtz C., Clarimon J., Videla S., Delaby C., Lehmann S., Blesa R., Lleo A. (2018) Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study. LANCET NEUROL, 17 (10), 860-869.
IF: 28,7550

Guerreiro R., Ross O.A., Kun-Rodrigues C., Hernandez D.G., Orme T., Eicher J.D., Shepherd C.E., Parkkinen L., Darwent L., Heckman M.G., Scholz S.W., Troncoso J.C., Pletnikova O., Ansorge O., Clarimon J., Lleo A., Morenas-Rodriguez E., Clark L., Honig L.S., Marder K., Lemstra A., Rogaeva E., St George-Hyslop P., Londos E., Zetterberg H., Barber I., Braae A., Brown K., Morgan K., Troakes C., Al-Sarraj S., Lashley T., Holton J., Compta Y., Van Deerlin V., Serrano G.E., Beach T.G., Lesage S., Galasko D., Masliah E., Santana I., Pastor P., Diez-Fairen M., Aguilar M., Tienari P.J., Myllykangas L., Oinas M., Revesz T., Lees A., Boeve B.F., Petersen R.C., Ferman T.J., Escott-Price V., Graff-Radford N., Cairns N.J., Morris J.C., Pickering-Brown S., Mann D., Halliday G.M., Hardy J., Trojanowski J.Q., Dickson D.W., Singleton A., Stone D.J., Bras J. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. LANCET NEUROL, 17 (1), 64-74.
IF: 28,7550

Montal V., Vilaplana E., Alcolea D., Pegueroles J., Pasternak O., Gonzalez-Ortiz S., Clarimon J., Carmona-Iragui M., Illan-Gala I., Morenas-Rodriguez E., Ribosa-Nogue R., Sala I., Sanchez-Saudinos M.-B., Garcia-Sebastian M., Villanua J., Izagirre A., Estanga A., Ecay-Torres M., Iriondo A., Clerigue M., Tainta M., Pozueta A., Gonzalez A., Martinez-Heras E., Llufriu S., Blesa R., Sanchez-Juan P., Martinez-Lage P., Lleo A., Fortea J. (2018) Cortical microstructural changes along the Alzheimer's disease continuum. ALZHEIMERS DEMENT, 14 (3), 340-351.
IF: 14,4230

Philtjens S., Van Mossevelde S., van der Zee J., Wauters E., Dillen L., Vandenbulcke M., Vandenberghe R., Ivanoiu A., Sieben A., Willems C., Benussi L., Ghidoni R., Binetti G., Borroni B., Padovani A., Pastor P., Diez-Fairen M., Aguilar M., de Mendonca A., Miltenberger-Miltenyi G., Hernandez I., Boada M., Ruiz A., Nacmias B., Sorbi S., Almeida M.R., Santana I., Clarimon J., Lleo A., Frisoni G.B., Sanchez-Valle R., Llado A., Gomez-Tortosa E., Gelpi E., Van den Broeck M., Peeters K., Cras P., De Deyn P.P., Engelborghs S., Cruts M., Van Broeckhoven C. (2018) Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia. NEUROBIOL AGING, 66 (), 181.e3-181.e10.
IF: 4,3980

Ramos De Matos M., Ferreira C., Herukka S.-K., Soininen H., Janeiro A., Santana I., Baldeiras I., Almeida M.R., Lleo A., Dols-Icardo O., Alcolea D., Benussi L., Binetti G., Paterlini A., Ghidoni R., Nacmias B., Meulenbroek O., Van Waalwijk Van Doorn L.J.C., Kuiperi H.B.J., Hausner L., Waldemar G., Simonsen A.H., Tsolaki M., Gkatzima O., Resende De Oliveira C., Verbeek M.M., Clarimon J., Hiltunen M., De Mendonca A., Martins M. (2018) Quantitative genetics validates previous genetic variants and identifies novel genetic players influencing Alzheimer's disease cerebrospinal fluid biomarkers. J ALZHEIMERS DIS, 66 (2), 639-652.
IF: 3,5170

Ramos-Campoy O., Avila-Polo R., Grau-Rivera O., Antonell A., Clarimon J., Rojas-Garcia R., Charif S., Santiago-Valera V., Hernandez I., Aguilar M., Almenar C., Lopez-Villegas D., Bajo L., Pastor P., Van Der Zee J., Llado A., Sanchez-Valle R., Gelpi E. (2018) Systematic screening of ubiquitin/p62 aggregates in cerebellar cortex expands the neuropathological phenotype of the C9orf72 Expansion Mutation. J NEUROPATH EXP NEUR, 77 (8), 703-709.
IF: 3,4600

Verheijen J., van der Zee J., Gijselinck I., Van den Bossche T., Dillen L., Heeman B., Gomez-Tortosa E., Llado A., Sanchez-Valle R., Graff C., Pastor P., Pastor M.A., Benussi L., Ghidoni R., Binetti G., Clarimon J., de Mendonca A., Gelpi E., Tsolaki M., Diehl-Schmid J., Nacmias B., Almeida M.R., Borroni B., Matej R., Ruiz A., Engelborghs S., Vandenberghe R., De Deyn P.P., Cruts M., Van Broeckhoven C., Sleegers K. (2018) Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort. NEUROBIOL AGING, 62 (), 245.e1-245.e7.
IF: 4,3980

Zhang M., Ferrari R., Tartaglia M.C., Keith J., Surace E.I., Wolf U., Sato C., Grinberg M., Liang Y., Xi Z., Dupont K., McGoldrick P., Weichert A., McKeever P.M., Schneider R., McCorkindale M.D., Manzoni C., Rademakers R., Graff-Radford N.R., Dickson D.W., Parisi J.E., Boeve B.F., Petersen R.C., Miller B.L., Seeley W.W., van Swieten J.C., van Rooij J., Pijnenburg Y., van der Zee J., Van Broeckhoven C., Le Ber I., Van Deerlin V., Suh E., Rohrer J.D., Mead S., Graff C., Oijerstedt L., Pickering-Brown S., Rollinson S., Rossi G., Tagliavini F., Brooks W.S., Dobson-Stone C., Halliday G.M., Hodges J.R., Piguet O., Binetti G., Benussi L., Ghidoni R., Nacmias B., Sorbi S., Bruni A.C., Galimberti D., Scarpini E., Rainero I., Rubino E., Clarimon J., Lleo A., Ruiz A., Hernandez I., Pastor P., Diez-Fairen M., Borroni B., Pasquier F., Deramecourt V., Lebouvier T., Perneczky R., Diehl-Schmid J., Grafman J., Huey E.D., Mayeux R., Nalls M.A., Hernandez D., Singleton A., Momeni P., Zeng Z., Hardy J., Robertson J., Zinman L., Rogaeva E. (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. BRAIN, 141 (10), 2895-2907.
IF: 11,8140

Alcolea D., Vilaplana E., Suarez-Calvet M., Illan-Gala I., Blesa R., Clarimon J., Llado A., Sanchez-Valle R., Molinuevo J.L., Garcia-Ribas G., Compta Y., Marti M.J., Pinol-Ripoll G., Amer-Ferrer G., Noguera A., Garcia-Martin A., Fortea J., Lleo A. (2017) CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration. NEUROLOGY, 89 (2), 178-188. IF: 7,5920

Carmona-Iragui M., Balasa M., Benejam B., Alcolea D., Fernandez S., Videla L., Sala I., Sanchez-Saudinos M.B., Morenas-Rodriguez E., Ribosa-Nogue R., Illan-Gala I., Gonzalez-Ortiz S., Clarimon J., Schmitt F., Powell D.K., Bosch B., Llado A., Rafii M.S., Head E., Molinuevo J.L., Blesa R., Videla S., Lleo A., Sanchez-Valle R., Fortea J. (2017) Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease. ALZHEIMERS DEMENT, 13 (11), 1251-1260. IF: 9,4780

Cervera-Carles L., Alcolea D., Estanga A., Ecay-Torres M., Izagirre A., Clerigue M., Garcia-Sebastian M., Villanua J., Escalas C., Blesa R., Martinez-Lage P., Lleo A., Fortea J., Clarimon J. (2017) Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum. NEUROBIOL AGING, 53 (), 192.e1-192.e4. IF: 5,1170

Colom-Cadena M., Grau-Rivera O., Planellas L., Cerquera C., Morenas E., Helgueta S., Munoz L., Kulisevsky J., Marti M.J., Tolosa E., Clarimon J., Lleo A., Gelpi E. (2017) Regional overlap of pathologies in lewy body disorders. J NEUROPATH EXP NEUR, 76 (3), 216-224. IF: 3,5030

Cortes-Vicente E., Pradas J., Marin-lahoz J., De Luna N., Clarimon J., Turon-Sans J., Gelpi E., Diaz-Manera J., Illa I., Rojas-Garcia R. (2017) Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria. AMYOTROPH LAT SCL FR, 18 (5-6), 333-340. IF: 3,0540

de Roeck A., van Den Bossche T., van der Zee J., Verheijen J., de Coster W., van Dongen J., Dillen L., Baradaran-Heravi Y., Heeman B., Sanchez-Valle R., Llado A., Nacmias B., Sorbi S., Gelpi E., Grau-Rivera O., Gomez-Tortosa E., Pastor P., Ortega-Cubero S., Pastor M.A., Graff C., Thonberg H., Benussi L., Ghidoni R., Binetti G., de Mendonca A., Martins M., Borroni B., Padovani A., Almeida M.R., Santana I., Diehl-Schmid J., Alexopoulos P., Clarimon J., Lleo A., Fortea J., Tsolaki M., Koutroumani M., Matej R., Rohan Z., de Deyn P., Engelborghs S., Cras P., van Broeckhoven C., Sleegers K., Bessi V., Bagnoli S., Do Couto F.S., Verdelho A., Fratiglioni L., Padovani A., Rohan Z., Razquin C., Lorenzo E., Iglesias E., Seijo-Martinez M., Rene R., Gascon J., Campdelacreu J., Blesa R. (2017) Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease. ACTA NEUROPATHOL, 134 (3), 475-487. IF: 12,2130

Kun-Rodrigues C., Ross O.A., Orme T., Shepherd C., Parkkinen L., Darwent L., Hernandez D., Ansorge O., Clark L.N., Honig L.S., Marder K., Lemstra A., Scheltens P., van der Flier W., Louwersheimer E., Holstege H., Rogaeva E., St. George-Hyslop P., Londos E., Zetterberg H., Barber I., Braae A., Brown K., Morgan K., Maetzler W., Berg D., Troakes C., Al-Sarraj S., Lashley T., Holton J., Compta Y., Van Deerlin V., Trojanowski J.Q., Serrano G.E., Beach T.G., Clarimon J., Lleo A., Morenas-Rodriguez E., Lesage S., Galasko D., Masliah E., Santana I., Diez M., Pastor P., Tienari P.J., Myllykangas L., Oinas M., Revesz T., Lees A., Boeve B.F., Petersen R.C., Ferman T.J., Escott-Price V., Graff-Radford N., Cairns N.J., Morris J.C., Stone D.J., Pickering-Brown S., Mann D., Dickson D.W., Halliday G.M., Singleton A., Guerreiro R., Bras J. (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. NEUROBIOL AGING, 49 (), 214.e13-214.e15. IF: 5,1170

Pegueroles J., Vilaplana E., Montal V., Sampedro F., Alcolea D., Carmona-Iragui M., Clarimon J., Blesa R., Lleo A., Fortea J. (2017) Longitudinal brain structural changes in preclinical Alzheimer's disease. ALZHEIMERS DEMENT, 13 (5), 499-509. IF: 9,4780

Querol-Vilaseca M., Colom-Cadena M., Pegueroles J., San Martin-Paniello C., Clarimon J., Belbin O., Fortea J., Lleo A. (2017) YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies. J NEUROINFLAMM, 14 (1), -. IF: 5,1020

Sala I., Illan-Gala I., Alcolea D., Sanchez-Saudinos M.B., Salgado S.A., Morenas-Rodriguez E., Subirana A., Videla L., Clarimon J., Carmona-Iragui M., Ribosa-Nogue R., Blesa R., Fortea J., Lleo A. (2017) Diagnostic and Prognostic Value of the Combination of Two Measures of Verbal Memory in Mild Cognitive Impairment due to Alzheimer's Disease. J ALZHEIMERS DIS, 58 (3), 909-918. IF: 3,7310

Sims R., Van Der Lee S.J., Naj A.C., Bellenguez C., Badarinarayan N., Jakobsdottir J., Kunkle B.W., Boland A., Raybould R., Bis J.C., Martin E.R., Grenier-Boley B., Heilmann-Heimbach S., Chouraki V., Kuzma A.B., Sleegers K., Vronskaya M., Ruiz A., Graham R.R., Olaso R., Hoffmann P., Grove M.L., Vardarajan B.N., Hiltunen M., Nothen M.M., White C.C., Hamilton-Nelson K.L., Epelbaum J., Maier W., Choi S.-H., Beecham G.W., Dulary C., Herms S., Smith A.V., Funk C.C., Derbois C., Forstner A.J., Ahmad S., Li H., Bacq D., Harold D., Satizabal C.L., Valladares O., Squassina A., Thomas R., Brody J.A., Qu L., Sanchez-Juan P., Morgan T., Wolters F.J., Zhao Y., Garcia F.S., Denning N., Fornage M., Malamon J., Naranjo M.C.D., Majounie E., Mosley T.H., Dombroski B., Wallon D., Lupton M.K., Dupuis J., Whitehead P., Fratiglioni L., Medway C., Jian X., Mukherjee S., Keller L., Brown K., Lin H., Cantwell L.B., Panza F., McGuinness B., Moreno-Grau S., Burgess J.D., Solfrizzi V., Proitsi P., Adams H.H., Allen M., Seripa D., Pastor P., Cupples L.A., Price N.D., Hannequin D., Frank-Garcia A., Levy D., Chakrabarty P., Caffarra P., Giegling I., Beiser A.S., Giedraitis V., Hampel H., Garcia M.E., Wang X., Lannfelt L., Mecocci P., Eiriksdottir G., Crane P.K., Pasquier F., Boccardi V., Henandez I., Barber R.C., Scherer M., Tarraga L., Adams P.M., Leber M., Chen Y., Albert M.S., Riedel-Heller S., Emilsson V., Beekly D., Braae A., Schmidt R., Blacker D., Masullo C., Schmidt H., Doody R.S., Spalletta G., Jr W.T.L., Fairchild T.J., Bossu P., Lopez O.L., Frosch M.P., Sacchinelli E., Ghetti B., Yang Q., Huebinger R.M., Jessen F., Li S., Kamboh M.I., Morris J., Sotolongo-Grau O., Katz M.J., Corcoran C., Dunstan M., Braddel A., Thomas C., Meggy A., Marshall R., Gerrish A., Chapman J., Aguilar M., Taylor S., Hill M., Fairen M.D., Hodges A., Vellas B., Soininen H., Kloszewska I., Daniilidou M., Uphill J., Patel Y., Hughes J.T., Lord J., Turton J., Hartmann A.M., Cecchetti R., Fenoglio C., Serpente M., Arcaro M., Caltagirone C., Orfei M.D., Ciaramella A., Pichler S., Mayhaus M., Gu W., Lleo A., Fortea J., Blesa R., Barber I.S., Brookes K., Cupidi C., Maletta R.G., Carrell D., Sorbi S., Moebus S., Urbano M., Pilotto A., Kornhuber J., Bosco P., Todd S., Craig D., Johnston J., Gill M., Lawlor B., Lynch A., Fox N.C., Hardy J., Albin R.L., Apostolova L.G., Arnold S.E., Asthana S., Atwood C.S., Baldwin C.T., Barnes L.L., Barral S., Beach T.G., Becker J.T., Bigio E.H., Bird T.D., Boeve B.F., Bowen J.D., Boxer A., Burke J.R., Burns J.M., Buxbaum J.D., Cairns N.J., Cao C., Carlson C.S., Carlsson C.M., Carney R.M., Carrasquillo M.M., Carroll S.L., Diaz C.C., Chui H.C., Clark D.G., Cribbs D.H., Crocco E.A., Decarli C., Dick M., Duara R., Evans D.A., Faber K.M., Fallon K.B., Fardo D.W., Farlow M.R., Ferris S., Foroud T.M., Galasko D.R., Gearing M., Geschwind D.H., Gilbert J.R., Graff-Radford N.R., Green R.C., Growdon J.H., Hamilton R.L., Harrell L.E., Honig L.S., Huentelman M.J., Hulette C.M., Hyman B.T., Jarvik G.P., Abner E., Jin L.-W., Jun G., Karydas A., Kaye J.A., Kim R., Kowall N.W., Kramer J.H., Laferla F.M., Lah J.J., Leverenz J.B., Levey A.I., Li G., Lieberman A.P., Lunetta K.L., Lyketsos C.G., Marson D.C., Martiniuk F., Mash D.C., Masliah E., McCormick W.C., McCurry S.M., McDavid A.N., McKee A.C., Mesulam M., Miller B.L., Miller C.A., Miller J.W., Morris J.C., Murrell J.R., Myers A.J., O'Bryant S., Olichney J.M., Pankratz V.S., Parisi J.E., Paulson H.L., Perry W., Peskind E., Pierce A., Poon W.W., Potter H., Quinn J.F., Raj A., Raskind M., Reisberg B., Reitz C., Ringman J.M., Roberson E.D., Rogaeva E., Rosen H.J., Rosenberg R.N., Sager M.A., Saykin A.J., Schneider J.A., Schneider L.S., Seeley W.W., Smith A.G., Sonnen J.A., Spina S., Stern R.A., Swerdlow R.H., Tanzi R.E., Thornton-Wells T.A., Trojanowski J.Q., Troncoso J.C., Van Deerlin V.M., Van Eldik L.J., Vinters H.V., Vonsattel J.P., Weintraub S., Welsh-Bohmer K.A., Wilhelmsen K.C., Williamson J., Wingo T.S., Woltjer R.L., Wright C.B., Yu C.-E., Yu L., Garzia F., Golamaully F., Septier G., Engelborghs S., Vandenberghe R., De Deyn P.P., Fernadez C.M., Benito Y.A., Thonberg H., Forsell C., Lilius L., Kinhult-Stahlbom A., Kilander L., Brundin R., Concari L., Helisalmi S., Koivisto A.M., Haapasalo A., Dermecourt V., Fievet N., Hanon O., Dufouil C., Brice A., Ritchie K., Dubois B., Himali J.J., Keene C.D., Tschanz J., Fitzpatrick A.L., Kukull W.A., Norton M., Aspelund T., Larson E.B., Munger R., Rotter J.I., Lipton R.B., Bullido M.J., Hofman A., Montine T.J., Coto E., Boerwinkle E., Petersen R.C., Alvarez V., Rivadeneira F., Reiman E.M., Gallo M., O'Donnell C.J., Reisch J.S., Bruni A.C., Royall D.R., Dichgans M., Sano M., Galimberti D., St George-Hyslop P., Scarpini E., Tsuang D.W., Mancuso M., Bonuccelli U., Winslow A.R., Daniele A., Wu C.-K., Peters O., Nacmias B., Riemenschneider M., Heun R., Brayne C., Rubinsztein D.C., Bras J., Guerreiro R., Al-Chalabi A., Shaw C.E., Collinge J., Mann D., Tsolaki M., Clarimon J., Sussams R., Lovestone S., O'Donovan M.C., Owen M.J., Behrens T.W., Mead S., Goate A.M., Uitterlinden A.G., Holmes C., Cruchaga C., Ingelsson M., Bennett D.A., Powell J., Golde T.E., Graff C., De Jager P.L., Morgan K., Ertekin-Taner N., Combarros O., Psaty B.M., Passmore P., Younkin S.G., Berr C., Gudnason V., Rujescu D., Dickson D.W., Dartigues J.-F., Destefano A.L., Ortega-Cubero S., Hakonarson H., Campion D., Boada M., Kauwe J.K., Farrer L.A., Van Broeckhoven C., Ikram M.A., Jones L., Haines J.L., Tzourio C., Launer L.J., Escott-Price V., Mayeux R., Deleuze J.-F., Amin N., Holmans P.A., Pericak-Vance M.A., Amouyel P., Van Duijn C.M., Ramirez A., Wang L.-S., Lambert J.-C., Seshadri S., Williams J., Schellenberg G.D., Clarimõn J. (2017) Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. NAT GENET, 49 (9), 1373-1384. IF: 27,9590

Spataro N., Roca-Umbert A., Cervera-Carles L., Valles M., Anglada R., Pagonabarraga J., Pascual-Sedano B., Campolongo A., Kulisevsky J., Casals F., Clarimon J., Bosch E. (2017) Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. MOVEMENT DISORD, 32 (1), 165-169. IF: 7,0720

Tell-Marti G., Puig-Butille J.A., Potrony M., Plana E., Badenas C., Antonell A., Sanchez-Valle R., Molinuevo J.L., Lleo A., Alcolea D., Fortea J., Fernandez-Santiago R., Clarimon J., Llado A., Puig S. (2017) A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk. J ALZHEIMERS DIS, 56 (3), 1065-1074. IF: 3,7310

van der Zee J., Gijselinck I., Van Mossevelde S., Perrone F., Dillen L., Heeman B., Baumer V., Engelborghs S., De Bleecker J., Baets J., Gelpi E., Rojas-Garcia R., Clarimon J., Lleo A., Diehl-Schmid J., Alexopoulos P., Perneczky R., Synofzik M., Just J., Schols L., Graff C., Thonberg H., Borroni B., Padovani A., Jordanova A., Sarafov S., Tournev I., de Mendonca A., Miltenberger-Miltenyi G., Simoes do Couto F., Ramirez A., Jessen F., Heneka M.T., Gomez-Tortosa E., Danek A., Cras P., Vandenberghe R., De Jonghe P., De Deyn P.P., Sleegers K., Cruts M., Van Broeckhoven C. (2017) TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. HUM MUTAT, 38 (3), 297-309. IF: 4,6010