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01/11/2021 European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision

Van den Bergh, PYK, van Doorn, PA, Hadden, RDM, Avau, B, Vankrunkelsven, P, Allen, JA, Attarian, S, Blomkwist-Markens, PH, Cornblath, DR, Eftimov, F, Goedee, HS, Harbo, T, Kuwabara, S, Lewis, RA, Lunn, MP, Nobile-Orazio, E, Querol, L, Rajabally, YA, Sommer, C, Topaloglu, HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(11)DOI:10.1111/ene.14959. PMID:. IF:6.288(Q1/2D).

01/11/2021 Fifteen years of enzyme therapy in Pompe disease

Diaz-Manera, J. Fifteen years of enzyme therapy in Pompe disease. REVISTA DE NEUROLOGIA. 2021; 73(9)DOI:10.33588/rn.7309.2021382. PMID:34676531. IF:1.235(Q4/10D).

01/11/2021 Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study

Luijten, LWG, Leonhard, SE, van der Eijk, AA, Doets, AY, Appeltshauser, L, Arends, S, Attarian, S, Benedetti, L, Briani, C, Casasnovas, C, Castellani, F, Dardiotis, E, Echaniz-Laguna, A, Garssen, MPJ, Harbo, T, Huizinga, R, Humm, AM, Jellema, K, van der Kooi, AJ, Kuitwaard, K, Kuntzer, T, Kusunoki, S, Lascano, AM, Martinez-Hernandez, E, Rinaldi, S, Samijn, JPA, Scheidegger, O, Tsouni, P, Vicino, A, Visser, LH, Walgaard, C, Wang, YZ, Wirtz, PW, Ripellino, P, Jacobs, BC, Martín-Aguilar L, Zivkovic, Sasa A.. Guillain-Barre syndrome after SARS-CoV-2 infection in an international prospective cohort study. BRAIN. 2021; 144(11)DOI:10.1093/brain/awab279. PMID:34553216. IF:15.255(Q1/1D).

02/10/2021 Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Dominguez-Gonzalez, C, Madruga-Garrido, M, Hirano, M, Marti, I, Martin, MA, Munell, F, Nascimento, A, Olive, M, Quan, J, Sardina, MD, Marti, R, Paradas, C. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases. 2021; 16(1)DOI:10.1186/s13023-021-02030-w. PMID:34600563. IF:4.302(Q2/4D).

01/10/2021 Autoimmune nodopathies: treatable neuropathies beyond traditional classifications comment

Querol, L. Autoimmune nodopathies: treatable neuropathies beyond traditional classifications comment. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2021; 92(10)DOI:10.1136/jnnp-2021-326676. PMID:34400541. IF:13.654(Q1/1D).

01/10/2021 Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP

Querol, L, Lleixa, C. Novel Immunological and Therapeutic Insights in Guillain-Barre Syndrome and CIDP. Neurotherapeutics. 2021; 18(4)DOI:10.1007/s13311-021-01117-3. PMID:34549385. IF:6.088(Q1/2D).

01/10/2021 The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

Bellusci, M, Paredes-Fuentes, AJ, Ruiz-Pesini, E, Gomez, B, Martin, MA, Montoya, J, Artuch, R, Grp, Díaz-Manera J., Gallardo, E. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes. 2021; 12(10)DOI:10.3390/genes12101590. PMID:34680984. IF:4.141(Q2/5D).

15/09/2021 Comment to "Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis"

Cortes-Vicente, E, Alvarez-Velasco, R, Illa, I, Gallardo, E. Comment to "Autoantibodies to cortactin and agrin in sera of patients with myasthenia gravis". JOURNAL OF NEUROIMMUNOLOGY. 2021; 358DOI:10.1016/j.jneuroim.2021.577659. PMID:34273889. IF:3.221(Q3/7D).

01/09/2021 TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands

Guglieri, M, Diaz-Manera, J, Straub, V. TREAT-NMD stakeholder meeting for natural history studies in limb girdle muscular dystrophy 18th June 2019, Amsterdam, The Netherlands. NEUROMUSCULAR DISORDERS. 2021; 31(9)DOI:10.1016/j.nmd.2021.06.011. PMID:34426054. IF:3.538(Q2/5D).

01/09/2021 Serum Contactin-1 in CIDP A Cross-Sectional Study

Wieske, L, Martin-Aguilar, L, Fehmi, J, Lleixa, C, Koel-Simmelink, MJA, Chatterjee, M, van Lierop, Z, Killestein, J, Verhamme, C, Querol, L, Rinaldi, S, Teunissen, CE, Eftimov, F. Serum Contactin-1 in CIDP A Cross-Sectional Study. Neurology-Neuroimmunology & Neuroinflammation. 2021; 8(5)DOI:10.1212/NXI.0000000000001040. PMID:34285092. IF:11.360(Q1/1D).

01/09/2021 European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision

Van den Bergh, PYK, van Doorn, PA, Hadden, RDM, Avau, B, Vankrunkelsven, P, Allen, JA, Attarian, S, Blomkwist-Markens, PH, Cornblath, DR, Eftimov, F, Goedee, HS, Harbo, T, Kuwabara, S, Lewis, RA, Lunn, MP, Nobile-Orazio, E, Querol, L, Rajabally, YA, Sommer, C, Topaloglu, HA. European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. 2021; 26(3)DOI:10.1111/jns.12455. PMID:34085743. IF:5.188(Q2/3D).

01/09/2021 Charcot-Marie-Tooth disease due to MORC2 mutations in Spain

Sivera, R, Lupo, V, Frasquet, M, Argente-Escrig, H, Alonso-Perez, J, Diaz-Manera, J, Querol, L, Garcia-Romero, MD, Pascual, SI, Garcia-Sobrino, T, Paradas, C, Vazquez-Costa, JF, Muelas, N, Millet, E, Vilchez, JJ, Espinos, C, Sevilla, T. Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. EUROPEAN JOURNAL OF NEUROLOGY. 2021; 28(9)DOI:10.1111/ene.15001. PMID:34189813. IF:6.288(Q1/2D).

01/08/2021 Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

Alonso-Perez, J, Casasus, A, Gimenez-Munoz, A, Duff, J, Rojas-Garcia, R, Illa, I, Straub, V, Topf, A, Diaz-Manera, J. Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering. NEUROMUSCULAR DISORDERS. 2021; 31(8)DOI:10.1016/j.nmd.2021.04.011. PMID:34210542. IF:3.538(Q2/5D).

29/07/2021 Quantifying the patient ' s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire

Meca-Lallana, JE, Maurino, J, Perez-Miralles, F, Forero, L, Sepulveda, M, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Prefasi, D, Gomez-Ballesteros, R, Ballesteros, J. Quantifying the patient ' s perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire. PLoS One. 2021; 16(7)DOI:10.1371/journal.pone.0255317. PMID:34324586. IF:3.752(Q2/4D).

13/07/2021 Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests (vol 12, 634766, 2021)

Nunez-Peralta, C, Montesinos, P, Alonso-Jimenez, A, Alonso-Perez, J, Reyes-Leiva, D, Sanchez-Gonzalez, J, Llauger-Rosello, J, Segovia, S, Belmonte, I, Pedrosa, I, Martinez-Noguera, A, Matellini-Mosca, B, Walter, G, Diaz-Manera, J. Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests (vol 12, 634766, 2021). Frontiers in Neurology. 2021; 12DOI:10.3389/fneur.2021.727020. PMID:34326809. IF:4.086(Q2/5D).

03/07/2021 Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice

Allen, JA, Eftimov, F, Querol, L. Outcome measures and biomarkers in chronic inflammatory demyelinating polyradiculoneuropathy: from research to clinical practice. Expert Review of Neurotherapeutics. 2021; 21(7)DOI:10.1080/14737175.2021.1944104. PMID:34130574. IF:4.287(Q2/4D).

01/07/2021 STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Gutschmidt, K, Musumeci, O, Diaz-Manera, J, Chien, YH, Knop, KC, Wenninger, S, Montagnese, F, Pugliese, A, Tavilla, G, Alonso-Perez, J, Hwu, PWL, Toscano, A, Schoser, B. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. JOURNAL OF NEUROLOGY. 2021; 268(7)DOI:10.1007/s00415-021-10409-9. PMID:33543425. IF:6.682(Q1/2D).

01/07/2021 Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation

Conde-Blanco, E, Reyes-Leiva, D, Pintor, L, Donaire, A, Manzanares, I, Rumia, J, Roldan, P, Boget, T, Bargallo, N, Gil-Lopez, FJ, Khawaja, M, Setoain, X, Centeno, M, Carreno, M. Psychotic symptoms in drug resistant epilepsy patients after cortical stimulation. EPILEPSY RESEARCH. 2021; 173DOI:10.1016/j.eplepsyres.2021.106630. PMID:33865048. IF:2.991(Q3/7D).

01/07/2023 The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis

Artola, M, Hernando, A, Vidal, O, Vidal, N, Cuenca, E, Horno, R, Robles, MA, Oriol, C, Peralta, S, Solana, MAJ, Rubio, M, Montero, C, Lleixa, M, Zabay, C, Martin, M, Leon, I, Molinos, C, Matamoros, M, Mercade, L, Fornali, O, Montero, L, Saiz, A, Sola-Valls, N. The role of specialist nurses in detecting spasticity and related symptoms in multiple sclerosis. JOURNAL OF CLINICAL NURSING. 2023; 32(13-14)DOI:10.1111/jocn.16421. PMID:35799407. IF:3.200(Q1/1D).

01/01/2023 Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Weihl C.C., Topf, A, Bengoechea R., Duff J., Charlton R., Garcia S.K., Domínguez-González C., Alsaman A., Hernández-Laín A., Franco L.V., Sanchez, MEP, Beecroft S.J., Goullee H., Daw J., Bhadra A., True H., Inoue M., Findlay A.R., Laing N., Olivé M., Ravenscroft G., Straub V.. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. ACTA NEUROPATHOLOGICA. 2023; 145(1)DOI:10.1007/s00401-022-02510-8. PMID:36264506. IF:9.300(Q1/1D).

13/12/2022 Mutation update for the ACTN2 gene

Ranta-aho, J, Olive, M, Vandroux, M, Roticiani, G, Dominguez, C, Johari, M, Torella, A, Bohm, J, Turon, J, Nigro, V, Hackman, P, Laporte, J, Udd, B, Savarese, M. Mutation update for the ACTN2 gene. HUMAN MUTATION. 2022; 43(12)DOI:10.1002/humu.24470. PMID:36116040. IF:3.900(Q2/3D).

01/12/2022 Water T2 could predict functional decline in patients with dysferlinopathy

Moore, U, Araujo, ECD, Reyngoudt, H, Gordish-Dressman, H, Smith, FE, Wilson, I, James, M, Mayhew, A, Rufibach, L, Day, JW, Jones, KJ, Bharucha-Goebel, DX, Salort-Campana, E, Pestronk, A, Walter, MC, Paradas, C, Stojkovic, T, Mori-Yoshimura, M, Bravver, E, Pegoraro, E, Mendell, JR, Bushby, K, Blamire, AM, Straub, V, Carlier, PG, Diaz-Manera, J. Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(6)DOI:10.1002/jcsm.13063. PMID:36058852. IF:8.900(Q1/1D).

01/11/2022 Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion

Poyatos-Garcia, J, Marti, P, Liquori, A, Muelas, N, Pitarch, I, Martinez-Dolz, L, Rodriguez, B, Gonzalez-Quereda, L, Damia, M, Aller, E, Selva-Gimenez, M, Vilchez, R, Diaz-Manera, J, Alonso-Perez, J, Barcena, JE, Jauregui, A, Gamez, J, Aladren, JA, Fernandez, A, Montolio, M, Azorin, I, Hervas, D, Casasus, A, Nieto, M, Gallano, P, Sevilla, T, Vilchez, JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5)DOI:10.1002/ana.26461. PMID:35897138. IF:11.200(Q1/1D).

11/10/2022 Muscle MRI in McArdle Disease A European Multicenter Observational Study

Lokken, N, Revsbech, KL, Jacobsen, LN, Martinuzzi, A, Martin, MA, Diaz-Manera, J, Dominguez-Gonzalez, C, Brondani, G, Musumeci, O, Granata, F, Stefan, C, Merino-Sanchez, C, Peralta, CN, Khawajazada, T, Alonso-Perez, J, Toscano, A, Vissing, J. Muscle MRI in McArdle Disease A European Multicenter Observational Study. NEUROLOGY. 2022; 99(15)DOI:10.1212/WNL.0000000000200914. PMID:35853747. IF:9.900(Q1/1D).

01/10/2022 Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Schiava, M, Ikenaga, C, Villar-Quiles, RN, Caballero-Avila, M, Topf, A, Nishino, I, Kimonis, V, Udd, B, Schoser, B, Zanoteli, E, Souza, PVS, Tasca, G, Lloyd, T, Lopez-de Munain, A, Paradas, C, Pegoraro, E, Nadaj-Pakleza, A, De Bleecker, J, Badrising, U, Alonso-Jimenez, A, Kostera-Pruszczyk, A, Miralles, F, Shin, JH, Bevilacqua, JA, Olive, M, Vorgerd, M, Kley, R, Brady, S, Williams, T, Dominguez-Gonzalez, C, Papadimas, GK, Warman, J, Claeys, KG, de Visser, M, Muelas, N, LaForet, P, Malfatti, E, Alfano, LN, Nair, SS, Manousakis, G, Kushlaf, HA, Harms, MB, Nance, C, Ramos-Fransi, A, Rodolico, C, Hewamadduma, C, Cetin, H, Garcia-Garcia, J, Pal, E, Farrugia, ME, Lamont, PJ, Quinn, C, Nedkova-Hristova, V, Peric, S, Luo, SS, Oldfors, A, Taylor, K, Ralston, S, Stojkovic, T, Weihl, C, Diaz-Manera, J. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2022; 93(10)DOI:10.1136/jnnp-2022-328921. PMID:35896379. IF:11.000(Q1/1D).

01/10/2022 Autoimmune nodopathies, an emerging diagnostic category

Martin-Aguilar, L, Lleixa, C, Pascual-Goni, E. Autoimmune nodopathies, an emerging diagnostic category. CURRENT OPINION IN NEUROLOGY. 2022; 35(5)DOI:10.1097/WCO.0000000000001107. PMID:35989582. IF:4.800(Q1/3D).

20/09/2022 An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort

Leonhard, SE, van der Eijk, AA, Andersen, H, Antonini, G, Arends, S, Attarian, S, Barroso, FA, Bateman, KJ, Batstra, MR, Benedetti, L, van den Berg, B, Van den Bergh, P, Burmann, J, Busby, M, Casasnovas, C, Cornblath, DR, Davidson, A, Doets, AY, van Doorn, PA, de la Cour, CD, Feasby, TE, Fehmi, J, Garcia-Sobrino, T, Goldstein, JM, Gorson, KC, Granit, V, Hadden, RDM, Harbo, T, Hartung, HP, Hasan, I, Holbech, JV, Holt, JKL, Jahan, I, Islam, Z, Karafiath, S, Katzberg, HD, Kleyweg, RP, Kolb, N, Kuitwaard, K, Kuwahara, M, Kusunoki, S, Luijten, LWG, Kuwabara, S, Pan, EL, Lehmann, HC, Maas, M, Martin-Aguilar, L, Al Miller, J, Mohammad, QD, Monges, S, Nedkova-Hristova, V, Nobile-Orazio, E, Pardo, J, Pereon, Y, Querol, L, Reisin, R, Van Rijs, W, Rinaldi, S, Roberts, RC, Roodbol, J, Shahrizaila, N, Sindrup, SH, Stein, B, Cheng-Yin, T, Tankisi, H, Tio-Gillen, AP, Tous, MJS, Verboon, C, Vermeij, FH, Visser, LH, Huizinga, R, Willison, HJ, Jacobs, BC. An International Perspective on Preceding Infections in Guillain-Barre Syndrome The IGOS-1000 Cohort. NEUROLOGY. 2022; 99(12)DOI:10.1212/WNL.0000000000200885. PMID:35981895. IF:9.900(Q1/1D).

01/09/2022 Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study

Meca-Lallana, JE, Gomez-Ballesteros, R, Perez-Miralles, F, Forero, L, Sepulveda, M, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Prefasi, D, Maurino, J. Impact of Neuromyelitis Optica Spectrum Disorder on Quality of Life from the Patients' Perspective: An Observational Cross-Sectional Study. Neurology and Therapy. 2022; 11(3)DOI:10.1007/s40120-022-00356-6. PMID:35524037. IF:3.700(Q2/4D).

01/09/2022 IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy

Jentzer, A, Attal, A, Roue, C, Raymond, J, Lleixa, C, Illa, I, Querol, L, Taieb, G, Devaux, J. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(5)DOI:10.1212/NXI.0000000000200014. PMID:35948442. IF:8.800(Q1/1D).

01/09/2022 Gadolinium-enhanced brain lesions in multiple sclerosis relapse

Martin-Aguilar, L, Presas-Rodriguez, S, Rovira, A, Capellades, J, Massuet-Vilamajo, A, Ramio-Torrenta, L, Tintore, M, Brieva-Ruiz, L, Moral, E, Cano-Orgaz, A, Blanco, Y, Batlle-Nadal, J, Carmona, O, Gea, M, Hervas-Garcia, JV, Ramo-Tello, C. Gadolinium-enhanced brain lesions in multiple sclerosis relapse. NEUROLOGIA. 2022; 37(7)DOI:10.1016/j.nrl.2021.10.005. PMID:36064284. IF:3.900(Q2/4D).

16/08/2022 The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates

Silva, AMS, Rodrigo, P, Moreno, CAM, Mendonca, RD, Estephan, ED, Camelo, CG, Campos, ED, Dias, AT, Nascimento, AM, Kulikowski, LD, Oliveira, ASB, Reed, UC, Goldfarb, LG, Olive, M, Zanoteli, E. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 2022; 81(9)DOI:10.1093/jnen/nlac063. PMID:35898174. IF:3.200(Q2/5D).

01/07/2022 Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy

Statland, JM, Campbell, C, Desai, U, Karam, C, Diaz-Manera, J, Guptill, JT, Korngut, L, Genge, A, Tawil, RN, Elman, L, Joyce, NC, Wagner, KR, Manousakis, G, Amato, AA, Butterfield, RJ, Shieh, PB, Wicklund, M, Gamez, J, Bodkin, C, Pestronk, A, Weihl, CC, Vilchez-Padilla, JJ, Johnson, NE, Mathews, KD, Miller, B, Leneus, A, Fowler, M, van de Rijn, M, Attie, KM. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. MUSCLE & NERVE. 2022; 66(1)DOI:10.1002/mus.27558. PMID:35428982. IF:3.400(Q2/5D).

01/07/2022 Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis

Reyes-Leiva, D, Lopez-Contreras, J, Moga, E, Pla-Junca, F, Lynton-Pons, E, Rojas-Garcia, R, Turon-Sans, J, Querol, L, Olive, M, Alvarez-Velasco, R, Caballero-Avila, M, Carbayo, A, Vesperinas-Castro, A, Domingo, P, Illa, I, Gallardo, E, Cortes-Vicente, E. Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis. Neurology-Neuroimmunology & Neuroinflammation. 2022; 9(4)DOI:10.1212/NXI.0000000000200002. PMID:35728947. IF:8.800(Q1/1D).

01/06/2022 Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

Reyngoudt, H, Smith, FE, Araujo, ECD, Wilson, I, Fernandez-Torron, R, James, MK, Moore, UR, Diaz-Manera, J, Marty, B, Azzabou, N, Gordish, H, Rufibach, L, Hodgson, T, Wallace, D, Ward, L, Boisserie, JM, Le Louer, J, Hilsden, H, Sutherland, H, Canal, A, Hogrel, JY, Jacobs, M, Stojkovic, T, Bushby, K, Mayhew, A, Straub, V, Carlier, PG, Blamire, AM. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. Journal of Cachexia Sarcopenia and Muscle. 2022; 13(3)DOI:10.1002/jcsm.12987. PMID:35373496. IF:8.900(Q1/1D).

01/06/2022 An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

Koehorst, E, Odria, R, Capo, J, Nunez-Manchon, J, Arbex, A, Almendrote, M, Linares-Pardo, I, Natera-de Benito, D, Saez, V, Nascimento, A, Ortez, C, Rubio, MA, Diaz-Manera, J, Alonso-Perez, J, Lucente, G, Rodriguez-Palmero, A, Ramos-Fransi, A, Martinez-Pineiro, A, Nogales-Gadea, G, Suelves, M. An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation. Biomedicines. 2022; 10(6)DOI:10.3390/biomedicines10061372. PMID:35740394. IF:4.700(Q1/3D).

01/05/2022 Cognitive Performance and Health-Related Quality of Life in Patients with Neuromyelitis Optica Spectrum Disorder

Lopez-Soley, E, Meca-Lallana, JE, Llufriu, S, Blanco, Y, Gomez-Ballesteros, R, Maurino, J, Perez-Miralles, F, Forero, L, Calles, C, Martinez-Gines, ML, Gonzalez-Suarez, I, Boyero, S, Romero-Pinel, L, Sempere, AP, Meca-Lallana, V, Querol, L, Costa-Frossard, L, Sepulveda, M, Solana, E. Cognitive Performance and Health-Related Quality of Life in Patients with Neuromyelitis Optica Spectrum Disorder. Journal of Personalized Medicine. 2022; 12(5)DOI:10.3390/jpm12050743. PMID:35629165. IF:3.508(Q2/4D).

05/04/2022 Neurofilament Light Chain Levels in Anti-NMDAR Encephalitis and Primary Psychiatric Psychosis

Guasp, M, Martin-Aguilar, L, Sabater, L, Bioque, M, Armangue, T, Martinez-Hernandez, E, Landa, J, Maudes, E, Borras, R, Munoz-Lopetegi, A, Saiz, A, Castro-Fornieles, J, Graus, F, Parellada, E, Querol, L, Dalmau, J. Neurofilament Light Chain Levels in Anti-NMDAR Encephalitis and Primary Psychiatric Psychosis. NEUROLOGY. 2022; 98(14)DOI:10.1212/WNL.0000000000200021. PMID:35145006. IF:9.900(Q1/1D).

01/12/2024 A nationwide Guillain-Barré syndrome epidemiological study in Spain during the COVID-19 years

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13/11/2024 Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease

Kishnani, PS, Byrne, BJ, Claeys, KG, Díaz-Manera, J, Dimachkie, MM, Kushlaf, H, Mozaffar, T, Roberts, M, Schoser, B, Hummel, N, Kopiec, A, Holdbrook, F, Shohet, S, Toscano, A. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. Journal Of Patient-Reported Outcomes. 2024; 8(1)DOI:10.1186/s41687-024-00805-w. PMID:39535661. IF:(Q/D).

01/11/2024 Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis

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