DAVID GENÍS BATLLE

Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Brain, 2025, 148, 1258-1270 dx.doi.org/10.1093/brain/awae312

Trastorns del neurodesenvolupament , Neurodegeneració i Neuroinflamació

Genís, D, Alemany, B, Pellerin, D, Brais, B, Dicaire, MJ, Volpini, V, Campos, B, Corral, J, Gardenyes, J, de Jorge, L, San Nicolás, H, Buxó, M, Sancho, JM, Obon, M, Roig, C, Rodriguez-Revenga, L, Alvarez-Mora, MI, Danzi, MC, Houlden, H, Zuchner, S, Márquez, F, Torrenta, LRI

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

JOURNAL OF NEUROLOGY, 2025, 272, 235-235 dx.doi.org/10.1007/s00415-025-12964-x

Neurodegeneració i Neuroinflamació

Alemany-Perna, B, Tamarit, J, Cabiscol, E, Delaspre, F, Miguela, A, Huertas-Pons, JM, Quiroga-Varela, A, Ruiz, MM, Dominguez, DL, Torrenta, L, Genis, D, Ros, J

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

MOVEMENT DISORDERS, 2024, 39, 1099-1108 dx.doi.org/10.1002/mds.29808

Neurodegeneració i Neuroinflamació

Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388, 128-141 dx.doi.org/10.1056/NEJMoa2207406

Neurodegeneració i Neuroinflamació , Trastorns del neurodesenvolupament

Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Neurology, 2018, 91, 1988-1998 dx.doi.org/10.1212/WNL.0000000000006550

Neurodegeneració i Neuroinflamació

Vilas D, Sharp M, Gelpi E, Genís D, Marder KS, Cortes E, Vonsattel JP, Tolosa E, Alcalay RN

Clinical and Neuropathological Features of Progressive Supranuclear Palsy in Leucine rich repeat kinase (<i>LRRK2</i>) G2019S Mutation Carriers

MOVEMENT DISORDERS, 2018, 33, 335-338 dx.doi.org/10.1002/mds.27225

Patologia Cerebrovascular , Imatge Mèdica , Neurodegeneració i Neuroinflamació

Gich J, Freixenet J, Garcia R, Vilanova JC, Genís D, Silva Y, Montalban X, Ramió-Torrentà L

A new cognitive rehabilitation programme for patients with multiple sclerosis: the 'MS-line! Project'.

MULTIPLE SCLEROSIS JOURNAL, 2015, 21, 1344-1348 dx.doi.org/10.1177/1352458514561905

Neurodegeneració i Neuroinflamació

Calvó-Perxas L, López-Pousa S, Vilalta-Franch J, Turró-Garriga O, Blankenburg M, Febrer L, Flaqué M, Vallmajó N, Aguirregomozcorta M, Genís D, Casas I, Perkal H, Coromina J, Garre-Olmo J

Central nervous system drug consumption depending on the time between symptom onset and the diagnosis of Alzheimer's disease: an analysis by the Registry of Dementias of Girona.

DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33, 104-110 dx.doi.org/10.1159/000337340

Neurodegeneració i Neuroinflamació

Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Cerebellum, 2012, 11, 488-504 dx.doi.org/10.1007/s12311-011-0316-8

Patologia Cerebrovascular , Neurodegeneració i Neuroinflamació

Calvo-Perxas L, Osuna MT, Gich J, Eligio-Hernandez E, Linares M, Vinas M, Casas I, Turro-Garriga O, Lopez-Pousa S, Garre-Olmo J

Caracteristicas clinicas y demograficas de los casos de demencia diagnosticados en la Region Sanitaria de Girona durante el periodo 2007-2010: datos del Registro de Demencias de Girona (ReDeGi).

REVISTA DE NEUROLOGIA, 2012, 54, 399-406 dx.doi.org/10.33588/rn.5407.2011413

Directori

Publicacions

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients

Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Clinical and Neuropathological Features of Progressive Supranuclear Palsy in Leucine rich repeat kinase (<i>LRRK2</i>) G2019S Mutation Carriers

A new cognitive rehabilitation programme for patients with multiple sclerosis: the 'MS-line! Project'.

Central nervous system drug consumption depending on the time between symptom onset and the diagnosis of Alzheimer's disease: an analysis by the Registry of Dementias of Girona.

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Caracteristicas clinicas y demograficas de los casos de demencia diagnosticados en la Region Sanitaria de Girona durante el periodo 2007-2010: datos del Registro de Demencias de Girona (ReDeGi).

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