DAVID GENÍS BATLLE

Projectes

Neurodegeneració i Neuroinflamació

Estudio piloto sobre los efectos del tratamiento con Calcitriol en la función neurológica y los niveles de Frataxina en pacientes con ataxia de Friedreich

Codi oficial: FA-calcitriol (ATAXIES) Data inici: 02/12/2020 Data fi: 30/06/2024 Investigador/a principal: BERTA ALEMANY PERNA Organisme finançador: FEDERACIÓN DE ATAXIAS DE ESPAÑA

Publicacions

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 (LRRK2) 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

Private: Envelliment, Discapacitat i Salut , 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

Neurodegeneració i Neuroinflamació

Kádár E, Lim LW, Carreras G, Genís D, Temel Y, Huguet G

High-frequency stimulation of the ventrolateral thalamus regulates gene expression in hippocampus, motor cortex and caudate-putamen.

BRAIN RESEARCH, 2011, 1391, 1-13 dx.doi.org/10.1016/j.brainres.2011.03.059

Neurodegeneració i Neuroinflamació

Serranová T, Valls-Solé J, Muñoz E, Genís D, Jech R, Seeman P

Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis.

NEUROSCIENCE LETTERS, 2008, 437, 15-19 dx.doi.org/10.1016/j.neulet.2008.03.068

Neurodegeneració i Neuroinflamació

Corral J, Genís D, Banchs I, San Nicolás H, Armstrong J, Volpini V

Giant SCA8 alleles in nine children whose mother has two moderately large ones.

ANNALS OF NEUROLOGY, 2005, 57, 549-553 dx.doi.org/10.1002/ana.20421

Neurodegeneració i Neuroinflamació

Martínez-Rodríguez JE, Lin L, Iranzo A, Genis D, Martí MJ, Santamaria J, Mignot E

Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness.

Sleep, 2003, 26, 287-290 dx.doi.org/10.1093/sleep/26.3.287

Directori

Projectes

Publicacions

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 (LRRK2) 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.

High-frequency stimulation of the ventrolateral thalamus regulates gene expression in hippocampus, motor cortex and caudate-putamen.

Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis.

Giant SCA8 alleles in nine children whose mother has two moderately large ones.

Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness.

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