David Genı́s

Hospital Santa Caterina — Spain

Neuroscience · Life Sciences

13h-index1.5kcitations30works2.82yr avg
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Research Topics

Genetic Neurodegenerative Diseases(20), Mitochondrial Function and Pathology(12), Neurological disorders and treatments(6), Parkinson's Disease Mechanisms and Treatments(4), Neurological diseases and metabolism(3)

Publications30 total

The FGF14-SCA27B GAA•TTC Repeat Shows a Marked Somatic Expansion Bias in the Cerebellum (S4.004)
Neurology·2025
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients
Journal of Neurology·2025· 2 cited
111. ATAXIA CEREBELOSA DE INICIO TARDÍO APARENTEMENTE GENÉTICA. PERO NO ESE GEN
Neurology Perspectives·2024Open Access
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
Brain·2024· 9 citedOpen Access
Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
2024· 3 citedOpen Access
Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients
Movement Disorders·2024· 3 citedOpen Access
A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
Journal of the Neurological Sciences·2023· 5 cited
Calcitriol treatment is safe and increases frataxin levels in Friedreich Ataxia patients
2023Open Access
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
New England Journal of Medicine·2022· 222 citedOpen Access
Heterozygous <i>STUB1</i> mutation causes familial ataxia with cognitive affective syndrome (SCA48)
Neurology·2018· 101 cited
Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (<i>LRRK2</i>) G2019S mutation carriers
Movement Disorders·2017· 23 cited
A randomized, controlled, single-blind, 6-month pilot study to evaluate the efficacy of MS-Line!: a cognitive rehabilitation programme for patients with multiple sclerosis
Multiple Sclerosis Journal·2015· 26 cited
A new cognitive rehabilitation programme for patients with multiple sclerosis: the ‘MS-line! Project’
Multiple Sclerosis Journal·2014· 4 cited
Novel Therapeutic Challenges in Cerebellar Diseases
2012· 4 cited
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· 7 cited
Front &amp; Back Matter
Dementia and Geriatric Cognitive Disorders·2012
Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials
The Cerebellum·2011· 129 cited
High-frequency stimulation of the ventrolateral thalamus regulates gene expression in hippocampus, motor cortex and caudate–putamen
Brain Research·2011· 21 cited
Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis
Neuroscience Letters·2008· 25 cited
Giant SCA8 alleles in nine children whose mother has two moderately large ones
Annals of Neurology·2005· 15 cited
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Frequent Co-authors

Vı́ctor Volpini(7), David Pellerin(6), Matt C. Danzi(6), Laura Molina‐Porcel(6), Bernard Brais(6), M. Renaud(5), Henry Houlden(5), Jordi Corral(5), Xavier Estivill(5), Marie‐Josée Dicaire(4), Gianina Ravenscroft(4), Isabel Banchs(4), Stephan Züchner(4), Catherine Ashton(3), Christopher Yanick(3), Zane Jaunmuktane(3), Mario Saporta(3), Miguel Angel Pujana(3), Mónica Gratacòs(3), Héctor San Nicolás(3)