Search Results - "Genis, David"

Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers by Vilas, Dolores, Sharp, Madeleine, Gelpi, Ellen, Genís, David, Marder, Karen S., Cortes, Etty, Vonsattel, Jean‐Paul, Tolosa, Eduard, Alcalay, Roy N.

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Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients by Alemany‐Perna, Berta, Tamarit, Jordi, Cabiscol, Elisa, Delaspre, Fabien, Miguela, Albert, Huertas‐Pons, Joana Maria, Quiroga‐Varela, Ana, Merchan Ruiz, Miguel, López Domínguez, Daniel, Ramió i Torrentà, Lluís, Genís, David, Ros, Joaquim

“…Background Calcitriol, the active form of vitamin D (also known as 1,25‐dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell…”
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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 by Gich, Jordi, Freixanet, Jordi, García, Rafael, Vilanova, Joan Carles, Genís, David, Silva, Yolanda, Montalban, Xavier, Ramió-Torrentà, Lluís

“…Background: MS-Line! was created to provide an effective treatment for cognitive impairment in multiple sclerosis (MS) patients. Objective: To assess the…”
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A new cognitive rehabilitation programme for patients with multiple sclerosis: the ‘MS-line! Project’ by Gich, Jordi, Freixenet, Jordi, Garcia, Rafael, Vilanova, Joan Carles, Genís, David, Silva, Yolanda, Montalban, Xavier, Ramió-Torrentà, Lluís

“…Background: Cognitive rehabilitation is often delayed in multiple sclerosis (MS). Objective: To develop a free and specific cognitive rehabilitation programme…”
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High-frequency stimulation of the ventrolateral thalamus regulates gene expression in hippocampus, motor cortex and caudate–putamen by Kádár, Elisabeth, Lim, Lee Wei, Carreras, Gemma, Genís, David, Temel, Yasin, Huguet, Gemma

“…Abstract High-frequency stimulation (HFS) of the ventrolateral (VL) thalamus is effective in treating the resting tremor of Parkinson's disease (PD). PD is a…”
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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48) by Genis, David, Ortega-Cubero, Sara, San Nicolás, Hector, Corral, Jordi, Gardenyes, Josep, de Jorge, Laura, López, Eva, Campos, Berta, Lorenzo, Elena, Tonda, Raúl, Beltran, Sergi, Negre, Montserrat, Obón, María, Beltran, Brigitte, Fàbregas, Laura, Alemany, Berta, Márquez, Fabián, Ramió-Torrentà, Lluís, Gich, Jordi, Volpini, Víctor, Pastor, Pau

“…OBJECTIVETo describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA. METHODSThis…”
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Effect of malnutrition after acute stroke on clinical outcome by DAVALOS, A, RICART, W, GONZALEZ-HUIX, F, SOLER, S, MARRUGAT, J, MOLINS, A, SUNER, R, GENIS, D

“…Malnutrition has received little attention in acute stroke, although it represents a risk of decreased immunity and nosocomial infections. Our objectives were…”
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Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum by Pellerin, David, Méreaux, Jean-Loup, Boluda, Susana, Danzi, Matt C, Dicaire, Marie-Josée, Davoine, Claire-Sophie, Genis, David, Spurdens, Guinevere, Ashton, Catherine, Hammond, Jillian M, Gerhart, Brandon J, Chelban, Viorica, Le, Phuong U, Safisamghabadi, Maryam, Yanick, Christopher, Lee, Hamin, Nageshwaran, Sathiji K, Matos-Rodrigues, Gabriel, Jaunmuktane, Zane, Petrecca, Kevin, Akbarian, Schahram, Nussenzweig, André, Usdin, Karen, Renaud, Mathilde, Bonnet, Céline, Ravenscroft, Gianina, Saporta, Mario A, Napierala, Jill S, Houlden, Henry, Deveson, Ira W, Napierala, Marek, Brice, Alexis, Molina Porcel, Laura, Seilhean, Danielle, Zuchner, Stephan, Durr, Alexandra, Brais, Bernard

“…Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14. Neuropathological studies…”
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Abnormal corticospinal tract modulation of the soleus H reflex in patients with pure spastic paraparesis by Serranová, Teresa, Valls-Solé, Josep, Muñoz, Esteban, Genís, David, Jech, Robert, Seeman, Pavel

“…Central motor conduction time (CMCT) is usually abnormally prolonged in leg muscles of patients with pure hereditary spastic paraparesis (PHSP). One…”
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Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials by Saute, Jonas Alex Morales, Donis, Karina Carvalho, Serrano-Munuera, Carmen, Genis, David, Ramirez, Luís Torres, Mazzetti, Pilar, Pérez, Luis Velázquez, Latorre, Pilar, Sequeiros, Jorge, Matilla-Dueñas, Antoni, Jardim, Laura Bannach

“…We aimed to perform a comprehensive systematic review of the existing ataxia scales. We described the disorders for which the instruments have been validated…”
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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 by Calvó-Perxas, Laia, López-Pousa, Secundino, Vilalta-Franch, Joan, Turró-Garriga, Oriol, Blankenburg, Michael, Febrer, Laia, Flaqué, Margarida, Vallmajó, Natàlia, Aguirregomozcorta, Maria, Genís, David, Casas, Isabel, Perkal, Héctor, Coromina, Joan, Garre-Olmo, Josep

“…To describe central nervous system (CNS) drug consumption patterns depending on the time to diagnosis of Alzheimer's disease (AD), and to check whether the…”
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Spinocerebellar ataxias in Spanish patients : genetic analysis of familial and sporadic cases by PUJANA, M. A, CORRAL, J, GRATACOS, M, COMBARROS, O, BERCIANO, J, GENIS, D, BANCHS, I, ESTIVILL, X, VOLPINI, V

“…Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders caused by unstable CAG repeat expansions…”
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Giant SCA8 alleles in nine children whose mother has two moderately large ones by Corral, Jordi, Genís, David, Banchs, Isabel, San Nicolás, Hector, Armstrong, Judith, Volpini, Víctor

“…We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG…”
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Pleural effusion and pulmonary hypertension in a patient with Parkinson disease treated with cabergoline by Haro-Estarriol, Manuel, Sabater-Talaverano, Gladis, Rodríguez-Jerez, Francisco, Obrador-Lagares, Anton, Genís-Batlle, David, Sendra-Salillas, Salvi

“…Cabergoline is a synthetic dopamine agonist used to treat Parkinson disease. The drug occasionally induces pleuropulmonary adverse effects, which manifest as…”
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Decreased hypocretin-1 (orexin-A) levels in the cerebrospinal fluid of patients with Myotonic dystrophy and excessive daytime sleepiness by MARTINEZ-RODRIGUEZ, Jose E, LING LIN, IRANZO, Alex, GENIS, David, MARTI, Maria J, SANTAMARIA, Joan, MIGNOT, Emmanuel

“…Myotonic dystrophy type 1 is a multisystem disorder with myotonia, muscle weakness, cataracts, endocrine dysfunction, and intellectual impairment. This…”
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Swallowing in degenerative ataxias by RAMIO-TORRENTA, Lluis, GOMEZ, Enric, GENIS, David

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A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia by Pellerin, David, Danzi, Matt, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin, Ashton, Catherine, Genís, David, Porcel, Laura Molina, Nagy, Sara, Nalini, Atchayaram, Boycott, Kym, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel, Lamont, Phillipa, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

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Safety and Tolerability of a ‘Refrigeration-free’ Formulation of Interferon Beta-1b - Results of a Double-blind, Multicentre, Comparative Study in Patients with Relapsing-Remitting or Secondary Progressive Multiple Sclerosis by Baum, K

“…The original glucose-based formulation of Betaferon®/Betaseron® (interferon beta-1b) requires refrigerated storage. A refrigeration-free formulation of…”
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Machado-Joseph disease, spinopontine atrophy, and SCA3 by Genis, D, Volpini, V

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Psychotropic Drugs in Patients With Alzheimer's Disease: A Longitudinal Study by the Registry of Dementias of Girona (ReDeGi) in Catalonia, Spain by Calvó-Perxas, Laia, PhD, Turró-Garriga, Oriol, BPsych, Aguirregomozcorta, Maria, MD, Bisbe, Josep, MD, Hernández, Erélido, MD, López-Pousa, Secundino, PhD, Manzano, Anna, MD, Palacios, Mónica, BPharm, Pericot-Nierga, Imma, PhD, Perkal, Héctor, MD, Ramió, Lluís, MD, Vilalta-Franch, Joan, PhD, Garre-Olmo, Josep, PhD

“…Abstract Objectives Psychotropic drugs are usually prescribed to deal with behavioral and psychological symptoms of dementia, especially when nonpharmacologic…”
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