Search Results - "Marti‐Masso, J. F."

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1 by Sistiaga, A, Urreta, I, Jodar, M, Cobo, A M, Emparanza, J, Otaegui, D, Poza, J J, Merino, J J, Imaz, H, Martí-Massó, J F, López de Munain, A

“…Although central nervous system (CNS) involvement in adult myotonic dystrophy type 1 (DM1) was described long ago, the large number of variables affecting the…”
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Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease by Brockmann, K., Schulte, C., Schneiderhan‐Marra, N., Apel, A., Pont‐Sunyer, C., Vilas, D., Ruiz‐Martinez, J., Langkamp, M., Corvol, J.‐C., Cormier, F., Knorpp, T., Joos, T. O., Bernard, A., Gasser, T., Marras, C., Schüle, B., Aasly, J. O., Foroud, T., Marti‐Masso, J. F., Brice, A., Tolosa, E., Berg, D., Maetzler, W.

“…Background and purpose The presentation of Parkinson's disease patients with mutations in the LRRK2 gene (PDLRRK2) is highly variable, suggesting a strong…”
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Frontotemporoparietal dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation by MORENO, F, INDAKOETXEA, B, LOPEZ DE MUNAIN, A, BARANDIARAN, M, ALZUALDE, A, GABILONDO, A, ESTANGA, A, RUIZ, J, RUIBAL, M, BERGARECHE, A, MARTI-MASSO, J. F

“…Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions…”
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Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients by Otaegui, D, Zuriarrain, O, Castillo-Triviño, T, Aransay, AM, Ruíz-Martinez, J, Olaskoaga, J, Marti-Masso, JF, Lopez de Munain, A

“…Background Synapsins are a family of neuron-specific phosphoproteins, one of whose subunits is encoded by the SYN3 gene. This gene is located close to one of…”
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Phenotypic variability in familial prion diseases due to the D178N mutation by Zarranz, J J, Digon, A, Atarés, B, Rodríguez-Martínez, A B, Arce, A, Carrera, N, Fernández-Manchola, I, Fernández-Martínez, M, Fernández-Maiztegui, C, Forcadas, I, Galdos, L, Gómez-Esteban, J C, Ibáñez, A, Lezcano, E, López de Munain, A, Martí-Massó, J F, Mendibe, M M, Urtasun, M, Uterga, J M, Saracibar, N, Velasco, F, de Pancorbo, M M

“…Background: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional…”
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Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis : A report of 50 cases by GOMEZ-ARANDA, F, CANADILLAS, F, MARTI-MASSO, J. F, DIEZ-TEJEDOR, E, SERRANO, P. J, LEIRA, R, GRACIA, M, PASCUAL, J

“…This is the first large series, comprising 50 patients who suffered a total of 164 episodes, of pseudomigraine with temporary neurological symptoms and…”
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Cabergoline in the treatment of early Parkinson's disease : Results of the first year of treatment in a double-blind comparison of cabergoline and levodopa by RINNE, U. K, BRACCO, F, GRIMALDI, R, CHOUZA, C, DUPONT, E, GERSHANIK, O, MARTI MASSO, J. F, MONTASTRUC, J. L, MARSDEN, C. D, DUBINI, A, ORLANDO, N

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Frequency of myotonic dystrophy gene carriers in cataract patients by Cobo, A M, Poza, J J, Blanco, A, López de Munain, A, Saénz, A, Azpitarte, M, Marchessi, J, Martí Massó, J F

“…DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract patients. A previous…”
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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease by Paisán-Ruı́z, Coro, Jain, Shushant, Evans, E.Whitney, Gilks, William P., Simón, Javier, van der Brug, Marcel, de Munain, Adolfo López, Aparicio, Silvia, Gil, Angel Martı́nez, Khan, Naheed, Johnson, Janel, Martinez, Javier Ruiz, Nicholl, David, Carrera, Itxaso Marti, Peňa, Amets Saénz, de Silva, Rohan, Lees, Andrew, Martı́-Massó, José Félix, Pérez-Tur, Jordi, Wood, Nick W., Singleton, Andrew B.

“…Parkinson's disease (PD; OMIM #168600) is the second most common neurodegenerative disorder in the Western world and presents as a progressive movement…”
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Intramedullary spinal sarcoidosis : clinical and magnetic resonance imaging characteristics by JUNGER, S. S, STERN, B. J, LEVINE, S. R, SIPOS, E, MARTI-MASSO, J. F

“…We present a retrospective series of the clinical and MRI findings in 16 patients with intramedullary spinal sarcoidosis (ISS), including 12 patients studied…”
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Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2 by Estanga, A, Rodriguez-Oroz, M.C, Ruiz-Martinez, J, Barandiaran, M, Gorostidi, A, Bergareche, A, Mondragon, E, Lopez de Munain, A, Marti-Masso, J.F

“…Abstract Objective The neuropsychological characteristics of patients with Parkinson's Disease (PD) associated with R1441G mutation in the LRRK2 gene…”
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Cinnarizine-induced parkinsonism: Ten years later by Martí-Massó, José F., Poza, Juan J.

“…A retrospective study was carried out to investigate the evolution of patients diagnosed with cinnarizineinduced parkinsonism (CIP) over the past 15 years. A…”
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Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy by de Munain, A. López, Cobo, A.M., Sáenz, A., Blanco, A., Poza, J.J., Martorell, L., Martí-Massó, J.F., Baiget, M.

“…Myotonic dystrophy (MD), an autosomal dominant multisystemic disorder with a high phenotypic variability, is the most common muscular dystrophy in adult life…”
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Early treatment of Parkinson's Disease with cabergoline delays the onset of motor complications: Results of a double-blind levodopa controlled trial by RINNE, U. K, BRACCO, F, CHOUZA, C, DUPONT, E, GERSHANIK, O, MARTI MASSO, J. F, MONTASTRUC, J. L, MARSDEN, C. D

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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene by Sáenz, A., Leturcq, F., Cobo, A. M., Poza, J. J., Ferrer, X., Otaegui, D., Camaño, P., Urtasun, M., Vílchez, J., Gutiérrez-Rivas, E., Emparanza, J., Merlini, L., Paisán, C., Goicoechea, M., Blázquez, L., Eymard, B., Lochmuller, H., Walter, M., Bonnemann, C., Figarella-Branger, D., Kaplan, J. C., Urtizberea, J. A., Martí-Massó, J. F., de Munain, A. López

“…We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing ∼50% (238 out…”
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Citicoline in the treatment of Parkinson's disease by Martí Massó, J F, Urtasun, M

“…The subjects were 20 patients with Parkinson's disease. They were aged 52 to 76 years and the duration of the disease ranged from four to 25 years (mean, 12.5…”
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Drugs inducing or aggravating parkinsonism: a review by Marti-Massó, J F, Poza, J J, Lopez de Munain, A

“…Drug-induced parkinsonism (DIP) is frequent. The list of drugs able to induce parkinsonism is long and probably incomplete, because new drugs, with previously…”
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LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity by Gorostidi, A., Ruiz-Martínez, J., Lopez de Munain, A., Alzualde, A., Martí Massó, J. F.

“…Mutations in LRRK2 gene are the most frequent cause of Parkinson’s disease (PD) described, but their prevalence varies between populations. Patients, 418, with…”
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Atypical presentation of Gilles de la Tourette syndrome by Linazasoro, G, Olasagasti, B, Marti Masso, J F

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Concerning the initial description of pseudomigraine syndrome with cerebrospinal fluid pleocytosis by Marti-Masso, J F

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