Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1
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.
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Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease
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.
Published in European journal of neurology (01.02.2017)
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"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation
Moreno, F, Indakoetxea, B, Barandiaran, M, Alzualde, A, Gabilondo, A, Estanga, A, Ruiz, J, Ruibal, M, Bergareche, A, Martí-Massó, J F, López de Munain, A
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Phenotypic variability in familial prion diseases due to the D178N mutation
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
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2005)
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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene
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
Published in Brain (London, England : 1878) (01.04.2005)
Published in Brain (London, England : 1878) (01.04.2005)
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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
Gorostidi, A., Ruiz-Martínez, J., Lopez de Munain, A., Alzualde, A., Martí Massó, J. F.
Published in Neurogenetics (01.04.2009)
Published in Neurogenetics (01.04.2009)
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Pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis : A report of 50 cases
GOMEZ-ARANDA, F, CANADILLAS, F, MARTI-MASSO, J. F, DIEZ-TEJEDOR, E, SERRANO, P. J, LEIRA, R, GRACIA, M, PASCUAL, J
Published in Brain (London, England : 1878) (01.07.1997)
Published in Brain (London, England : 1878) (01.07.1997)
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Frequency of myotonic dystrophy gene carriers in cataract patients
Cobo, A M, Poza, J J, Blanco, A, López de Munain, A, Saénz, A, Azpitarte, M, Marchessi, J, Martí Massó, J F
Published in Journal of medical genetics (01.03.1996)
Published in Journal of medical genetics (01.03.1996)
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Different stages during CVD deposition on porous substrates
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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
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.
Published in Neuron (Cambridge, Mass.) (18.11.2004)
Published in Neuron (Cambridge, Mass.) (18.11.2004)
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Is the depth correction using the geometric mean really necessary in a 99Tcm-DMSA scan in the paediatric population?
Hervás, I, Martí, J F, González, A, Ruiz, J C, Alonso, J, Bello, P, Manzano, F, Torres, I, Mateo, A
Published in Nuclear medicine communications (01.05.2001)
Published in Nuclear medicine communications (01.05.2001)
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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
Poza, J. J., Sáenz, A., Martínez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Martí-Massó, J. F., Grid, D., Beckmann, J. S., Prud'Homme, J. F., López De Munain, A.
Published in Annals of neurology (01.02.1999)
Published in Annals of neurology (01.02.1999)
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Intramedullary spinal sarcoidosis: clinical and magnetic resonance imaging characteristics
Junger, S S, Stern, B J, Levine, S R, Sipos, E, Marti-Masso, J F
Published in Neurology (01.02.1993)
Published in Neurology (01.02.1993)
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Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2
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
Published in Parkinsonism & related disorders (01.10.2014)
Published in Parkinsonism & related disorders (01.10.2014)
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Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect
Sistiaga, A., Camaño, P., Otaegui, D., Ibáñez, B., Ruiz‐Martinez, J., Martí‐Massó, J. F., López de Munain, A.
Published in Genes, brain and behavior (01.02.2009)
Published in Genes, brain and behavior (01.02.2009)
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