LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene von 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

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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 von Gorostidi, A., Ruiz-Martínez, J., Lopez de Munain, A., Alzualde, A., Martí Massó, J. F.

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Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1 von 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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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q von 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.

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Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area von Andrés, N, Poza, J J, Martí Massó, J F

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Hemiballism due to sildenafil use von MARTI, Itxaso, MARTI MOSSO, J. F

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Inflammatory profile discriminates clinical subtypes in LRRK2‐associated Parkinson's disease von 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.

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Prevalence of Parkinson's disease and other types of parkinsonism: A door-to-door survey in Bidasoa, Spain von BERGARECHE, A, DE LA PUENTE, E, LOPEZ DE MUNAIN, A, SARASQUETA, C, DE ARCE, A, POZA, J. J, MARTI-MASSO, J. F

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Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect von Sistiaga, A., Camaño, P., Otaegui, D., Ibáñez, B., Ruiz‐Martinez, J., Martí‐Massó, J. F., López de Munain, A.

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Frontotemporoparietal dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation von 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

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Phenotypic variability in familial prion diseases due to the D178N mutation von 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

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Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy von Ayerdi-Izquierdo, A., Stavrides, G., Sellés-Martínez, J.J., Larrea, L., Bovo, G., Munain, A. López de, Bisulli, F., Martí-Massó, J.F., Michelucci, R., Poza, J.J., Tinuper, P., Stephani, U., Striano, P., Striano, S., Staub, E., Sarafidou, T., Hinzmann, B., Moschonas, N., Siebert, R., Deloukas, P., Nobile, C., Pérez-Tur, J.

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain) von URTASUN, M, SAENZ, A, MARTI MASSO, J. F, BECKMANN, J. S, LOPEZ DE MUNAIN, A, ROUDAUT, C, POZA, J. J, URTIZBEREA, J. A, COBO, A. M, RICHARD, I, GARCIA BRAGADO, F, LETURCQ, F, KAPLAN, J. C

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Mitochondrial polymporphisms in Parkinson's Disease von Otaegui, D., Paisán, C., Sáenz, A., Martí, I., Ribate, M., Martí-Massó, J.F., Pérez-Tur, J., López de Munain, A.

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Radioimmunometric assay of B-type natriuretic peptide (BNP) in heart transplantation: correlation between BNP determinations and biopsy grading of rejection von HERVÁS, I, ALMENAR, L, PÉREZ-PASTOR, J L, CHIRIVELLA, M, OSA, A, MARTÍNEZ-DOLZ, L, BELLO, P, MARTÍ, J F, ARNAU, M A, VERA, F, RUEDA, J, PALENCIA, M, MATEO, A

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Radioimmunometric assay of natriuretic peptide type-B (BNP) in heart failure von HERVÁS, I, OSCA, J, PÉREZ-PASTOR, J L, QUESADA, A, ARNAU, M A, MARTÍ, J F, ALMENAR, L, BELLO, P, MATEO, A

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Marchiafava-Bignami disease with widespread extracallosal lesions and favourable course von RUIZ-MARTINEZ, J, MARTINEZ PEREZ-BALSA, A, RUIBAL, M, URTASUN, M, VILLANUA, J, MARTI MASSO, J. F

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The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy von ROJAS-GARCIA, R, TIZZANO, E, RALLO, B, SERRANO, S, BAIGET, M, ILLA, I, CUSCO, I, GALLARDO, E, BARCELO, M. J, DE ANDRES, I, LARRODE, P, MARTI-MASSO, J. F, MARTINEZ-MATOS, J. A, POVEDANO, M

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Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance von Serrano-Munuera, C, Gallardo, E, Rojas, R, De Luna, N, González-Masegosa, A, Martı́-Massó, J.F, Martı́nez-Matos, A, Ortı́z, N, Reñé, R, Berciano, J, Grau, J.M, Willison, H.J, Graus, F, Illa, I

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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease von 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.

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