Familial Parkinson's disease: Clinical and genetic analysis of four Basque families von Paisàn-Ruìz, Coro, Sàenz, Amets, de Munain, Adolfo Lòpez, Martì, Itxaso, Martìnez Gil, Angel, Martì-Massò, Josè F., Pèrez-Tur, Jordi

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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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Tau/α‐synuclein ratio and inflammatory proteins in Parkinson's disease: An exploratory study von Delgado‐Alvarado, Manuel, Gago, Belén, Gorostidi, Ana, Jiménez‐Urbieta, Haritz, Dacosta‐Aguayo, Rosalía, Navalpotro‐Gómez, Irene, Ruiz‐Martínez, Javier, Bergareche, Alberto, Martí‐Massó, José F., Martínez‐Lage, Pablo, Izagirre, Andrea, Rodríguez‐Oroz, María C.

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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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The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics von Moreno, Fermin, Indakoetxea, Begoña, Barandiaran, Myriam, Caballero, María Cristina, Gorostidi, Ana, Calafell, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José F, López de Munain, Adolfo, Sánchez-Juan, Pascual, Lee, Suzee E

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Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2 von Ruiz-Martínez, Javier, de la Riva, Patricia, Rodríguez-Oroz, Maria C., Mondragón Rezola, Elisabet, Bergareche, Alberto, Gorostidi, Ana, Gago, Belen, Estanga, Ainara, Larrañaga, Nerea, Sarasqueta, Cristina, López de Munain, Adolfo, Martí Massó, José F.

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Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain) von Ruiz-Martínez, Javier, Gorostidi, Ana, Ibañez, Berta, Alzualde, Ainhoa, Otaegui, David, Moreno, Fermin, de Munain, Adolfo López, Bergareche, Alberto, Gómez-Esteban, Juan Carlos, Massó, José F. Martí

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α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers von Gorostidi, Ana, Bergareche, Alberto, Ruiz-Martínez, Javier, Martí-Massó, José F., Cruz, María, Varghese, Shiji, Qureshi, Mohamed M., Alzahmi, Fatimah, Al-Hayani, Abdulmonem, de Munáin, Adolfo López, El-Agnaf, Omar M.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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Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia von Paisán-Ruiz, Coro, Ruiz-Martinez, Javier, Ruibal, Marta, Mok, Kin Y., Indakoetxea, Begona, Gorostidi, Ana, Massó, José F. Martí

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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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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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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy von Morante-Redolat, José M., Gorostidi-Pagola, Ana, Piquer-Sirerol, Salomé, Sáenz, Amets, Poza, Juan J., Galán, Juan, Gesk, Stefan, Sarafidou, Theologia, Mautner, Victor-F., Binelli, Simona, Staub, Eike, Hinzmann, Bernd, French, Lisa, Prud'homme, Jean-F., Passarelli, Daniela, Scannapieco, Paolo, Tassinari, Carlo A., Avanzini, Giuliano, Martí-Massó, José F., Kluwe, Lan, Deloukas, Panagiotis, Moschonas, Nicholas K., Michelucci, Roberto, Siebert, Reiner, Nobile, Carlo, Pérez-Tur, Jordi, López de Munain, Adolfo

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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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THE EFFECT OF GROWTH DIFFERENTIATION FACTOR 11 (GDF11) ON THE RESPONSE OF TUMOR-ASSOCIATED MACROPHAGES IN HEPATOCELLULAR CARCINOMA DERIVED CELLS von Escobedo-Calvario, A., Chávez-Rodríguez, L., Souza, V., Labra, R.U. Miranda, Masso, F., Páez-Arenas, A., Hernández-Pando, R., Gómez-Quiroz, L.E., Gutiérrez-Ruíz, María C.

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FRUCTOSE DIET INDUCES A METABOLIC REPROGRAMMING TO ENHANCE TUMOR AGGRESSIVENESS von Chávez-Rodríguez, L., Escobedo-Calvario, A., Simoni-Nieves, A., Bucio, L., Souza, V., Labra, R.U. Miranda, Enriquez-Cortina, G.C., Masso, F., Arenas, A. Páez, Calvisi, D.F., Gutiérrez-Ruíz, M.C., Gómez-Quiroz, L.E.

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Norton scale score on admission and mortality of patients hospitalised in Internal Medicine departments von Díez-Manglano, J, Arnal-Longares, M J, Al-Cheikh-Felices, P, Garcés-Horna, V, Pueyo-Tejedor, P, Martínez-Rodés, P, Díez-Massó, F, Rubio-Félix, S, Del Corral-Beamonte, E, Palazón-Fraile, C

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Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease von Kalia, Lorraine V, Lang, Anthony E, Hazrati, Lili-Naz, Fujioka, Shinsuke, Wszolek, Zbigniew K, Dickson, Dennis W, Ross, Owen A, Van Deerlin, Vivianna M, Trojanowski, John Q, Hurtig, Howard I, Alcalay, Roy N, Marder, Karen S, Clark, Lorraine N, Gaig, Carles, Tolosa, Eduardo, Ruiz-Martínez, Javier, Marti-Masso, Jose F, Ferrer, Isidre, López de Munain, Adolfo, Goldman, Samuel M, Schüle, Birgitt, Langston, J. William, Aasly, Jan O, Giordana, Maria T, Bonifati, Vincenzo, Puschmann, Andreas, Canesi, Margherita, Pezzoli, Gianni, Maues De Paula, Andre, Hasegawa, Kazuko, Duyckaerts, Charles, Brice, Alexis, Stoessl, A. Jon, Marras, Connie

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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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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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