PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia von Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M.‐J., Harmuth, F., Synofzik, M., Pascual, S.I.P., Colak, M., Ciftci‐Kavaklioglu, B., Kara, B., Ordóñez‐Ugalde, A., Quintáns, B., Gonzalez, M.A., Soysal, A., Zuchner, S., Battaloglu, E.

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Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey von Pilo-de-la-Fuente, B., Jimenez-Escrig, A., Lorenzo, J. R., Pardo, J., Arias, M., Ares-Luque, A., Duarte, J., Muñiz-Pérez, S., Sobrido, M. J.

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Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36) von Martínez-Regueiro, R., Arias, M., Cruz, R., Quintáns, B., Labella-Caballero, T., Pardo, M., Pardo, J., García-Murias, M., Carracedo, A., Sobrido, M-J, Fernández-Prieto, M.

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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia von Bettencourt, C., López-Sendón, J.L., García-Caldentey, J., Rizzu, P., Bakker, I.M.C., Shomroni, O., Quintáns, B., Dávila, J.R., Bevova, M.R., Sobrido, M.-J., Heutink, P., de Yébenes, J.G.

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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) von OLIVEIRA, J. R. M, SPITERI, E, HUTTON, M, MANYAM, B. V, BOLLER, F, BAQUERO, M, GESCHWIND, D. H, SOBRIDO, M. J, HOPFER, S, KLEPPER, J, VOIT, T, GILBERT, J, WSZOLEK, Z. K, CALNE, D. B, STOESSL, A. J

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Association study of the serotoninergic system in migraine in the spanish population von Corominas, R., Sobrido, M.J., Ribasés, M., Cuenca-León, E., Blanco-Arias, P., Narberhaus, B., Roig, M., Leira, R., López-González, J., Macaya, A., Cormand, B.

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Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study von Ortega Suero, G, Abenza Abildúa, M J, Serrano Munuera, C, Rouco Axpe, I, Arpa Gutiérrez, F J, Adarmes Gómez, A D, Rodríguez de Rivera, F J, Quintans Castro, B, Posada Rodríguez, I, Vadillo Bermejo, A, Domingo Santos, Á, Blanco Vicente, E, Infante Ceberio, I, Pardo Fernández, J, Costa Arpín, E, Painous Martí, C, Muñoz, J E, Mir Rivera, P, Montón Álvarez, F, Bataller Alberola, L, Gascón Bayarri, J, Casasnovas Pons, C, Vélez Santamaría, V, López Munain, A, Fernández García Eulate, G, Gazulla Abío, J, Sanz Gallego, I, Rojas Bartolomé, L, Ayo Martín, Ó, Segura Martín, T, González Mingot, C, Baraldés Rovira, M, Sivera Mascaró, R, Cubo Delgado, E, Echevarría Íñiguez, A, Vázquez Sánchez, F, Bártulos Iglesias, M, Casadevall Codina, M T, Martínez Fernández, E M, Labandeira Guerra, C, Alemany Perna, B, Carvajal Hernández, A, Fernández Moreno, C, Palacín Larroy, M, Caballol Pons, N, Ávila Rivera, A, Navacerrada Barrero, F J, Lobato Rodríguez, R, Sobrido Gómez, M J

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SCA8 repeat expansions in ataxia : A controversial association von SOBRIDO, M.-J, CHOLFIN, J. A, PERLMAN, S, PULST, S. M, GESCHWIND, D. H

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Possible association of the tau H1/H1 genotype with primary progressive aphasia von SOBRIDO, M.-J, ABU-KHALIL, A, WEINTRAUB, S, JOHNSON, N, QUINN, B, CUMMINGS, J. L, MESULAM, M.-M, GESCHWIND, D. H

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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism von Blanco-Arias, Patricia, Einholm, Anja P., Mamsa, Hafsa, Concheiro, Carla, Gutiérrez-de-Terán, Hugo, Romero, Jesús, Toustrup-Jensen, Mads S., Carracedo, Ángel, Jen, Joanna C., Vilsen, Bente, Sobrido, María-Jesús

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Automated semantic annotation of rare disease cases: a case study von Taboada, Maria, Rodríguez, Hadriana, Martínez, Diego, Pardo, María, Sobrido, María Jesús

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Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family von Sobrido, M. J., Fernández, J. M., Fontoira, E., Pérez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Álvarez, S., Mederer, S., Rivas, E., Seijo-Martínez, M., Navarro, C.

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SNOMED CT module-driven clinical archetype management von Allones, J.L., Taboada, M., Martinez, D., Lozano, R., Sobrido, M.J.

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Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): A community-based door-to-door survey von Seijo-Martinez, M, Castro del Rio, M, Rodríguez Alvarez, J, Suarez Prado, R, Torres Salgado, E, Paz Esquete, J, Sobrido, M.J

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Medical genomics: The intricate path from genetic variant identification to clinical interpretation von Quintáns, B., Ordóñez-Ugalde, A., Cacheiro, P., Carracedo, A., Sobrido, M.J.

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Low frequency of replication errors in primary nervous system tumours von Sobrido, Maria Jesús, Pereira, Carlos Rodriguez, Barros, Francisco, Forteza, Jerónimo, Carracedo, Ángel, Lema, Manuela

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Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V) von Robles, A., Sobrido, M.J., García-Murias, M., Prieto, J.M., Lema, M., Santos, D., Paramo, M.

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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants von Cacheiro, P., Ordóñez-Ugalde, A., Quintáns, B., Piñeiro-Hermida, S., Amigo, J., García-Murias, M., Pascual-Pascual, S. I., Grandas, F., Arpa, J., Carracedo, A., Sobrido, M. J.

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Analysis of 2 antiapoptotic factors in gliomas: bcl-2 overexpression and p53 mutations von Rodriguez-Pereira, C, Suarez-Peñaranda, J M, Barros, F, Sobrido, M J, Vazquez-Salvado, M, Forteza, J

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Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease") von Oliveira, J R M, Sobrido, M J, Spiteri, E, Hopfer, S, Meroni, G, Petek, E, Baquero, M, Geschwind, D H

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