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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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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Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A>C (p.Asn386His) von García Estévez, D.A., Quintáns, B., Sabbagh Casado, N.A., Barros Angueira, F.

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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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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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Clinical and neuroimaging features of familial C9FTD/ALS: A case report von Pardo-Parrado, M, Clarimón, J, García-Redondo, A, Cebrián, E, Jiménez-Martínez, I, Cortés, J, Aguiar, P, Castiñeiras, J.A, García-Sobrino, T, Quintáns, B, Sobrido, M.J

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Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing von Quintáns, B, Álvarez-Iglesias, V, Salas, A, Phillips, C, Lareu, M.V, Carracedo, A

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Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing von Quintáns, B., Pardo, J., Campos, B., Barros, F., Volpini, V., Carracedo, Á., Sobrido, M.J.

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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia von Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

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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 counselling in Neurology: A complex problem that requires regulation von Quintáns, B., Prieto Fernández, M., Carracedo, A., Sobrido, M.J.

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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain von Arias, M., Mir, P., Fernández-Matarrubia, M., Arpa, J., García-Ramos, R., Blanco-Arias, P., Quintans, B., Sobrido, M.J.

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Asesoramiento genético en Neurología: un problema complejo que necesita regulación von Quintáns, B, Prieto, M. Fernández, Carracedo, A, Sobrido, M.J

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export von Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, Coppola, Giovanni

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Heredoataxia cerebelosa recesiva ARCA1/SCAR8: primeras familias detectadas en España von Arias, M., Mir, P., Fernández-Matarrubia, M., Arpa, J., García-Ramos, R., Blanco-Arias, P., Quintans, B., Sobrido, M.J.

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification von Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni

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The use of the LightCycler for the detection of Y chromosome SNPs von Lareu, Maviki, Puente, Jorge, Sobrino, Beatriz, Quintáns, Beatriz, Brión, Marı́a, Carracedo, Angel

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Behavioral disorders in Parkinson's disease. Genetic, pharmacological and medico-legal aspects von Sobrido, M J, Dias-Silva, J J, Quintáns, B

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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain von Arias, M, Mir, P, Fernández-Matarrubia, M, Arpa, J, García-Ramos, R, Blanco-Arias, P, Quintans, B, Sobrido, M J

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Y-chromosome STRs in populations of Bantu origin from Mozambique: male contribution to the Africa genetic pool and forensic implications von Sánchez-Diz, P, De La Fé, T, Quintáns, B, Salas, A, Lareu, M, Carracedo, A

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