Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis von Wang, Cheng, Li, Yulei, Shi, Lei, Ren, Jie, Patti, Monica, Wang, Tao, de Oliveira, João R M, Sobrido, María-Jesús, Quintáns, Beatriz, Baquero, Miguel, Cui, Xiaoniu, Zhang, Xiang-Yang, Wang, Lianqing, Xu, Haibo, Wang, Junhan, Yao, Jing, Dai, Xiaohua, Liu, Juan, Zhang, Lu, Ma, Hongying, Gao, Yong, Ma, Xixiang, Feng, Shenglei, Liu, Mugen, Wang, Qing K, Forster, Ian C, Zhang, Xue, Liu, Jing-Yu

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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia von Van de Vondel, Liedewei, De Winter, Jonathan, Beijer, Danique, Coarelli, Giulia, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G., Klein, Katrin, Rautenberg, Maren, Guillot‐Noël, Léna, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Durr, Alexandra, Klebe, Stephan, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W., Sobrido, María‐Jesús, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M., Timmerman, Vincent, Haack, Tobias B., Züchner, Stephan, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A. Nazli, Baets, Jonathan

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Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated? von Sobrido, María‐Jesús

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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo von Todd, Tiffany W., McEachin, Zachary T., Chew, Jeannie, Burch, Alexander R., Jansen-West, Karen, Tong, Jimei, Yue, Mei, Song, Yuping, Castanedes-Casey, Monica, Kurti, Aishe, Dunmore, Judith H., Fryer, John D., Zhang, Yong-Jie, San Millan, Beatriz, Teijeira Bautista, Susana, Arias, Manuel, Dickson, Dennis, Gendron, Tania F., Sobrido, María-Jesús, Disney, Matthew D., Bassell, Gary J., Rossoll, Wilfried, Petrucelli, Leonard

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SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population von Carreño, Oriel, Corominas, Roser, Fernández-Morales, Jessica, Camiña, Montserrat, Sobrido, María-Jesús, Fernández-Fernández, José Manuel, Pozo-Rosich, Patricia, Cormand, Bru, Macaya, Alfons

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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study von Navas-Sánchez, Francisco J., Marcos-Vidal, Luis, de Blas, Daniel Martín, Fernández-Pena, Alberto, Alemán-Gómez, Yasser, Guzmán-de-Villoria, Juan A., Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration von Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

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A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype von Quelle-Regaldie, Ana, Folgueira, Mónica, Yáñez, Julián, Sobrido-Cameán, Daniel, Alba-González, Anabel, Barreiro-Iglesias, Antón, Sobrido, María-Jesús, Sánchez, Laura

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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population von Fachal, Laura, Mosquera-Miguel, Ana, Pastor, Pau, Ortega-Cubero, Sara, Lorenzo, Elena, Oterino-Durán, Agustín, Toriello, María, Quintáns, Beatriz, Camiña-Tato, Montse, Sesar, Angel, Vega, Ana, Sobrido, María-Jesús, Salas, Antonio

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Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation von Torres-Español, María, Anvar, Seyed Yahya, Sobrido, María-Jesús

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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4 von Navas-Sánchez, Francisco J., Fernández-Pena, Alberto, Martín de Blas, Daniel, Alemán-Gómez, Yasser, Marcos-Vidal, Luís, Guzmán-de-Villoria, Juan A., Fernández-García, Pilar, Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Pardo, Julio, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, Desco, Manuel

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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? von Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J

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Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease von Toustrup-Jensen, Mads S., Einholm, Anja P., Schack, Vivien R., Nielsen, Hang N., Holm, Rikke, Sobrido, María-Jesús, Andersen, Jens P., Clausen, Torben, Vilsen, Bente

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PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36 von Aguiar, Pablo, Pardo, Julio, Arias, Manuel, Quintáns, Beatriz, Fernández‐Prieto, Montse, Martínez‐Regueiro, Rocío, Pumar, José‐Manuel, Silva‐Rodríguez, Jesús, Ruibal, Álvaro, Sobrido, María‐Jesús, Cortés, Julia

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles von Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

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Cholesterol and Cognition: A Question of Balance? von Sobrido, María-Jesús

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New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies von Sobrido, María-Jesús

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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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Databases for neurogenetics: Introduction, overview, and challenges von Sobrido, María-Jesús, Cacheiro, Pilar, Carracedo, Ángel, Bertram, Lars

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Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation von Calviño, Jesús, Cigarrán, Secundino, Gonzalez-Tabares, Lourdes, Guijarro, Monica, Millán, Beatriz, Cobelo, Carmen, Cillero, Sonia, Sobrido, María-Jesús

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