A note on rotigotine for restless legs syndrome after renal transplantation von Calviño, Jesus, Guijarro, Monica, Cigarran, Secundino, González‐Tabares, Lourdes, Sobrido, Maria‐Jesus

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An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA) von Maarouf, Haitham, Taboada, María, Rodriguez, Hadriana, Arias, Manuel, Sesar, Ángel, Sobrido, María Jesús

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Zebrafish Models of Autosomal Recessive Ataxias von Quelle-Regaldie, Ana, Sobrido-Camean, Daniel, Barreiro-Iglesias, Anton, Sobrido, Maria Jesus, Sanchez, Laura

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Zebrafish Models of Autosomal Dominant Ataxias von Quelle-Regaldie, Ana, Sobrido-Camean, Daniel, Barreiro-Iglesias, Anton, Sobrido, Maria Jesus, Sanchez, Laura

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Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation von Quelle-Regaldie, Ana, Gandoy-Fieiras, Nerea, Rodríguez-Villamayor, Paula, Maceiras, Sandra, Losada, Ana Paula, Folgueira, Mónica, Cabezas-Sáinz, Pablo, Barreiro-Iglesias, Antón, Villar-López, María, Quiroga-Berdeal, María Isabel, Sánchez, Laura, 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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Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs) von Povey, Sue, Al Aqeel, Aida I, Cambon‐Thomsen, Anne, Dalgleish, Raymond, den Dunnen, Johan T, Firth, Helen V, Greenblatt, Marc S, Barash, Carol Isaacson, Parker, Michael, Patrinos, George P, Savige, Judith, Sobrido, Maria‐Jesus, Winship, Ingrid, Cotton, Richard G.H

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Neurophysiological study in cerebrotendinous xanthomatosis von Pilo, Belen, Blas, Gema de, Sobrido, Maria Jesus, Navarro, Carmen, Grandas, Francisco, Barrero, Francisco J., Moya, Miguel Angel, Jimenez-Escrig, Adriano

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Restless legs syndrome in non-dialysis renal patients: is it really that common? von Calviño, Jesús, Cigarrán, Secundino, Lopez, Luis M, Martinez, Agustin, Sobrido, Maria-Jesús

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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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Prevalence of Essential Tremor on Arosa Island, Spain: a Community-based, Door-to-Door Survey von Seijo-Martínez, Manuel, Del Río, María Castro, Alvarez, Jose Ramon Rodríguez, Prado, Ramon Suarez, Salgado, Eugenio Torres, Esquete, Javier Paz, Sobrido-Gómez, Maria Jesus

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

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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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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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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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