Membranous nephropathy, leiomyoma and autoimmune myasthenia: more than a coincidence?

por Calviño, Jesus, Adeva, Magdalena, Sobrido, Maria-Jesus
Publicado 2012

Applied and translational neurogenomics

por Sobrido, María-Jesús, Mohamed, Wael M.Y.
Publicado 2015

Automated semantic annotation of rare disease cases: a case study

por Taboada, Maria, Rodríguez, Hadriana, Martínez, Diego, Pardo, María, Sobrido, María Jesús
Publicado 2014

Automated semantic annotation of rare disease cases: a case study

por Taboada, Maria, Rodríguez, Hadriana, Martínez, Diego, Pardo, María, Sobrido, María Jesús
Publicado 2015

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA)

por Maarouf, Haitham, Taboada, María, Rodriguez, Hadriana, Arias, Manuel, Sesar, Ángel, Sobrido, María Jesús
Publicado 2017

Zebrafish Models of Autosomal Dominant Ataxias

por Quelle-Regaldie, Ana, Sobrido-Cameán, Daniel, Barreiro-Iglesias, Antón, Sobrido, María Jesús, Sánchez, Laura
Publicado 2021

Zebrafish Models of Autosomal Recessive Ataxias

por Quelle-Regaldie, Ana, Sobrido-Cameán, Daniel, Barreiro-Iglesias, Antón, Sobrido, María Jesús, Sánchez, Laura
Publicado 2021

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

por Castro-Fernández, Cristina, Arias, Manuel, Blanco-Arias, Patricia, Santomé-Collazo, Luis, Amigo, Jorge, Carracedo, Ángel, Sobrido, Maria-Jesús
Publicado 2015

Two-stage case-control association study of dopamine-related genes and migraine

por Corominas, Roser, Ribases, Marta, Camiña, Montserrat, Cuenca-León, Ester, Pardo, Julio, Boronat, Susana, Sobrido, María-Jesús, Cormand, Bru, Macaya, Alfons
Publicado 2009

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

por Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J
Publicado 2019

A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype

por Quelle-Regaldie, Ana, Folgueira, Mónica, Yáñez, Julián, Sobrido-Cameán, Daniel, Alba-González, Anabel, Barreiro-Iglesias, Antón, Sobrido, María-Jesús, Sánchez, Laura
Publicado 2022

Severe neurometabolic phenotype in npc1(−/−) zebrafish with a C-terminal mutation

por 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
Publicado 2023

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

por 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 GH
Publicado 2010

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

por Carreño, Oriel, Corominas, Roser, Serra, Selma Angèlica, Sintas, Cèlia, Fernández-Castillo, Noèlia, Vila-Pueyo, Marta, Toma, Claudio, Gené, Gemma G, Pons, Roser, Llaneza, Miguel, Sobrido, María-Jesús, Grinberg, Daniel, Valverde, Miguel Ángel, Fernández-Fernández, José Manuel, Macaya, Alfons, Cormand, Bru
Publicado 2013

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

por 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.
Publicado 2012

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

por Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, 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
Publicado 2015