Publications
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Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.
Perfil de expresión génica en la distrofia muscular congénita de Ullrich
REVISTA DE NEUROLOGIA . 2012(27): 155-312.
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Capece G, Di Feo MF, Melnik E, Dadali E, Markova T, Verloes A, Ruscitti F, Lévy J, Natera-de Benito D, Ortez-Gonzalez CI, Nascimiento A, Estévez-Arias B, Jou-Munoz C, Kurbatov S, Murtazina A, Sharkov A, Elkhateeb N, ElNaggar W, Faletra F, Mio C, Schymick J, Calvert P, Alanay Y, Isik E, Yildiz B, Bakhtiari S, Kruer MC, Roos A, Kölbel H, Darvish H, Vosoogh S, Chouery E, Mehawej C, Mégarbané A, Andoni Urtizberea J, Senghor HVF, Ndiaye M, Rodriguez Cruz PM, Bello L, Pegoraro E, Udd B and Savarese M.
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
BRAIN . : .
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Estévez-Arias B, Segarra-Casas A, Seoane P, Romo L, Polavarapu K, Nectoux J, Caballero-Ávila M, Austin-Tse C, Konyukh M, Obeid K, Hinderhofer K, Aksel-Kilicarslan O, Matalonga L, Rojano E, Ranea JA, O'Heir E, Singer-Berk M, O'Leary M, O'Donnell-Luria A, Spinazzi M, Verebi C, Leturcq F, Van Den Bergh P, Specht S, de Luna N, de Castro M, Roggenbuck J, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Ortez-Gonzalez CI, Llansó L, Hernández-Laín A, Straub V, Gallano P, Nascimento-Osorio A, Evangelista T, Olivé M, Domínguez-González C, Lochmüller H, Malfatti E, Töpf A, Gallardo E, González-Quereda L and Natera-de Benito D.
A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.
ANNALS OF NEUROLOGY . : .
