Publicacions
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
EUROPEAN JOURNAL OF HUMAN GENETICS . : .
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Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Exposito-Escudero JM, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R and Mercuri E.
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
EUROPEAN JOURNAL OF NEUROLOGY . : .