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Listar por palabra clave "Neuromuscular disease"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por palabra clave "Neuromuscular disease"

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    Characterizing the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations 
    Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa (BMJ, 2018-12)
    [EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
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    Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry 
    Pitarch-Castellano, Inmaculada; Hervás-Marín, David; Cattinari, Maria Grazia; Ibáñez Albert, Eugenia; López Lobato, Mercedes; Ñungo Garzón, Nancy Carolina; Rojas, Juan; Puig-Ram, Cristina; Madruga-Garrido, Marcos (MDPI AG, 2023-12)
    [EN] Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures ...