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Listar por palabra clave "Spinal muscular atrophy"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por palabra clave "Spinal muscular atrophy"

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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 ...
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    Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy 
    Vázquez-Costa, Juan F.; Povedano, Mónica; Nascimiento-Osorio, Andrés E.; Moreno Escribano, Antonio; Kapetanovic Garcia, Solange; Dominguez, Raúl; Exposito, Jessica M.; González, Laura; Marco, Carla; Medina Castillo, Julita; Muelas, Nuria; Natera de Benito, Daniel; Ñungo Garzón, Nancy Carolina; Pitarch Castellano, Inmaculada; Sevilla, Teresa; Hervás-Marín, David (Blackwell Publishing, 2022-12)
    [EN] Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness ...