Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

BACKGROUND: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients’ quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have...

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Detalles Bibliográficos
Autores principales: Kekou, Kyriaki, Svingou, Maria, Sofocleous, Christalena, Mourtzi, Niki, Nitsa, Evangelia, Konstantinidis, George, Youroukos, Sotiris, Skiadas, Konstantinos, Katsalouli, Marina, Pons, Roser, Papavasiliou, Antigoni, Kotsalis, Charalabos, Pavlou, Evangelos, Evangeliou, Athanasios, Katsarou, Efstathia, Voudris, Konstantinos, Dinopoulos, Argirios, Vorgia, Pelagia, Niotakis, George, Diamantopoulos, Nikolaos, Nakou, Iliada, Koute, Vasiliki, Vartzelis, George, Papadimas, George-Konstantinos, Papadopoulos, Constantinos, Tsivgoulis, Georgios, Traeger-Synodinos, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7836056/
https://www.ncbi.nlm.nih.gov/pubmed/32417790
http://dx.doi.org/10.3233/JND-190466

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