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Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

INTRODUCTION: Respiratory insufficiency is the main cause of death in amyotrophic lateral sclerosis (ALS). As the C9orf72 repeat expansion represents the most common genetic risk factor for this disease, we studied whether C9orf72 modulates respiratory function and survival. METHODS: Demographic and...

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Detalles Bibliográficos
Autores principales: Miltenberger-Miltenyi, Gabriel, Conceição, Vasco A., Gromicho, Marta, Pronto-Laborinho, Ana Catarina, Pinto, Susana, de Carvalho, Mamede
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8480787/
http://dx.doi.org/10.1080/07853890.2021.1896231