Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease of motor neurons with a median survival of 2 years. Familial ALS has a younger age of onset than apparently sporadic ALS. We sought to determine whether this younger age of onset is a result of ascertai...

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Detalles Bibliográficos
Autores principales: Mehta, Puja R, Jones, Ashley R, Opie-Martin, Sarah, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Smith, Bradley N, Topp, Simon, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Morgan, Sarah, Pittman, Alan, Al-Chalabi, Ammar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Neurodegeneration
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518463/
https://www.ncbi.nlm.nih.gov/pubmed/30270202
http://dx.doi.org/10.1136/jnnp-2018-319089

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