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Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort

OBJECTIVE: To determine the incidence of amyotrophic lateral sclerosis (ALS) genetic variants in a clinic-based population. METHODS: A prospective cohort of patients with definite or probable ALS was offered genetic testing using a testing algorithm based on family history and age at onset. RESULTS:...

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Detalles Bibliográficos
Autores principales: Roggenbuck, Jennifer, Palettas, Marilly, Vicini, Leah, Patel, Radha, Quick, Adam, Kolb, Stephen J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984133/
https://www.ncbi.nlm.nih.gov/pubmed/32042918
http://dx.doi.org/10.1212/NXG.0000000000000390