Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

OBJECTIVE: The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-relevant genes would have a significant impact on disease subclassification and clinical care. METHODS: We perform...

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Detalles Bibliográficos
Autores principales: Shepheard, Stephanie R, Parker, Matthew D, Cooper-Knock, Johnathan, Verber, Nick S, Tuddenham, Lee, Heath, Paul, Beauchamp, Nick, Place, Elsie, Sollars, Elizabeth S A, Turner, Martin R, Malaspina, Andrea, Fratta, Pietro, Hewamadduma, Channa, Jenkins, Thomas M, McDermott, Christopher J, Wang, Dennis, Kirby, Janine, Shaw, Pamela J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Neurodegeneration
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053339/
https://www.ncbi.nlm.nih.gov/pubmed/33589474
http://dx.doi.org/10.1136/jnnp-2020-325014

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