Systematic evaluation of genetic mutations in ALS: a population-based study

BACKGROUND: A genetic diagnosis in Amyotrophic Lateral Sclerosis (ALS) can inform genetic counselling, prognosis and, in the light of incoming gene-targeted therapy, management. However, conventional genetic testing strategies are often costly and time-consuming. OBJECTIVE: To evaluate the diagnosti...

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Detalles Bibliográficos
Autores principales: Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Sbaiz, Luca, Brunetti, Maura, Barberis, Marco, Casale, Federico, Manera, Umberto, Vasta, Rosario, Canosa, Antonio, D’Alfonso, Sandra, Corrado, Lucia, Mazzini, Letizia, Dalgard, Clifton, Karra, Ramita, Chia, Ruth, Traynor, Bryan, Chiò, Adriano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606529/
https://www.ncbi.nlm.nih.gov/pubmed/35896380
http://dx.doi.org/10.1136/jnnp-2022-328931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606529/
https://www.ncbi.nlm.nih.gov/pubmed/35896380
http://dx.doi.org/10.1136/jnnp-2022-328931

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