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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2022
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Materias: | |
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 |
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