Case report: p.Glu134del SOD1 mutation in two apparently unrelated ALS patients with mirrored phenotype

With upcoming personalized approaches based on genetics, it is important to report new mutations in amyotrophic lateral sclerosis (ALS) genes in order to understand their pathogenicity and possible patient responses to specific therapies. SOD1 mutations are the second most frequent genetic cause of...

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Detalles Bibliográficos
Autores principales: Gianferrari, Giulia, Martinelli, Ilaria, Simonini, Cecilia, Zucchi, Elisabetta, Fini, Nicola, Carra, Serena, Moglia, Cristina, Mandrioli, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846158/
https://www.ncbi.nlm.nih.gov/pubmed/36686515
http://dx.doi.org/10.3389/fneur.2022.1052341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9846158/
https://www.ncbi.nlm.nih.gov/pubmed/36686515
http://dx.doi.org/10.3389/fneur.2022.1052341

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