Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

BACKGROUND: In familial amyotrophic lateral sclerosis (ALS) cases, the presence of an abnormal C9ORF72 repeat expansion (C9RE) is the most frequent genetic cause identified. Various clinical phenotypes have been described in relation to the presence of C9RE, including psychiatric disorders or Huntin...

Descripción completa

Detalles Bibliográficos
Autores principales: Esselin, Florence, Mouzat, Kevin, Polge, Anne, Juntas-Morales, Raul, Pageot, Nicolas, De la Cruz, Elisa, Bernard, Emilien, Lagrange, Emmeline, Danel, Véronique, Alphandery, Sébastien, Labar, Laura, Nogué, Erika, Picot, Marie-Christine, Lumbroso, Serge, Camu, William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199526/
https://www.ncbi.nlm.nih.gov/pubmed/32410933
http://dx.doi.org/10.3389/fnins.2020.00316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199526/
https://www.ncbi.nlm.nih.gov/pubmed/32410933
http://dx.doi.org/10.3389/fnins.2020.00316

Ejemplares similares