The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

The GGGGCC (G(4)C(2)) repeat expansion in C9ORF72 is the most common cause of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and ALS–FTLD, as well as contributing to sporadic forms of these diseases. Screening of large cohorts of ALS and FTLD cohorts has identifie...

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Detalles Bibliográficos
Autores principales: Cooper-Knock, Johnathan, Shaw, Pamela J., Kirby, Janine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925297/
https://www.ncbi.nlm.nih.gov/pubmed/24493408
http://dx.doi.org/10.1007/s00401-014-1251-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925297/
https://www.ncbi.nlm.nih.gov/pubmed/24493408
http://dx.doi.org/10.1007/s00401-014-1251-9

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