Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

BACKGROUND: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients. A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD. Subsequently, two unrelated patients...

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Detalles Bibliográficos
Autores principales: Cox, Laura E., Ferraiuolo, Laura, Goodall, Emily F., Heath, Paul R., Higginbottom, Adrian, Mortiboys, Heather, Hollinger, Hannah C., Hartley, Judith A., Brockington, Alice, Burness, Christine E., Morrison, Karen E., Wharton, Stephen B., Grierson, Andrew J., Ince, Paul G., Kirby, Janine, Shaw, Pamela J.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844426/
https://www.ncbi.nlm.nih.gov/pubmed/20352044
http://dx.doi.org/10.1371/journal.pone.0009872

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844426/
https://www.ncbi.nlm.nih.gov/pubmed/20352044
http://dx.doi.org/10.1371/journal.pone.0009872

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