Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral...

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Détails bibliographiques
Auteurs principaux: Cooper-Knock, Johnathan, Hewitt, Christopher, Highley, J. Robin, Brockington, Alice, Milano, Antonio, Man, Somai, Martindale, Joanne, Hartley, Judith, Walsh, Theresa, Gelsthorpe, Catherine, Baxter, Lynne, Forster, Gillian, Fox, Melanie, Bury, Joanna, Mok, Kin, McDermott, Christopher J., Traynor, Bryan J., Kirby, Janine, Wharton, Stephen B., Ince, Paul G., Hardy, John, Shaw, Pamela J.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2012
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286332/
https://ncbi.nlm.nih.gov/pubmed/22366792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr365
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