SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

IMPORTANCE: Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1...

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Detalhes bibliográficos
Main Authors: Le Ber, Isabelle, Camuzat, Agnès, Guerreiro, Rita, Bouya-Ahmed, Kawtar, Bras, Jose, Nicolas, Gael, Gabelle, Audrey, Didic, Mira, De Septenville, Anne, Millecamps, Stéphanie, Lenglet, Timothée, Latouche, Morwena, Kabashi, Edor, Campion, Dominique, Hannequin, Didier, Hardy, John, Brice, Alexis
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4199096/
https://ncbi.nlm.nih.gov/pubmed/24042580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.3849
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