A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenti...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Alzheimers Dis
Egile Nagusiak: Boutoleau-Bretonnière, Claire, Camuzat, Agnès, Ber, Isabelle Le, Bouya-Ahmed, Kawtar, Guerreiro, Rita, Deruet, Anne-Laure, Evrard, Christelle, Bras, José, Lamy, Estelle, Auffray-Calvier, Elisabeth, Pallardy, Amandine, Hardy, John, Brice, Alexis, Derkinderen, Pascal, Vercelletto, Martine
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4337967/
https://ncbi.nlm.nih.gov/pubmed/25114083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JAD-141512
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak