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Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS

Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To test if genetic variants in UBQLN1 are involved in ALS. METHODS: 102 and 94 unrelated patients with famili...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurobiol Dis
Egile Nagusiak: González-Pérez, Paloma, Lu, Yubing, Chian, Ru-Ju, Sapp, Peter C., Tanzi, Rudolph E., Bertram, Lars, McKenna-Yasek, Diane, Gao, Fen-Biao, Brown, Robert H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2012
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245016/
https://ncbi.nlm.nih.gov/pubmed/22766032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2012.06.018
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