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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurobiol Dis
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Mynediad Ar-lein: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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