A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
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AbstractBackground Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known. In this study, we investigated the cause of an autosomal-dominant SCA phenotype in a family that exhibits cerebellar ataxia and pontocerebellar atrophy along with a global reduction in brain volume.
All Author(s) ListTsoi H, Yu ACS, Chen ZFS, Ng NKN, Chan AYY, Yuen LYP, Abrigo JM, Tsang SY, Tsui SKW, Tong TMF, Lo IFM, Lam STS, Mok VCT, Wong LKS, Ngo JCK, Lau KF, Chan TF, Chan HYE
Journal nameJournal of Medical Genetics
Year2014
Month9
Day1
Volume Number51
Issue Number9
PublisherBMJ PUBLISHING GROUP
Pages590 - 595
ISSN0022-2593
eISSN1468-6244
LanguagesEnglish-United Kingdom
Web of Science Subject CategoriesGenetics & Heredity; GENETICS & HEREDITY

Last updated on 2020-10-07 at 03:08