VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
Open Access
- 7 September 2012
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 91 (3), 548-552
- https://doi.org/10.1016/j.ajhg.2012.07.018
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- The role of Synaptobrevin1/VAMP1 in Ca2+‐triggered neurotransmitter release at the mouse neuromuscular junctionThe Journal of Physiology, 2011
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyondThe Lancet Neurology, 2010
- Identification of a novel Vamp1 splice variant in the cochlear nucleusHearing Research, 2008
- A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutantneurogenetics, 2006
- Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studiesFamilial Cancer, 2006
- A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsyAmerican Journal of Medical Genetics, 2004
- A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13American Journal of Human Genetics, 2002
- VAMP-1 Has a Highly Variable C-Terminus Generated by Alternative SplicingBiochemical and Biophysical Research Communications, 1999
- Improved Splice Site Detection in GenieJournal of Computational Biology, 1997
- The synaptic vesicle cycle: a cascade of protein–protein interactionsNature, 1995