KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Open Access
- 12 August 2011
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 89 (2), 219-230
- https://doi.org/10.1016/j.ajhg.2011.06.013
Abstract
No abstract availableThis publication has 30 references indexed in Scilit:
- Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisGenome Research, 2011
- Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual DisabilityAmerican Journal of Human Genetics, 2011
- Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type IAmerican Journal of Human Genetics, 2011
- Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type IAmerican Journal of Human Genetics, 2010
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlationBrain, 2009
- Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type IIJCI Insight, 2008
- PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage AnalysesAmerican Journal of Human Genetics, 2007
- The Lipid Binding Pleckstrin Homology Domain in UNC-104 Kinesin is Necessary for Synaptic Vesicle Transport inCaenorhabditis elegansMolecular Biology of the Cell, 2004
- A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perceptionHuman Molecular Genetics, 2004
- Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodMethods, 2001