Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
Open Access
- 10 August 2012
- journal article
- case report
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 91 (2), 313-319
- https://doi.org/10.1016/j.ajhg.2012.07.002
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Consensus Statement of the Movement Disorder Society on TremorMovement Disorders, 2008
- A functional variant of the dopamine D 3 receptor is associated with risk and age-at-onset of essential tremorProceedings of the National Academy of Sciences of the United States of America, 2006
- Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex diseaseNature Genetics, 2003
- Symmetrical dimethylation of arginine residues in spliceosomal Sm protein B/B′ and the Sm-like protein LSm4, and their interaction with the SMN proteinRNA, 2001
- Essential tremor: an overdiagnosed condition?Zeitschrift für Neurologie, 2000
- Male sterility and enhanced radiation sensitivity in TLS-/- miceThe EMBO Journal, 2000
- Diagnostic Criteria for Essential TremorArchives of Neurology, 1998
- A gene (ETM) for essential tremor maps to chromosome 2p22‐p25Movement Disorders, 1997
- A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in VitroJournal of Biological Chemistry, 1995
- Rapid Voice Tremor, or “Flutter,” in Amyotrophic Lateral SclerosisAnnals of Otology, Rhinology & Laryngology, 1992