Affiliation: Mount Sinai School of Medicine
- Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control studyInga Peter
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 USA
BMC Med Genet 12:63. 2011..We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population...
- Phenotypic features of myoclonus-dystonia in three kindredsD O Doheny
Department of Neurology, Mount Sinai School of Medicine, Annenberg 14 51A, Box 1052, New York, NY 10029, USA
Neurology 59:1187-96. 2002..Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family)...
- Clinical findings of a myoclonus-dystonia family with two distinct mutationsD Doheny
Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
Neurology 59:1244-6. 2002..Further analysis of these mutations separately and together in cell culture and in animal models should clarify their functional consequences...
- Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonismJ C Leung
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
Neurogenetics 3:133-43. 2001..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...