S Tezenas du Montcel
- Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritisFrance Gagnon
Department of Public Health Sciences, Faculty of Medicine, University of Toronto, 155 College Street, Toronto, Ontario, M5T 3M7, Canada
BMC Proc 1:S14. 2007..In conclusion, PTPN22 R620W SNP is a risk factor for rheumatoid arthritis. The genetic architecture of the HLA-DRB1 locus is highly complex, and more elaborate modeling of this locus is required...
- Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromesS Tezenas du Montcel
Service de Biostatistique et Information Medicale, Hopital Pitie Salpetriere, AP HP, Paris, France
J Med Genet 43:394-400. 2006..Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21...
- Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophyB Granger
Universite Pierre et Marie Curie Paris 06, ER4, Modélisation en Recherche Clinique, 75013 Paris, France
Hum Genet 129:149-59. 2011..These results provide important highlights for the natural history and for the physiopathology of Emery-Dreifuss muscular dystrophy...
- Does clinical rapid eye movement behavior disorder predict worse outcomes in Parkinson's disease?S Lavault
Unité des pathologies du sommeil, Assistance Publique Hopitaux de Paris APHP, Paris, France
J Neurol 257:1154-9. 2010..The fluctuation and disappearance of clinical RBD in some patients may be due to functional abnormalities rather than lesions...
- Candidate gene studies in focal dystoniaD Sibbing
Department of Neurology, Philipps University, Marburg, Germany
Neurology 61:1097-101. 2003..Mutations in the DYT1 gene can cause focal dystonia, and an association with a polymorphism in the D5 receptor gene (DRD5) has been reported but not confirmed...