S Tezenas du Montcel

Summary

Country: France

Publications

  1. ncbi request reprint Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
    Sophie Tezenas du Montcel
    1 Sorbonne Universités, Universite Pierre et Marie Curie UPMC Univ Paris 06, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France2 Inserm, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France3 AP HP, Groupe Hospitalier Pitie Salpetriere, Biostatistics Unit, Paris, F 75013, France
    Brain 137:2444-55. 2014
  2. pmc Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritis
    France 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
  3. pmc Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
    S Tezenas du Montcel
    Service de Biostatistique et Information Medicale, Hopital Pitie Salpetriere, AP HP, Paris, France
    J Med Genet 43:394-400. 2006
  4. doi request reprint Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy
    B Granger
    Universite Pierre et Marie Curie Paris 06, ER4, Modélisation en Recherche Clinique, 75013 Paris, France
    Hum Genet 129:149-59. 2011
  5. ncbi request reprint Disorganized somatotopy in the putamen of patients with focal hand dystonia
    C Delmaire
    Department of Neuroradiology, Hopital de la Pitie Salpetriere, Paris, France
    Neurology 64:1391-6. 2005
  6. doi request reprint 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
  7. ncbi request reprint Candidate gene studies in focal dystonia
    D Sibbing
    Department of Neurology, Philipps University, Marburg, Germany
    Neurology 61:1097-101. 2003

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
    Sophie Tezenas du Montcel
    1 Sorbonne Universités, Universite Pierre et Marie Curie UPMC Univ Paris 06, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France2 Inserm, UMR_S 1136, Institut Pierre Louis d Epidémiologie et de Santé Publique, F 75013, Paris, France3 AP HP, Groupe Hospitalier Pitie Salpetriere, Biostatistics Unit, Paris, F 75013, France
    Brain 137:2444-55. 2014
    ..As the variability in age at onset is not completely explained by the effects of the causative and modifier sister genes, other genetic or environmental factors must also play a role in these diseases. ..
  2. pmc Modeling of PTPN22 and HLA-DRB1 susceptibility to rheumatoid arthritis
    France 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...
  3. pmc Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
    S 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...
  4. doi request reprint Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy
    B 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...
  5. ncbi request reprint Disorganized somatotopy in the putamen of patients with focal hand dystonia
    C Delmaire
    Department of Neuroradiology, Hopital de la Pitie Salpetriere, Paris, France
    Neurology 64:1391-6. 2005
    ..To explore the selectivity of neuronal somatotopic representation in the striatum of patients with unilateral task-specific dystonia of the right arm...
  6. doi request reprint 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...
  7. ncbi request reprint Candidate gene studies in focal dystonia
    D 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...