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S Jacquemont

Showing results (11-20 of 28) with videos related to

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Brain : a Journal of Neurology|July 24, 2002
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersC M Greco, R J Hagerman, F Tassone, et al.
Neurology|July 27, 2005
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)D A Hall, E Berry-Kravis, S Jacquemont, et al.
Journal of Medical Genetics|February 4, 2005
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?S Jacquemont, A Orrico, L Galli, et al.
American Journal of Mental Retardation : AJMR|March 6, 2004
Aging in individuals with the FMR1 mutationS Jacquemont, F Farzin, D Hall, et al.
Journal of Medical Genetics|August 6, 2002
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotypeL Faivre, V Cormier-Daire, J M Lapierre, et al.
Genes, Brain, and Behavior|April 3, 2012
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTASF Tassone, C M Greco, M R Hunsaker, et al.
Journal of Medical Genetics|June 23, 2009
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutationM Sévin, Z Kutalik, S Bergman, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneA Orrico, L Galli, L Faivre, et al.
Neurology|December 7, 2007
FMR1 CGG repeat length predicts motor dysfunction in premutation carriersM A Leehey, E Berry-Kravis, C G Goetz, et al.
Clinical Genetics|January 6, 2011
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?M Krahn, M Goicoechea, F Hanisch, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Brain : a Journal of Neurology|July 24, 2002
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriersC M Greco, R J Hagerman, F Tassone, et al.
Neurology|July 27, 2005
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)D A Hall, E Berry-Kravis, S Jacquemont, et al.
Journal of Medical Genetics|February 4, 2005
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?S Jacquemont, A Orrico, L Galli, et al.
American Journal of Mental Retardation : AJMR|March 6, 2004
Aging in individuals with the FMR1 mutationS Jacquemont, F Farzin, D Hall, et al.
Journal of Medical Genetics|August 6, 2002
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotypeL Faivre, V Cormier-Daire, J M Lapierre, et al.
Genes, Brain, and Behavior|April 3, 2012
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTASF Tassone, C M Greco, M R Hunsaker, et al.
Journal of Medical Genetics|June 23, 2009
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutationM Sévin, Z Kutalik, S Bergman, et al.
American Journal of Medical Genetics. Part A|January 19, 2010
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 geneA Orrico, L Galli, L Faivre, et al.
Neurology|December 7, 2007
FMR1 CGG repeat length predicts motor dysfunction in premutation carriersM A Leehey, E Berry-Kravis, C G Goetz, et al.
Clinical Genetics|January 6, 2011
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?M Krahn, M Goicoechea, F Hanisch, et al.
Pageof 3