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Louis Mandel

Showing results (141-150 of 221) with videos related to

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Human Molecular Genetics|February 11, 2005
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblastsMarie Castets, Céline Schaeffer, Elias Bechara, et al.
Journal of Human Genetics|November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome familiesCorinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.
Neuromuscular Disorders : NMD|March 24, 2009
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2HMireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, et al.
European Journal of Pediatrics|July 21, 2007
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonatesVincent Laugel, Mireille Cossée, Jacqueline Matis, et al.
Human Molecular Genetics|September 30, 2006
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathyValérie Tosch, Holger M Rohde, Hélène Tronchère, et al.
EMBO Molecular Medicine|April 4, 2022
AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse modelKarima Habbas, Oktay Cakil, Boglárka Zámbó, et al.
Archives of Neurology|June 16, 2005
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophyValérie Biancalana, Mathias Toft, Isabelle Le Ber, et al.
Human Molecular Genetics|June 20, 2013
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10Fabrice A C Klein, Gabrielle Zeder-Lutz, Alexandra Cousido-Siah, et al.
Journal of Molecular Biology|June 15, 2007
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradientFabrice A C Klein, Annalisa Pastore, Laura Masino, et al.
Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.
Pageof 23

Showing results (141-150 of 221) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|February 11, 2005
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblastsMarie Castets, Céline Schaeffer, Elias Bechara, et al.
Journal of Human Genetics|November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome familiesCorinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.
Neuromuscular Disorders : NMD|March 24, 2009
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2HMireille Cossée, Clotilde Lagier-Tourenne, Claire Seguela, et al.
European Journal of Pediatrics|July 21, 2007
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonatesVincent Laugel, Mireille Cossée, Jacqueline Matis, et al.
Human Molecular Genetics|September 30, 2006
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathyValérie Tosch, Holger M Rohde, Hélène Tronchère, et al.
EMBO Molecular Medicine|April 4, 2022
AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse modelKarima Habbas, Oktay Cakil, Boglárka Zámbó, et al.
Archives of Neurology|June 16, 2005
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophyValérie Biancalana, Mathias Toft, Isabelle Le Ber, et al.
Human Molecular Genetics|June 20, 2013
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10Fabrice A C Klein, Gabrielle Zeder-Lutz, Alexandra Cousido-Siah, et al.
Journal of Molecular Biology|June 15, 2007
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradientFabrice A C Klein, Annalisa Pastore, Laura Masino, et al.
Human Molecular Genetics|November 27, 2018
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disabilityFrancesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, et al.
Pageof 23