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Judith Melki

Showing results (11-20 of 79) with videos related to

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Advances in Experimental Medicine and Biology|March 13, 2010
Spinal muscular atrophyJérémie Vitte, Ruben Attali, Nasim Warwar, et al.
Muscle & Nerve|September 25, 2003
Riluzole attenuates spinal muscular atrophy disease progression in a mouse modelHafedh Haddad, Carmen Cifuentes-Diaz, Audrey Miroglio, et al.
Prenatal Diagnosis|July 6, 2022
State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformationsAxelle Gillet de Thorey, Augustin Ozanne, Judith Melki, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Three independent mutations in the TSC2 gene in a family with tuberous sclerosisCédric Le Caignec, David J Kwiatkowski, Sébastien Küry, et al.
Physiological Genomics|August 25, 2005
Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMNRobert Olaso, Vandana Joshi, Julien Fernandez, et al.
Journal of Neurology|May 8, 2002
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron diseaseAndoni Echaniz-Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant, et al.
Human Molecular Genetics|December 20, 2002
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleusDelphine Charvin, Carmen Cifuentes-Diaz, Nuria Fonknechten, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|October 4, 2003
Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capabilitySerge Luquet, Joaquin Lopez-Soriano, Dorte Holst, et al.
Human Molecular Genetics|May 23, 2003
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophyJeanne-Claire Lesbordes, Carmen Cifuentes-Diaz, Audrey Miroglio, et al.
American Journal of Medical Genetics. Part A|June 10, 2022
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenitaMathilde Weber, Dana Jaber, Ferechte Encha-Razavi, et al.
Pageof 8

Showing results (11-20 of 79) with videos related to

Sort By:
Pageof 8
Advances in Experimental Medicine and Biology|March 13, 2010
Spinal muscular atrophyJérémie Vitte, Ruben Attali, Nasim Warwar, et al.
Muscle & Nerve|September 25, 2003
Riluzole attenuates spinal muscular atrophy disease progression in a mouse modelHafedh Haddad, Carmen Cifuentes-Diaz, Audrey Miroglio, et al.
Prenatal Diagnosis|July 6, 2022
State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformationsAxelle Gillet de Thorey, Augustin Ozanne, Judith Melki, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Three independent mutations in the TSC2 gene in a family with tuberous sclerosisCédric Le Caignec, David J Kwiatkowski, Sébastien Küry, et al.
Physiological Genomics|August 25, 2005
Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMNRobert Olaso, Vandana Joshi, Julien Fernandez, et al.
Journal of Neurology|May 8, 2002
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron diseaseAndoni Echaniz-Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant, et al.
Human Molecular Genetics|December 20, 2002
Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleusDelphine Charvin, Carmen Cifuentes-Diaz, Nuria Fonknechten, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|October 4, 2003
Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capabilitySerge Luquet, Joaquin Lopez-Soriano, Dorte Holst, et al.
Human Molecular Genetics|May 23, 2003
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophyJeanne-Claire Lesbordes, Carmen Cifuentes-Diaz, Audrey Miroglio, et al.
American Journal of Medical Genetics. Part A|June 10, 2022
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenitaMathilde Weber, Dana Jaber, Ferechte Encha-Razavi, et al.
Pageof 8