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Judith Melki

Showing results (21-30 of 79) with videos related to

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Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 16, 2019
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal TwinsEnrica Marchionni, Aurélie Méneret, Boris Keren, et al.
American Journal of Human Genetics|September 15, 2015
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe ArthrogryposisDan Mejlachowicz, Flora Nolent, Jérome Maluenda, et al.
Neuromuscular Disorders : NMD|April 28, 2022
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1BBenjamin Kamien, Joshua S Clayton, Han-Shin Lee, et al.
Clinical Genetics|July 11, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathyYline Capri, Lucas Bourmance, Céline Dupont, et al.
Neuromuscular Disorders : NMD|December 12, 2001
90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The NetherlandsLuciano Merlini, Brigitte Estournet-Mathiaud, Susan Iannaccone, et al.
Human Molecular Genetics|June 23, 2009
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposisRuben Attali, Nasim Warwar, Ariel Israel, et al.
Stem Cells Translational Medicine|February 5, 2015
An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomyClara Steichen, Jérôme Maluenda, Lucie Tosca, et al.
Stem Cells (Dayton, Ohio)|August 5, 2006
Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophyNouzha Salah-Mohellibi, Gaelle Millet, Isabelle André-Schmutz, et al.
The American Journal of Pathology|August 25, 2007
Refined characterization of the expression and stability of the SMN gene productsJérémie Vitte, Coralie Fassier, Francesco D Tiziano, et al.
Human Molecular Genetics|May 25, 2002
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse modelCarmen Cifuentes-Diaz, Sophie Nicole, Maria E Velasco, et al.
Pageof 8

Showing results (21-30 of 79) with videos related to

Sort By:
Pageof 8
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 16, 2019
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal TwinsEnrica Marchionni, Aurélie Méneret, Boris Keren, et al.
American Journal of Human Genetics|September 15, 2015
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe ArthrogryposisDan Mejlachowicz, Flora Nolent, Jérome Maluenda, et al.
Neuromuscular Disorders : NMD|April 28, 2022
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1BBenjamin Kamien, Joshua S Clayton, Han-Shin Lee, et al.
Clinical Genetics|July 11, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathyYline Capri, Lucas Bourmance, Céline Dupont, et al.
Neuromuscular Disorders : NMD|December 12, 2001
90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The NetherlandsLuciano Merlini, Brigitte Estournet-Mathiaud, Susan Iannaccone, et al.
Human Molecular Genetics|June 23, 2009
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposisRuben Attali, Nasim Warwar, Ariel Israel, et al.
Stem Cells Translational Medicine|February 5, 2015
An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomyClara Steichen, Jérôme Maluenda, Lucie Tosca, et al.
Stem Cells (Dayton, Ohio)|August 5, 2006
Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophyNouzha Salah-Mohellibi, Gaelle Millet, Isabelle André-Schmutz, et al.
The American Journal of Pathology|August 25, 2007
Refined characterization of the expression and stability of the SMN gene productsJérémie Vitte, Coralie Fassier, Francesco D Tiziano, et al.
Human Molecular Genetics|May 25, 2002
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse modelCarmen Cifuentes-Diaz, Sophie Nicole, Maria E Velasco, et al.
Pageof 8