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Judith Melki

Showing results (41-50 of 79) with videos related to

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Human Molecular Genetics|November 15, 2006
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule compositionAnne Tarrade, Coralie Fassier, Sabrina Courageot, et al.
Brain : a Journal of Neurology|February 15, 2018
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformationAlexandre Vivanti, Augustin Ozanne, Cynthia Grondin, et al.
European Journal of Human Genetics : EJHG|July 5, 2007
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Judith Melki, et al.
The Journal of Cell Biology|May 14, 2003
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscleSophie Nicole, Benedicte Desforges, Gaelle Millet, et al.
Frontiers in Pediatrics|May 13, 2022
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to PhenotypeBerivan Tas, Daniele Starnoni, Stanislas Smajda, et al.
Stem Cells (Dayton, Ohio)|May 31, 2012
Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse modelMartina Piccoli, Chiara Franzin, Enrica Bertin, et al.
Stem Cells Translational Medicine|April 17, 2014
Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrityClara Steichen, Eléanor Luce, Jérôme Maluenda, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal ArthrogryposisJérôme Maluenda, Constance Manso, Loic Quevarec, et al.
Free Radical Biology & Medicine|February 17, 2010
Oxidative stress in skeletal muscle causes severe disturbance of exercise activity without muscle atrophyHirotomo Kuwahara, Tetsuro Horie, Shin Ishikawa, et al.
American Journal of Human Genetics|June 19, 2012
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, et al.
Pageof 8

Showing results (41-50 of 79) with videos related to

Sort By:
Pageof 8
Human Molecular Genetics|November 15, 2006
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule compositionAnne Tarrade, Coralie Fassier, Sabrina Courageot, et al.
Brain : a Journal of Neurology|February 15, 2018
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformationAlexandre Vivanti, Augustin Ozanne, Cynthia Grondin, et al.
European Journal of Human Genetics : EJHG|July 5, 2007
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Judith Melki, et al.
The Journal of Cell Biology|May 14, 2003
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscleSophie Nicole, Benedicte Desforges, Gaelle Millet, et al.
Frontiers in Pediatrics|May 13, 2022
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to PhenotypeBerivan Tas, Daniele Starnoni, Stanislas Smajda, et al.
Stem Cells (Dayton, Ohio)|May 31, 2012
Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse modelMartina Piccoli, Chiara Franzin, Enrica Bertin, et al.
Stem Cells Translational Medicine|April 17, 2014
Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrityClara Steichen, Eléanor Luce, Jérôme Maluenda, et al.
American Journal of Human Genetics|September 13, 2016
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal ArthrogryposisJérôme Maluenda, Constance Manso, Loic Quevarec, et al.
Free Radical Biology & Medicine|February 17, 2010
Oxidative stress in skeletal muscle causes severe disturbance of exercise activity without muscle atrophyHirotomo Kuwahara, Tetsuro Horie, Shin Ishikawa, et al.
American Journal of Human Genetics|June 19, 2012
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, et al.
Pageof 8