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Louis Mandel

Showing results (121-130 of 221) with videos related to

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European Journal of Human Genetics : EJHG|December 25, 2003
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesElisabeth Flori, Valérie Biancalana, Françoise Girard-Lemaire, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 23, 2013
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathwaysLama Al-Qusairi, Ivana Prokic, Leonela Amoasii, et al.
Medecine Sciences : M/S|November 15, 2006
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]Hélène Dollfus, Jean Muller, Corinne Stoetzel, et al.
The Journal of Biological Chemistry|December 9, 2003
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cellsHélène Tronchère, Jocelyn Laporte, Caroline Pendaries, et al.
Clinical Genetics|July 13, 2022
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromesBenjamin Durand, Elise Schaefer, Pauline Burger, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 23, 2002
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceAnna Buj-Bello, Vincent Laugel, Nadia Messaddeq, et al.
Developmental Biology|September 24, 2004
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivityAnnette Schenck, Abrar Qurashi, Pilar Carrera, et al.
Human Molecular Genetics|September 10, 2002
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cellsAnna Buj-Bello, Denis Furling, Hélène Tronchère, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 27, 2004
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse modelDominique Helmlinger, Gretta Abou-Sleymane, Gaël Yvert, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in FranceValérie Biancalana, Chérif Beldjord, Agnès Taillandier, et al.
Pageof 23

Showing results (121-130 of 221) with videos related to

Sort By:
Pageof 23
European Journal of Human Genetics : EJHG|December 25, 2003
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesElisabeth Flori, Valérie Biancalana, Françoise Girard-Lemaire, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 23, 2013
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathwaysLama Al-Qusairi, Ivana Prokic, Leonela Amoasii, et al.
Medecine Sciences : M/S|November 15, 2006
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]Hélène Dollfus, Jean Muller, Corinne Stoetzel, et al.
The Journal of Biological Chemistry|December 9, 2003
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cellsHélène Tronchère, Jocelyn Laporte, Caroline Pendaries, et al.
Clinical Genetics|July 13, 2022
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromesBenjamin Durand, Elise Schaefer, Pauline Burger, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 23, 2002
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceAnna Buj-Bello, Vincent Laugel, Nadia Messaddeq, et al.
Developmental Biology|September 24, 2004
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivityAnnette Schenck, Abrar Qurashi, Pilar Carrera, et al.
Human Molecular Genetics|September 10, 2002
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cellsAnna Buj-Bello, Denis Furling, Hélène Tronchère, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 27, 2004
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse modelDominique Helmlinger, Gretta Abou-Sleymane, Gaël Yvert, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in FranceValérie Biancalana, Chérif Beldjord, Agnès Taillandier, et al.
Pageof 23