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Philippe Latour

Showing results (31-40 of 74) with videos related to

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Human Genetics|July 16, 2005
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.
Neuromuscular Disorders : NMD|April 13, 2016
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletionMaxime Jouaud, Pierre-Marie Gonnaud, Laurence Richard, et al.
Human Mutation|July 29, 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathyArnaud Jacquier, Shams Ribault, Michel Mendes, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Journal of the Peripheral Nervous System : JPNS|June 22, 2006
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsPhilippe Latour, Pierre-Marie Gonnaud, Elisabeth Ollagnon, et al.
JIMD Reports|January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in GreeceIrene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
Journal of the Peripheral Nervous System : JPNS|October 6, 2016
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutationsPhilippe Codron, Arnaud Chevrollier, Mariame S Kane, et al.
Medecine Sciences : M/S|November 13, 2018
[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]Aurélien Perrin, Philippe Latour, Vincent Procaccio, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Journal of the Peripheral Nervous System : JPNS|May 20, 2024
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French familyJulian Theuriet, Sheila Marte, Arnaud Isapof, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Human Genetics|July 16, 2005
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthaseSilke Leimkühler, Mathilde Charcosset, Philippe Latour, et al.
Neuromuscular Disorders : NMD|April 13, 2016
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletionMaxime Jouaud, Pierre-Marie Gonnaud, Laurence Richard, et al.
Human Mutation|July 29, 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathyArnaud Jacquier, Shams Ribault, Michel Mendes, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Journal of the Peripheral Nervous System : JPNS|June 22, 2006
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsPhilippe Latour, Pierre-Marie Gonnaud, Elisabeth Ollagnon, et al.
JIMD Reports|January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in GreeceIrene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.
Journal of the Peripheral Nervous System : JPNS|October 6, 2016
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutationsPhilippe Codron, Arnaud Chevrollier, Mariame S Kane, et al.
Medecine Sciences : M/S|November 13, 2018
[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]Aurélien Perrin, Philippe Latour, Vincent Procaccio, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Journal of the Peripheral Nervous System : JPNS|May 20, 2024
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French familyJulian Theuriet, Sheila Marte, Arnaud Isapof, et al.
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