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Philippe Latour

Showing results (41-50 of 74) with videos related to

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Neuromuscular Disorders : NMD|May 6, 2014
Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A diseaseStéphane Mathis, Philippe Corcia, Meriem Tazir, et al.
JAMA Neurology|June 25, 2014
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic featuresFrancesco Bombelli, Tanya Stojkovic, Odile Dubourg, et al.
Journal of the Peripheral Nervous System : JPNS|May 27, 2025
A Case Series of Unilateral Peripheral NeuropathyCaroline Kramarz, Marion Masingue, Françoise Bouhour, et al.
Neurology|September 13, 2013
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseAndoni Echaniz-Laguna, Daniele Ghezzi, Maïté Chassagne, et al.
Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
International Journal of Molecular Sciences|April 27, 2024
The <i>Hexokinase 1</i> 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium BufferingMaria Ceprian, Raul Juntas-Morales, Graham Campbell, et al.
Molecular Genetics and Metabolism|June 25, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewMarie T Vanier, Paul Gissen, Peter Bauer, et al.
Plos One|July 28, 2017
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMagali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
American Journal of Human Genetics|January 5, 2010
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth diseasePhilippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, et al.
Journal of Neurology|November 2, 2013
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C diseaseMathieu Anheim, Ouhaïd Lagha-Boukbiza, Marie-Céline Fleury-Lesaunier, et al.
Pageof 8

Showing results (41-50 of 74) with videos related to

Sort By:
Pageof 8
Neuromuscular Disorders : NMD|May 6, 2014
Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A diseaseStéphane Mathis, Philippe Corcia, Meriem Tazir, et al.
JAMA Neurology|June 25, 2014
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic featuresFrancesco Bombelli, Tanya Stojkovic, Odile Dubourg, et al.
Journal of the Peripheral Nervous System : JPNS|May 27, 2025
A Case Series of Unilateral Peripheral NeuropathyCaroline Kramarz, Marion Masingue, Françoise Bouhour, et al.
Neurology|September 13, 2013
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseAndoni Echaniz-Laguna, Daniele Ghezzi, Maïté Chassagne, et al.
Neurology|May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathyAndoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
International Journal of Molecular Sciences|April 27, 2024
The <i>Hexokinase 1</i> 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium BufferingMaria Ceprian, Raul Juntas-Morales, Graham Campbell, et al.
Molecular Genetics and Metabolism|June 25, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewMarie T Vanier, Paul Gissen, Peter Bauer, et al.
Plos One|July 28, 2017
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseMagali Pettazzoni, Roseline Froissart, Cécile Pagan, et al.
American Journal of Human Genetics|January 5, 2010
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth diseasePhilippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, et al.
Journal of Neurology|November 2, 2013
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C diseaseMathieu Anheim, Ouhaïd Lagha-Boukbiza, Marie-Céline Fleury-Lesaunier, et al.
Pageof 8