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Neuromuscular Disorders : NMD
|
March 17, 2004
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
Tanya Stojkovic, Philippe Latour, Ghislaine Viet, et al.
Neuromuscular Disorders : NMD
|
May 2, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
Anne Vital, Philippe Latour, Guilhem Sole, et al.
Brain : a Journal of Neurology
|
March 24, 2017
High intra-familiar clinical variability in MORC2 mutated CMT2 patients
Claudio Semplicini, Elisabeth Ollagnon-Roman, Sarah Leonard-Louis, et al.
Journal of Neurology
|
September 26, 2022
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
Gorka Fernández-Eulate, Rabab Debs, Thierry Maisonobe, et al.
Neuropediatrics
|
March 17, 2022
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population
Eloïse Baudou, Claude Cances, Corinne Magdelaine, et al.
Journal of Neuroimmunology
|
June 1, 2024
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy
Antoine Pegat, Jean-Baptiste Chanson, Pierre Lozeron, et al.
Neurology. Genetics
|
August 23, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases
Edouard Berling, Philippe Latour, Klervie Loiselet, et al.
Neurogenetics
|
May 29, 2009
U1 snRNA mis-binding: a new cause of CMT1B
Hervé Crehalet, Philippe Latour, Véronique Bonnet, et al.
Journal of the Peripheral Nervous System : JPNS
|
February 9, 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature
Justine Lerat, Corinne Magdelaine, Hélène Beauvais-Dzugan, et al.
Neuromuscular Disorders : NMD
|
June 27, 2020
Confounding clinical presentation and different disease progression in CMT4B1
Raquel Guimarães-Costa, Rocio-Nur Villar-Quiles, Philippe Latour, et al.
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Search research articles
Search
Showing results (21-30 of 74) with videos related to
Sort By:
Page
of 8
Neuromuscular Disorders : NMD
|
March 17, 2004
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
Tanya Stojkovic, Philippe Latour, Ghislaine Viet, et al.
Neuromuscular Disorders : NMD
|
May 2, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
Anne Vital, Philippe Latour, Guilhem Sole, et al.
Brain : a Journal of Neurology
|
March 24, 2017
High intra-familiar clinical variability in MORC2 mutated CMT2 patients
Claudio Semplicini, Elisabeth Ollagnon-Roman, Sarah Leonard-Louis, et al.
Journal of Neurology
|
September 26, 2022
Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
Gorka Fernández-Eulate, Rabab Debs, Thierry Maisonobe, et al.
Neuropediatrics
|
March 17, 2022
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population
Eloïse Baudou, Claude Cances, Corinne Magdelaine, et al.
Journal of Neuroimmunology
|
June 1, 2024
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy
Antoine Pegat, Jean-Baptiste Chanson, Pierre Lozeron, et al.
Neurology. Genetics
|
August 23, 2024
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases
Edouard Berling, Philippe Latour, Klervie Loiselet, et al.
Neurogenetics
|
May 29, 2009
U1 snRNA mis-binding: a new cause of CMT1B
Hervé Crehalet, Philippe Latour, Véronique Bonnet, et al.
Journal of the Peripheral Nervous System : JPNS
|
February 9, 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature
Justine Lerat, Corinne Magdelaine, Hélène Beauvais-Dzugan, et al.
Neuromuscular Disorders : NMD
|
June 27, 2020
Confounding clinical presentation and different disease progression in CMT4B1
Raquel Guimarães-Costa, Rocio-Nur Villar-Quiles, Philippe Latour, et al.
Page
of 8