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Neuromuscular Disorders : NMD
|
September 10, 2013
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
Stéphanie Bauché, Delphine Boerio, Claire-Sophie Davoine, et al.
Neurology
|
October 25, 2013
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Karine Auré, Odile Dubourg, Claude Jardel, et al.
Diabetes Care
|
October 7, 2015
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations
Jacques Beltrand, Caroline Elie, Kanetee Busiah, et al.
Journal De La Societe De Biologie
|
August 24, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.
Human Molecular Genetics
|
October 22, 2004
MUSK, a new target for mutations causing congenital myasthenic syndrome
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.
Human Mutation
|
February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
European Journal of Neurology
|
April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome
Rocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
American Journal of Human Genetics
|
July 28, 2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
Caroline Huzé, Stéphanie Bauché, Pascale Richard, et al.
Acta Neuropathologica
|
August 10, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Arnaud Jacquier, Valérie Risson, Thomas Simonet, et al.
Annals of Clinical and Translational Neurology
|
December 28, 2020
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Mélanie Annoussamy, Andreea M Seferian, Aurore Daron, et al.
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of 6
Search research articles
Search
Showing results (41-50 of 57) with videos related to
Sort By:
Page
of 6
Neuromuscular Disorders : NMD
|
September 10, 2013
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
Stéphanie Bauché, Delphine Boerio, Claire-Sophie Davoine, et al.
Neurology
|
October 25, 2013
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Karine Auré, Odile Dubourg, Claude Jardel, et al.
Diabetes Care
|
October 7, 2015
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations
Jacques Beltrand, Caroline Elie, Kanetee Busiah, et al.
Journal De La Societe De Biologie
|
August 24, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.
Human Molecular Genetics
|
October 22, 2004
MUSK, a new target for mutations causing congenital myasthenic syndrome
Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.
Human Mutation
|
February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
Andoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
European Journal of Neurology
|
April 23, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome
Rocio Nur Villar-Quiles, Damien Sternberg, Grégoire Tredez, et al.
American Journal of Human Genetics
|
July 28, 2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
Caroline Huzé, Stéphanie Bauché, Pascale Richard, et al.
Acta Neuropathologica
|
August 10, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Arnaud Jacquier, Valérie Risson, Thomas Simonet, et al.
Annals of Clinical and Translational Neurology
|
December 28, 2020
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study
Mélanie Annoussamy, Andreea M Seferian, Aurore Daron, et al.
Page
of 6