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Muscle & Nerve
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April 12, 2019
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
David Tobaly, Pascal Laforêt, Ariane Perry, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2015
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Pierre G Carlier, Noura Azzabou, Paulo Loureiro de Sousa, et al.
Human Mutation
|
December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
Nicolas Wein, Aurélie Avril, Marc Bartoli, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency
Nicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
The American Journal of Pathology
|
April 17, 2010
DNAJB2 expression in normal and diseased human and mouse skeletal muscle
Kristl G Claeys, Magdalena Sozanska, Jean-Jacques Martin, et al.
Journal of Inherited Metabolic Disease
|
January 23, 2022
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial
Jesper H Storgaard, Nicoline Løkken, Karen L Madsen, et al.
Journal of Neurology
|
May 4, 2026
Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials
Jean-Yves Hogrel, Frédéric Fer, Isabelle Ledoux, et al.
Neurology
|
May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
Andoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
Muscle & Nerve
|
February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Clinical Neurology and Neurosurgery
|
May 9, 2026
Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patients
Pascal Cintas, Samuel Pouplin, Louise Debergé, et al.
Page
of 17
Search research articles
Search
Showing results (61-70 of 164) with videos related to
Sort By:
Page
of 17
Muscle & Nerve
|
April 12, 2019
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
David Tobaly, Pascal Laforêt, Ariane Perry, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2015
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Pierre G Carlier, Noura Azzabou, Paulo Loureiro de Sousa, et al.
Human Mutation
|
December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
Nicolas Wein, Aurélie Avril, Marc Bartoli, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency
Nicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
The American Journal of Pathology
|
April 17, 2010
DNAJB2 expression in normal and diseased human and mouse skeletal muscle
Kristl G Claeys, Magdalena Sozanska, Jean-Jacques Martin, et al.
Journal of Inherited Metabolic Disease
|
January 23, 2022
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial
Jesper H Storgaard, Nicoline Løkken, Karen L Madsen, et al.
Journal of Neurology
|
May 4, 2026
Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials
Jean-Yves Hogrel, Frédéric Fer, Isabelle Ledoux, et al.
Neurology
|
May 3, 2014
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy
Andoni Echaniz-Laguna, Odile Dubourg, Pierre Carlier, et al.
Muscle & Nerve
|
February 11, 2017
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients
Constantinos Papadopoulos, Pascal LaforÊt, Juliette Nectoux, et al.
Clinical Neurology and Neurosurgery
|
May 9, 2026
Feasibility and usefulness of personalised patient-reported outcome measures in the therapeutic follow-up of adult spinal muscular atrophy patients
Pascal Cintas, Samuel Pouplin, Louise Debergé, et al.
Page
of 17