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Molecular Genetics and Metabolism
|
January 22, 2013
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study
Pascal Laforêt, Tanya Stojkovic, Guillaume Bassez, et al.
Journal of the Neurological Sciences
|
November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body disease
Ségolène Billot, Dominique Hervé, Hasan O Akman, et al.
Neuromuscular Disorders : NMD
|
July 28, 2016
Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
Barbara Perniconi, Daniele Vauthier-Brouzes, Capucine Morélot-Panzini, et al.
Brain : a Journal of Neurology
|
April 6, 2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
Dirk Fischer, Muriel Herasse, Marc Bitoun, et al.
European Journal of Neurology
|
March 31, 2025
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, et al.
Muscle & Nerve
|
January 20, 2018
The role of electrodiagnosis with long exercise test in mcardle disease
Claudio Semplicini, Marianne Hézode-Arzel, Pascal Laforêt, et al.
Muscle & Nerve
|
August 12, 2009
Permanent muscle weakness in McArdle disease
Aleksandra A Nadaj-Pakleza, Carlo M Vincitorio, Pascal Laforêt, et al.
Mitochondrion
|
August 22, 2017
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Anouk Tosserams, Constantinos Papadopoulos, Claude Jardel, et al.
Neuromuscular Disorders : NMD
|
August 19, 2003
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
Claire Wary, Pascal Laforêt, Bruno Eymard, et al.
JAMA
|
March 29, 2012
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease
Karim Wahbi, Christophe Meune, Raphaël Porcher, et al.
Page
of 17
Search research articles
Search
Showing results (41-50 of 164) with videos related to
Sort By:
Page
of 17
Molecular Genetics and Metabolism
|
January 22, 2013
Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study
Pascal Laforêt, Tanya Stojkovic, Guillaume Bassez, et al.
Journal of the Neurological Sciences
|
November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body disease
Ségolène Billot, Dominique Hervé, Hasan O Akman, et al.
Neuromuscular Disorders : NMD
|
July 28, 2016
Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
Barbara Perniconi, Daniele Vauthier-Brouzes, Capucine Morélot-Panzini, et al.
Brain : a Journal of Neurology
|
April 6, 2006
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
Dirk Fischer, Muriel Herasse, Marc Bitoun, et al.
European Journal of Neurology
|
March 31, 2025
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, et al.
Muscle & Nerve
|
January 20, 2018
The role of electrodiagnosis with long exercise test in mcardle disease
Claudio Semplicini, Marianne Hézode-Arzel, Pascal Laforêt, et al.
Muscle & Nerve
|
August 12, 2009
Permanent muscle weakness in McArdle disease
Aleksandra A Nadaj-Pakleza, Carlo M Vincitorio, Pascal Laforêt, et al.
Mitochondrion
|
August 22, 2017
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Anouk Tosserams, Constantinos Papadopoulos, Claude Jardel, et al.
Neuromuscular Disorders : NMD
|
August 19, 2003
Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
Claire Wary, Pascal Laforêt, Bruno Eymard, et al.
JAMA
|
March 29, 2012
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease
Karim Wahbi, Christophe Meune, Raphaël Porcher, et al.
Page
of 17