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JAMA Neurology
|
February 7, 2018
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1
Karim Wahbi, Raphaël Porcher, Pascal Laforêt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Maya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.
Annals of Clinical and Translational Neurology
|
March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies
Leonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders
Apolline Imbard, Hortense de Calbiac, Edouard Le Guillou, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
European Heart Journal
|
December 13, 2016
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1
Karim Wahbi, Dominique Babuty, Vincent Probst, et al.
Journal of Neuromuscular Diseases
|
April 24, 2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France
Guillaume Montagu, François-Constant Boyer, Marcela Gargiulo, et al.
American Journal of Human Genetics
|
January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
Johann Böhm, Frédéric Chevessier, André Maues De Paula, et al.
European Journal of Neurology
|
April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Céline Tard, Françoise Bouhour, Maud Michaud, et al.
JAMA Cardiology
|
September 24, 2025
Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1
Nicolas Clementy, Fabien Labombarda, François Grolleau, et al.
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of 17
Search research articles
Search
Showing results (121-130 of 164) with videos related to
Sort By:
Page
of 17
JAMA Neurology
|
February 7, 2018
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1
Karim Wahbi, Raphaël Porcher, Pascal Laforêt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Maya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.
Annals of Clinical and Translational Neurology
|
March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies
Leonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders
Apolline Imbard, Hortense de Calbiac, Edouard Le Guillou, et al.
Orphanet Journal of Rare Diseases
|
October 15, 2020
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Tomàs Pinós, Antoni L Andreu, Claudio Bruno, et al.
European Heart Journal
|
December 13, 2016
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1
Karim Wahbi, Dominique Babuty, Vincent Probst, et al.
Journal of Neuromuscular Diseases
|
April 24, 2026
A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France
Guillaume Montagu, François-Constant Boyer, Marcela Gargiulo, et al.
American Journal of Human Genetics
|
January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
Johann Böhm, Frédéric Chevessier, André Maues De Paula, et al.
European Journal of Neurology
|
April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Céline Tard, Françoise Bouhour, Maud Michaud, et al.
JAMA Cardiology
|
September 24, 2025
Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1
Nicolas Clementy, Fabien Labombarda, François Grolleau, et al.
Page
of 17