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Journal of the American Heart Association
|
August 15, 2023
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
Abdallah Fayssoil, Nicolas Mansencal, Lee S Nguyen, et al.
Nature Communications
|
May 24, 2018
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, 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.
Human Mutation
|
October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patients
Martin Krahn, Christophe Béroud, Véronique Labelle, et al.
American Journal of Human Genetics
|
September 13, 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
Linda L Bachinski, Bjarne Udd, Giovanni Meola, et al.
European Journal of Neurology
|
October 27, 2025
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study
Diana Maria Chitimus, Céline Tard, Maxime Fournier, et al.
Journal of Neuromuscular Diseases
|
January 16, 2026
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity
Daniël van As, Tine Claeys, Renee Salz, et al.
European Journal of Neurology
|
March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathy
Gorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.
Brain : a Journal of Neurology
|
February 14, 2013
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour
Oscar Hernández-Hernández, Céline Guiraud-Dogan, Géraldine Sicot, et al.
Journal of Neuromuscular Diseases
|
November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Beatrice Labella, Guy Brochier, Maud Beuvin, et al.
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Search research articles
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Showing results (71-80 of 92) with videos related to
Sort By:
Page
of 10
Journal of the American Heart Association
|
August 15, 2023
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
Abdallah Fayssoil, Nicolas Mansencal, Lee S Nguyen, et al.
Nature Communications
|
May 24, 2018
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, 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.
Human Mutation
|
October 15, 2008
Analysis of the DYSF mutational spectrum in a large cohort of patients
Martin Krahn, Christophe Béroud, Véronique Labelle, et al.
American Journal of Human Genetics
|
September 13, 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
Linda L Bachinski, Bjarne Udd, Giovanni Meola, et al.
European Journal of Neurology
|
October 27, 2025
Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study
Diana Maria Chitimus, Céline Tard, Maxime Fournier, et al.
Journal of Neuromuscular Diseases
|
January 16, 2026
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity
Daniël van As, Tine Claeys, Renee Salz, et al.
European Journal of Neurology
|
March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathy
Gorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.
Brain : a Journal of Neurology
|
February 14, 2013
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour
Oscar Hernández-Hernández, Céline Guiraud-Dogan, Géraldine Sicot, et al.
Journal of Neuromuscular Diseases
|
November 18, 2025
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Beatrice Labella, Guy Brochier, Maud Beuvin, et al.
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of 10