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Neuromuscular Disorders : NMD
|
April 26, 2023
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials
Federica Montagnese, Katy de Valle, Richard J L F Lemmers, et al.
Practical Neurology
|
July 1, 2026
Oculopharyngeal muscular dystrophy: diagnosis, management and multisystem care
Wesley Reintjes, Simone Knuijt, Fien Oelbrandt, et al.
Neuromuscular Disorders : NMD
|
November 2, 2023
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease
Dennis T Famili, Miguel A Fernandez-Garcia, Maria Vanegas, et al.
The Cochrane Database of Systematic Reviews
|
December 10, 2024
Treatments for RYR1-related disorders
Sharika Raga, Nicol Voermans, Ivan Perez-Neri, et al.
Journal of the Neurological Sciences
|
July 3, 2024
An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1
Joost Kools, Nicol Voermans, John G Jiang, et al.
Human Molecular Genetics
|
January 23, 2019
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
Delfien Syx, Inge De Wandele, Sofie Symoens, et al.
Current Pharmaceutical Design
|
August 5, 2021
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction
Nick Kruijt, Luuk Van den Bersselaar, Marc Snoeck, et al.
Journal of Neuromuscular Diseases
|
August 2, 2021
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
Maurits Tankink, Corinne G C Horlings, Nicol Voermans, et al.
Journal of Neuromuscular Diseases
|
January 26, 2024
Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
Megan M McNiff, Sheila Hawkins, Bine Haase, 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.
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Search research articles
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Showing results (11-20 of 47) with videos related to
Sort By:
Page
of 5
Neuromuscular Disorders : NMD
|
April 26, 2023
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials
Federica Montagnese, Katy de Valle, Richard J L F Lemmers, et al.
Practical Neurology
|
July 1, 2026
Oculopharyngeal muscular dystrophy: diagnosis, management and multisystem care
Wesley Reintjes, Simone Knuijt, Fien Oelbrandt, et al.
Neuromuscular Disorders : NMD
|
November 2, 2023
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease
Dennis T Famili, Miguel A Fernandez-Garcia, Maria Vanegas, et al.
The Cochrane Database of Systematic Reviews
|
December 10, 2024
Treatments for RYR1-related disorders
Sharika Raga, Nicol Voermans, Ivan Perez-Neri, et al.
Journal of the Neurological Sciences
|
July 3, 2024
An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1
Joost Kools, Nicol Voermans, John G Jiang, et al.
Human Molecular Genetics
|
January 23, 2019
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
Delfien Syx, Inge De Wandele, Sofie Symoens, et al.
Current Pharmaceutical Design
|
August 5, 2021
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction
Nick Kruijt, Luuk Van den Bersselaar, Marc Snoeck, et al.
Journal of Neuromuscular Diseases
|
August 2, 2021
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
Maurits Tankink, Corinne G C Horlings, Nicol Voermans, et al.
Journal of Neuromuscular Diseases
|
January 26, 2024
Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation
Megan M McNiff, Sheila Hawkins, Bine Haase, 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.
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of 5