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A Reghan Foley

Showing results (21-30 of 114) with videos related to

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Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Archives of Physical Medicine and Rehabilitation|November 9, 2020
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular DystrophyLaure Le Goff, Katherine G Meilleur, Gina Norato, et al.
BMC Pediatrics|February 8, 2020
Hypoglycemia in patients with congenital muscle diseaseLeslie H Hayes, Pomi Yun, Payam Mohassel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
Ethical challenges for a new generation of early-phase pediatric gene therapy trialsAlexander A Iyer, Dimah Saade, Diana Bharucha-Goebel, et al.
HGG Advances|September 25, 2024
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestationSarah Silverstein, Rotem Orbach, Safoora Syeda, et al.
Journal of Neuromuscular Diseases|June 16, 2020
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional StudyAbhinandan Batra, Donovan J Lott, Rebecca Willcocks, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Differential inclusion of <i>NEB</i> exons 143 and 144 provides insight into <i>NEB</i>-related myopathy variant interpretation and disease manifestationSarah Silverstein, Rotem Orbach, Safoora Syeda, et al.
Annals of Clinical and Translational Neurology|November 3, 2021
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsiesEleonora Guadagnin, Payam Mohassel, Kory R Johnson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Clinical Therapeutics|April 26, 2024
Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective-A Qualitative StudyLizan Stinissen, Johann Böhm, Sietse Bouma, et al.
Pageof 12

Showing results (21-30 of 114) with videos related to

Sort By:
Pageof 12
Neuromuscular Disorders : NMD|August 22, 2020
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patientsRanjini Srinivasan, Pomi Yun, Sarah Neuhaus, et al.
Archives of Physical Medicine and Rehabilitation|November 9, 2020
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular DystrophyLaure Le Goff, Katherine G Meilleur, Gina Norato, et al.
BMC Pediatrics|February 8, 2020
Hypoglycemia in patients with congenital muscle diseaseLeslie H Hayes, Pomi Yun, Payam Mohassel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
Ethical challenges for a new generation of early-phase pediatric gene therapy trialsAlexander A Iyer, Dimah Saade, Diana Bharucha-Goebel, et al.
HGG Advances|September 25, 2024
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestationSarah Silverstein, Rotem Orbach, Safoora Syeda, et al.
Journal of Neuromuscular Diseases|June 16, 2020
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional StudyAbhinandan Batra, Donovan J Lott, Rebecca Willcocks, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Differential inclusion of <i>NEB</i> exons 143 and 144 provides insight into <i>NEB</i>-related myopathy variant interpretation and disease manifestationSarah Silverstein, Rotem Orbach, Safoora Syeda, et al.
Annals of Clinical and Translational Neurology|November 3, 2021
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsiesEleonora Guadagnin, Payam Mohassel, Kory R Johnson, et al.
Journal of Neuromuscular Diseases|September 10, 2019
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice ModulationYing Hu, Payam Mohassel, Sandra Donkervoort, et al.
Clinical Therapeutics|April 26, 2024
Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective-A Qualitative StudyLizan Stinissen, Johann Böhm, Sietse Bouma, et al.
Pageof 12