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Nicholas E Johnson

Showing results (41-50 of 110) with videos related to

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Orphanet Journal of Rare Diseases|September 30, 2020
Phenotypic diversity in an international Cure VCP Disease registryChiseko Ikenaga, Andrew R Findlay, Michelle Seiffert, et al.
Neuromuscular Disorders : NMD|November 25, 2025
287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025Leandre A la Fontaine, Daniël van As, Guillaume Bassez, et al.
Muscle & Nerve|July 22, 2014
Prospective study of muscle cramps in Charcot-Marie-tooth diseaseNicholas E Johnson, Janet Sowden, Nuran Dilek, et al.
Bioanalysis|July 3, 2026
A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1Purnajai Srivijay Saravanan Vanaja, Subodh Mishra, John Douglas Cleary, et al.
Neurology. Genetics|July 15, 2026
Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease CarriersAlison Gaynor, Dove Enicks, Katherine Karam, et al.
Neurology|February 27, 2019
Effects of weakness of orofacial muscles on swallowing and communication in FSHDKarlien Mul, Kiera N Berggren, Mattie Y Sills, et al.
Neuromuscular Disorders : NMD|August 6, 2014
Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspectiveNicholas E Johnson, Chad R Heatwole, Nuran Dilek, et al.
Nature Reviews. Neurology|September 22, 2025
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectivesLisa Rahm, Melissa A Hale, Renée H L Raaijmakers, et al.
Muscle & Nerve|November 19, 2016
Physical function and mobility in children with congenital myotonic dystrophyEvan M Pucillo, Deanna L Dibella, Man Hung, et al.
Muscle & Nerve|June 15, 2021
Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysisValeria A Sansone, Nicholas E Johnson, Michael G Hanna, et al.
Pageof 11

Showing results (41-50 of 110) with videos related to

Sort By:
Pageof 11
Orphanet Journal of Rare Diseases|September 30, 2020
Phenotypic diversity in an international Cure VCP Disease registryChiseko Ikenaga, Andrew R Findlay, Michelle Seiffert, et al.
Neuromuscular Disorders : NMD|November 25, 2025
287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025Leandre A la Fontaine, Daniël van As, Guillaume Bassez, et al.
Muscle & Nerve|July 22, 2014
Prospective study of muscle cramps in Charcot-Marie-tooth diseaseNicholas E Johnson, Janet Sowden, Nuran Dilek, et al.
Bioanalysis|July 3, 2026
A simple, sensitive microsample LC-MS assay for quercetin and isorhamnetin in mouse and human plasma: application to EMIQ treatment in myotonic dystrophy type 1Purnajai Srivijay Saravanan Vanaja, Subodh Mishra, John Douglas Cleary, et al.
Neurology. Genetics|July 15, 2026
Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease CarriersAlison Gaynor, Dove Enicks, Katherine Karam, et al.
Neurology|February 27, 2019
Effects of weakness of orofacial muscles on swallowing and communication in FSHDKarlien Mul, Kiera N Berggren, Mattie Y Sills, et al.
Neuromuscular Disorders : NMD|August 6, 2014
Quality-of-life in Charcot-Marie-Tooth disease: the patient's perspectiveNicholas E Johnson, Chad R Heatwole, Nuran Dilek, et al.
Nature Reviews. Neurology|September 22, 2025
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectivesLisa Rahm, Melissa A Hale, Renée H L Raaijmakers, et al.
Muscle & Nerve|November 19, 2016
Physical function and mobility in children with congenital myotonic dystrophyEvan M Pucillo, Deanna L Dibella, Man Hung, et al.
Muscle & Nerve|June 15, 2021
Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysisValeria A Sansone, Nicholas E Johnson, Michael G Hanna, et al.
Pageof 11