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R Quinlivan

Showing results (21-30 of 31) with videos related to

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Journal of Neuromuscular Diseases|September 19, 2022
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical GeneticistsL R van den Bersselaar, M H M Gubbels, H Jungbluth, et al.
European Journal of Neurology|March 19, 2019
Urogenital symptoms in mitochondrial disease: overlooked and undertreatedO V Poole, T Uchiyama, I Skorupinska, et al.
Journal of Neuromuscular Diseases|April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM studyS Colombo, B S Cowling, L Eyler, et al.
Neurology|March 24, 2012
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutationR K Jain, S Jayawant, W Squier, et al.
Journal of Neuromuscular Diseases|September 13, 2021
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular DystrophyR Quinlivan, B Messer, P Murphy, et al.
Neuromuscular Disorders : NMD|February 5, 2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneM R Davis, E Haan, H Jungbluth, et al.
Journal of Neurology|February 22, 2019
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutationsG J Knuiman, B Küsters, L Eshuis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 25, 2015
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UKS Figueroa-Bonaparte, J Hudson, R Barresi, et al.
Annals of Neurology|September 15, 2010
RYR1 mutations are a common cause of congenital myopathies with central nucleiJ M Wilmshurst, S Lillis, H Zhou, et al.
Journal of Neuromuscular Diseases|February 6, 2022
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy GuidelinesS Narayan, A Pietrusz, J Allen, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Journal of Neuromuscular Diseases|September 19, 2022
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical GeneticistsL R van den Bersselaar, M H M Gubbels, H Jungbluth, et al.
European Journal of Neurology|March 19, 2019
Urogenital symptoms in mitochondrial disease: overlooked and undertreatedO V Poole, T Uchiyama, I Skorupinska, et al.
Journal of Neuromuscular Diseases|April 25, 2025
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM studyS Colombo, B S Cowling, L Eyler, et al.
Neurology|March 24, 2012
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutationR K Jain, S Jayawant, W Squier, et al.
Journal of Neuromuscular Diseases|September 13, 2021
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular DystrophyR Quinlivan, B Messer, P Murphy, et al.
Neuromuscular Disorders : NMD|February 5, 2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneM R Davis, E Haan, H Jungbluth, et al.
Journal of Neurology|February 22, 2019
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutationsG J Knuiman, B Küsters, L Eshuis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 25, 2015
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UKS Figueroa-Bonaparte, J Hudson, R Barresi, et al.
Annals of Neurology|September 15, 2010
RYR1 mutations are a common cause of congenital myopathies with central nucleiJ M Wilmshurst, S Lillis, H Zhou, et al.
Journal of Neuromuscular Diseases|February 6, 2022
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy GuidelinesS Narayan, A Pietrusz, J Allen, et al.
Pageof 4