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Emma Matthews

Showing results (61-70 of 71) with videos related to

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Neuromuscular Disorders : NMD|September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centreEnrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.
BMJ Open|January 23, 2023
The current understanding of precision medicine and personalised medicine in selected research disciplines: study protocol of a systematic concept analysisNicola Brew-Sam, Anne Parkinson, Christian Lueck, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Plos One|December 11, 2025
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history studyKarlien Mul, Kate Eichinger, Man Hung, et al.
Journal of the American Heart Association|November 29, 2022
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and MiceEnrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, et al.
Brain Communications|March 10, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohortAndreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, et al.
Muscle & Nerve|May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Neuromuscular Disorders : NMD|September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centreEnrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.
BMJ Open|January 23, 2023
The current understanding of precision medicine and personalised medicine in selected research disciplines: study protocol of a systematic concept analysisNicola Brew-Sam, Anne Parkinson, Christian Lueck, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Plos One|December 11, 2025
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history studyKarlien Mul, Kate Eichinger, Man Hung, et al.
Journal of the American Heart Association|November 29, 2022
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and MiceEnrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, et al.
Brain Communications|March 10, 2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohortAndreas C Themistocleous, Georgios Baskozos, Iulia Blesneac, et al.
Muscle & Nerve|May 11, 2026
Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1Valeria A Sansone, Andrea Lizio, Carola R Ferrari Aggradi, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
Pageof 8