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Enrico Bugiardini

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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.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
European Journal of Human Genetics : EJHG|April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern IndiaVenugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
Scientific Reports|May 18, 2026
Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trialRenae J Stefanetti, Chiara Pizzamiglio, Alasdair P Blain, 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.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophyRichard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
Pageof 7

Showing results (41-50 of 66) with videos related to

Sort By:
Pageof 7
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.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
European Journal of Human Genetics : EJHG|April 25, 2024
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern IndiaVenugopalan Y Vishnu, Richard J L F Lemmers, Alisha Reyaz, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Biomolecules|November 25, 2023
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesStephanie Efthymiou, Richard J L F Lemmers, Venugopalan Y Vishnu, et al.
Molecular Biology Reports|March 20, 2021
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial diseaseAlejandro Horga, Andreea Manole, Alice L Mitchell, et al.
Scientific Reports|May 18, 2026
Mavodelpar in patients with primary mitochondrial myopathy: a phase 1 trialRenae J Stefanetti, Chiara Pizzamiglio, Alasdair P Blain, 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.
Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of <i>RNASEH1</i>-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.
Brain : a Journal of Neurology|September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophyRichard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
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