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Violeta Mihaylova

Showing results (1-10 of 26) with videos related to

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Praxis|December 13, 2017
Violeta Mihaylova, Hans H Jung
Journal of Clinical Neurology (Seoul, Korea)|July 7, 2023
A Novel <i>WARS2</i> Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to TrihexyphenidylVioleta Mihaylova, Yvan Herenger, Tobias Bethge, et al.
Expert Reviews in Molecular Medicine|August 10, 2007
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmissionJuliane S Müller, Violeta Mihaylova, Angela Abicht, et al.
Neurology. Genetics|July 9, 2020
Novel truncating mutations of <i>MYO18B</i> causing congenital myopathy in a Swiss patientVioleta Mihaylova, Fabian Chablais, Yvan Herenger, et al.
Journal of Clinical Neuromuscular Disease|March 2, 2026
A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5)Demian Mayer, Emmanouela Kartsonaki, Einar Wilder-Smith, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|November 23, 2025
Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriersE Wilder-Smith, Ivaylo Tournev, Theodora Chamova, et al.
Journal of Neurogenetics|April 18, 2013
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathyVioleta Mihaylova, Velina Guergueltcheva, Sylvia Cherninkova, et al.
Journal of Clinical Neuromuscular Disease|February 17, 2021
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish FamilyVioleta Mihaylova, Fabian Chablais, Juliane Bremer, et al.
Orphanet Journal of Rare Diseases|June 13, 2019
Satellite cell content in Huntington's disease patients in response to endurance trainingSandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, et al.
Journal of Neuromuscular Diseases|July 12, 2024
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon SubunitKristina Kastreva, Teodora Chamova, Stanislava Blagoeva, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Praxis|December 13, 2017
Violeta Mihaylova, Hans H Jung
Journal of Clinical Neurology (Seoul, Korea)|July 7, 2023
A Novel <i>WARS2</i> Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to TrihexyphenidylVioleta Mihaylova, Yvan Herenger, Tobias Bethge, et al.
Expert Reviews in Molecular Medicine|August 10, 2007
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmissionJuliane S Müller, Violeta Mihaylova, Angela Abicht, et al.
Neurology. Genetics|July 9, 2020
Novel truncating mutations of <i>MYO18B</i> causing congenital myopathy in a Swiss patientVioleta Mihaylova, Fabian Chablais, Yvan Herenger, et al.
Journal of Clinical Neuromuscular Disease|March 2, 2026
A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5)Demian Mayer, Emmanouela Kartsonaki, Einar Wilder-Smith, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|November 23, 2025
Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriersE Wilder-Smith, Ivaylo Tournev, Theodora Chamova, et al.
Journal of Neurogenetics|April 18, 2013
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathyVioleta Mihaylova, Velina Guergueltcheva, Sylvia Cherninkova, et al.
Journal of Clinical Neuromuscular Disease|February 17, 2021
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish FamilyVioleta Mihaylova, Fabian Chablais, Juliane Bremer, et al.
Orphanet Journal of Rare Diseases|June 13, 2019
Satellite cell content in Huntington's disease patients in response to endurance trainingSandro Manuel Mueller, Violeta Mihaylova, Sebastian Frese, et al.
Journal of Neuromuscular Diseases|July 12, 2024
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon SubunitKristina Kastreva, Teodora Chamova, Stanislava Blagoeva, et al.
Pageof 3