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Angela Abicht

Showing results (81-90 of 102) with videos related to

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Brain : a Journal of Neurology|October 13, 2022
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencingHannes Erdmann, Florian Schöberl, Mădălina Giurgiu, et al.
Acta Neuropathologica Communications|February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndromeAdela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Brain : a Journal of Neurology|April 19, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Müller, Agnes Herczegfalvi, Juan J Vilchez, et al.
American Journal of Human Genetics|August 24, 2004
Mutation history of the roma/gypsiesBharti Morar, David Gresham, Dora Angelicheva, et al.
Neuromuscular Disorders : NMD|April 17, 2026
Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized frameworkClaudia Strafella, Hannes Erdmann, Jorge Alfredo Bevilacqua, et al.
Brain : a Journal of Neurology|January 9, 2008
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromesVioleta Mihaylova, Juliane S Müller, Juan J Vilchez, et al.
Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Therapeutic Advances in Neurological Disorders|December 28, 2023
Guideline for the management of myasthenic syndromesHeinz Wiendl, Angela Abicht, Andrew Chan, et al.
Pageof 11

Showing results (81-90 of 102) with videos related to

Sort By:
Pageof 11
Brain : a Journal of Neurology|October 13, 2022
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencingHannes Erdmann, Florian Schöberl, Mădălina Giurgiu, et al.
Acta Neuropathologica Communications|February 13, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndromeAdela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, et al.
Brain : a Journal of Neurology|April 19, 2007
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesJuliane S Müller, Agnes Herczegfalvi, Juan J Vilchez, et al.
American Journal of Human Genetics|August 24, 2004
Mutation history of the roma/gypsiesBharti Morar, David Gresham, Dora Angelicheva, et al.
Neuromuscular Disorders : NMD|April 17, 2026
Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized frameworkClaudia Strafella, Hannes Erdmann, Jorge Alfredo Bevilacqua, et al.
Brain : a Journal of Neurology|January 9, 2008
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromesVioleta Mihaylova, Juliane S Müller, Juan J Vilchez, et al.
Brain : a Journal of Neurology|September 13, 2022
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophyHannes Erdmann, Florentine Scharf, Stefanie Gehling, et al.
Brain : a Journal of Neurology|December 21, 2010
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiencyJohn P Kemp, Paul M Smith, Angela Pyle, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Therapeutic Advances in Neurological Disorders|December 28, 2023
Guideline for the management of myasthenic syndromesHeinz Wiendl, Angela Abicht, Andrew Chan, et al.
Pageof 11