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Angela Abicht

Showing results (31-40 of 102) with videos related to

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Molecular Genetics & Genomic Medicine|November 9, 2018
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based methodAngela Abicht, Florentine Scharf, Stephanie Kleinle, et al.
Cerebellum (London, England)|June 29, 2026
Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion FindingsRonak Rashedi, Franca Peemöller, Hannes Erdmann, et al.
Neuromuscular Disorders : NMD|October 27, 2021
Congenital myopathy and epidermolysis bullosa due to PLEC variantMaggie C Walter, Peter Reilich, Sabine Krause, et al.
Journal of Neurology|June 25, 2024
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron diseaseAnnalisa Schaub, Hannes Erdmann, Veronika Scholz, et al.
Journal of Neurology|March 3, 2009
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexiaRita Horváth, Andreas Bender, Angela Abicht, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Journal of Child Neurology|January 8, 2013
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosisRobertino Dilena, Angela Abicht, Paola Sergi, et al.
Neuromuscular Disorders : NMD|July 2, 2017
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patientElena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, et al.
Human Molecular Genetics|March 14, 2015
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndromeMarina Dusl, Jan Senderek, Juliane S Müller, et al.
Molecular Genetics and Metabolism|May 22, 2012
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletionStefanie Bulst, Elke Holinski-Feder, Brendan Payne, et al.
Pageof 11

Showing results (31-40 of 102) with videos related to

Sort By:
Pageof 11
Molecular Genetics & Genomic Medicine|November 9, 2018
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based methodAngela Abicht, Florentine Scharf, Stephanie Kleinle, et al.
Cerebellum (London, England)|June 29, 2026
Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion FindingsRonak Rashedi, Franca Peemöller, Hannes Erdmann, et al.
Neuromuscular Disorders : NMD|October 27, 2021
Congenital myopathy and epidermolysis bullosa due to PLEC variantMaggie C Walter, Peter Reilich, Sabine Krause, et al.
Journal of Neurology|June 25, 2024
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron diseaseAnnalisa Schaub, Hannes Erdmann, Veronika Scholz, et al.
Journal of Neurology|March 3, 2009
Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexiaRita Horváth, Andreas Bender, Angela Abicht, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Journal of Child Neurology|January 8, 2013
Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosisRobertino Dilena, Angela Abicht, Paola Sergi, et al.
Neuromuscular Disorders : NMD|July 2, 2017
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patientElena Ikenberg, Ivan Karin, Birgit Ertl-Wagner, et al.
Human Molecular Genetics|March 14, 2015
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndromeMarina Dusl, Jan Senderek, Juliane S Müller, et al.
Molecular Genetics and Metabolism|May 22, 2012
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletionStefanie Bulst, Elke Holinski-Feder, Brendan Payne, et al.
Pageof 11