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Angela Abicht

Showing results (61-70 of 102) with videos related to

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Journal of Inherited Metabolic Disease|April 8, 2016
Mitochondrial dysfunction in liver failure requiring transplantationMaria Lane, Veronika Boczonadi, Sahar Bachtari, et al.
Journal of Neuromuscular Diseases|April 5, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated PhenotypesAdela Della Marina, Andreas Hentschel, Artur Czech, et al.
Neuropediatrics|August 23, 2012
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRESAndreas van Baalen, Martin Häusler, Barbara Plecko-Startinig, et al.
JIMD Reports|February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeAdela Della Marina, Ulrike Schara, Angela Pyle, et al.
Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Human Mutation|February 3, 2022
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth diseaseAndrea Gangfuß, Andreas Hentschel, Nina Rademacher, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsUlrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Journal of Neurology|April 21, 2010
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2Maggie C Walter, Birgit Czermin, Solvig Muller-Ziermann, et al.
Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.
Pageof 11

Showing results (61-70 of 102) with videos related to

Sort By:
Pageof 11
Journal of Inherited Metabolic Disease|April 8, 2016
Mitochondrial dysfunction in liver failure requiring transplantationMaria Lane, Veronika Boczonadi, Sahar Bachtari, et al.
Journal of Neuromuscular Diseases|April 5, 2024
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated PhenotypesAdela Della Marina, Andreas Hentschel, Artur Czech, et al.
Neuropediatrics|August 23, 2012
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRESAndreas van Baalen, Martin Häusler, Barbara Plecko-Startinig, et al.
JIMD Reports|February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeAdela Della Marina, Ulrike Schara, Angela Pyle, et al.
Brain Pathology (Zurich, Switzerland)|May 19, 2020
Differential diagnosis of vacuolar myopathies in the NGS eraDorothea Mair, Saskia Biskup, Wolfram Kress, et al.
Human Mutation|February 3, 2022
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth diseaseAndrea Gangfuß, Andreas Hentschel, Nina Rademacher, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2009
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutationsUlrike Schara, Hans-Jürgen Christen, Hacer Durmus, et al.
Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, et al.
Journal of Neurology|April 21, 2010
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2Maggie C Walter, Birgit Czermin, Solvig Muller-Ziermann, et al.
Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.
Pageof 11