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Hans H Goebel

Showing results (61-70 of 89) with videos related to

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Human Mutation|December 24, 2008
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathyChristoph S Clemen, Dirk Fischer, Jens Reimann, et al.
The American Journal of Pathology|October 13, 2012
Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profileCorinna Preuße, Hans H Goebel, Josephin Held, et al.
Muscle & Nerve|August 10, 2013
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expressionNicolas W J Schröder, Ulrike Grieben, Stefan Prokop, et al.
Annals of Clinical and Translational Neurology|November 28, 2018
Autophagic vacuolar myopathy is a common feature of CLN3 diseaseJosefine Radke, Randi Koll, Esther Gill, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|October 24, 2014
The lymphoid follicle variant of dermatomyositisJosefine Radke, Debora Pehl, Eleonora Aronica, et al.
Journal of Child Neurology|September 5, 2006
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathyHans H Goebel, Knut Brockman, Carsten G Bönnemann, et al.
Neurology|October 4, 2022
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body MyositisFelix Kleefeld, Akinori Uruha, Anne Schänzer, et al.
Acta Neuropathologica|June 30, 2005
Delayed or late-onset type II glycogenosis with globular inclusionsMehar C Sharma, Christoph Schultze, Arpad von Moers, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Pageof 9

Showing results (61-70 of 89) with videos related to

Sort By:
Pageof 9
Human Mutation|December 24, 2008
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathyChristoph S Clemen, Dirk Fischer, Jens Reimann, et al.
The American Journal of Pathology|October 13, 2012
Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profileCorinna Preuße, Hans H Goebel, Josephin Held, et al.
Muscle & Nerve|August 10, 2013
Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expressionNicolas W J Schröder, Ulrike Grieben, Stefan Prokop, et al.
Annals of Clinical and Translational Neurology|November 28, 2018
Autophagic vacuolar myopathy is a common feature of CLN3 diseaseJosefine Radke, Randi Koll, Esther Gill, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|October 24, 2014
The lymphoid follicle variant of dermatomyositisJosefine Radke, Debora Pehl, Eleonora Aronica, et al.
Journal of Child Neurology|September 5, 2006
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathyHans H Goebel, Knut Brockman, Carsten G Bönnemann, et al.
Neurology|October 4, 2022
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body MyositisFelix Kleefeld, Akinori Uruha, Anne Schänzer, et al.
Acta Neuropathologica|June 30, 2005
Delayed or late-onset type II glycogenosis with globular inclusionsMehar C Sharma, Christoph Schultze, Arpad von Moers, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Pageof 9