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Matthias Vorgerd

Showing results (101-110 of 140) with videos related to

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Neurology|October 28, 2016
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementAndreas Unger, Gabriele Dekomien, Anne Güttsches, et al.
Acta Neuropathologica Communications|December 5, 2019
A metastable subproteome underlies inclusion formation in muscle proteinopathiesPrajwal Ciryam, Matthew Antalek, Fernando Cid, et al.
Orphanet Journal of Rare Diseases|February 15, 2013
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter, Peter Reilich, Simone Thiele, et al.
Human Molecular Genetics|September 11, 2010
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathyBaerbel Klauke, Sabine Kossmann, Anna Gaertner, et al.
Journal of Neurology|October 9, 2013
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathyMaike F Dohrn, Christoph Röcken, Jan L De Bleecker, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina Strach, Torsten Sommer, Christian Grohé, et al.
International Journal of Molecular Sciences|October 14, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the <i>DMD</i> GeneLeoni S Erbe, Sabine Hoffjan, Sören Janßen, et al.
International Journal of Molecular Sciences|October 16, 2024
Compound Heterozygous <i>RYR1</i> Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive <i>RYR1</i>-Related MyopathySören Janßen, Leoni S Erbe, Moritz Kneifel, et al.
FEBS Letters|June 28, 2005
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathiesChristoph S Clemen, Dirk Fischer, Udo Roth, et al.
Acta Neuropathologica|May 27, 2020
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle diseaseAlessandra Ruggieri, Sergey Naumenko, Martin A Smith, et al.
Pageof 14

Showing results (101-110 of 140) with videos related to

Sort By:
Pageof 14
Neurology|October 28, 2016
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementAndreas Unger, Gabriele Dekomien, Anne Güttsches, et al.
Acta Neuropathologica Communications|December 5, 2019
A metastable subproteome underlies inclusion formation in muscle proteinopathiesPrajwal Ciryam, Matthew Antalek, Fernando Cid, et al.
Orphanet Journal of Rare Diseases|February 15, 2013
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter, Peter Reilich, Simone Thiele, et al.
Human Molecular Genetics|September 11, 2010
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathyBaerbel Klauke, Sabine Kossmann, Anna Gaertner, et al.
Journal of Neurology|October 9, 2013
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathyMaike F Dohrn, Christoph Röcken, Jan L De Bleecker, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina Strach, Torsten Sommer, Christian Grohé, et al.
International Journal of Molecular Sciences|October 14, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the <i>DMD</i> GeneLeoni S Erbe, Sabine Hoffjan, Sören Janßen, et al.
International Journal of Molecular Sciences|October 16, 2024
Compound Heterozygous <i>RYR1</i> Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive <i>RYR1</i>-Related MyopathySören Janßen, Leoni S Erbe, Moritz Kneifel, et al.
FEBS Letters|June 28, 2005
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathiesChristoph S Clemen, Dirk Fischer, Udo Roth, et al.
Acta Neuropathologica|May 27, 2020
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle diseaseAlessandra Ruggieri, Sergey Naumenko, Martin A Smith, et al.
Pageof 14