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Volker Straub

Showing results (151-160 of 374) with videos related to

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Plos One|November 28, 2013
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular DystrophyIrina T Zaharieva, Mattia Calissano, Mariacristina Scoto, et al.
Journal of Neurology|March 25, 2020
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophyJean-Yves Hogrel, Valérie Decostre, Isabelle Ledoux, et al.
Brain : a Journal of Neurology|June 5, 2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophyJohn Vissing, Rita Barresi, Nanna Witting, et al.
Neurology|December 19, 2019
Multisystem proteinopathy due to a homozygous p.Arg159His <i>VCP</i> mutation: A tale of the unexpectedWillem De Ridder, Abdelkrim Azmi, Christoph S Clemen, et al.
Scientific Reports|August 10, 2019
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structureAdam Jarmula, Anna Łusakowska, Jakub P Fichna, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Ebiomedicine|December 22, 2019
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanismPeter Meinke, Alastair R W Kerr, Rafal Czapiewski, et al.
Neuropathology and Applied Neurobiology|August 13, 2022
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathyChiara Folland, Russell Johnsen, Adriana Botero Gomez, et al.
Journal of Neuromuscular Diseases|March 18, 2025
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophyAnna G Mayhew, James Signorovitch, Michaela Johnson, et al.
Pageof 38

Showing results (151-160 of 374) with videos related to

Sort By:
Pageof 38
Plos One|November 28, 2013
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular DystrophyIrina T Zaharieva, Mattia Calissano, Mariacristina Scoto, et al.
Journal of Neurology|March 25, 2020
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophyJean-Yves Hogrel, Valérie Decostre, Isabelle Ledoux, et al.
Brain : a Journal of Neurology|June 5, 2016
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophyJohn Vissing, Rita Barresi, Nanna Witting, et al.
Neurology|December 19, 2019
Multisystem proteinopathy due to a homozygous p.Arg159His <i>VCP</i> mutation: A tale of the unexpectedWillem De Ridder, Abdelkrim Azmi, Christoph S Clemen, et al.
Scientific Reports|August 10, 2019
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structureAdam Jarmula, Anna Łusakowska, Jakub P Fichna, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Frontiers in Neurology|July 13, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal MyopathiesEnrico Bugiardini, Jasper M Morrow, Sachit Shah, et al.
Ebiomedicine|December 22, 2019
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanismPeter Meinke, Alastair R W Kerr, Rafal Czapiewski, et al.
Neuropathology and Applied Neurobiology|August 13, 2022
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathyChiara Folland, Russell Johnsen, Adriana Botero Gomez, et al.
Journal of Neuromuscular Diseases|March 18, 2025
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophyAnna G Mayhew, James Signorovitch, Michaela Johnson, et al.
Pageof 38