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Volker Straub

Showing results (131-140 of 374) with videos related to

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Plos Genetics|March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsAnna Rajab, Volker Straub, Liza J McCann, et al.
Developmental Medicine and Child Neurology|March 14, 2025
Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophyMary Chesshyre, Deborah Ridout, Georgia Stimpson, et al.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
Muscle & Nerve|November 25, 2015
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophyRamesh Srinivasan, David Rawlings, Claire L Wood, et al.
Journal of Neuromuscular Diseases|March 13, 2023
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European ExperienceAnnemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, et al.
Journal of Clinical Lipidology|June 29, 2020
High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemiaZoe White, Chady H Hakim, Marine Theret, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
Human Molecular Genetics|May 25, 2013
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndromeThomas Müller, Shuji Mizumoto, Indrajit Suresh, et al.
Journal of Neurology|January 12, 2017
Reduced serum myostatin concentrations associated with genetic muscle disease progressionPeter M Burch, Oksana Pogoryelova, Joe Palandra, et al.
Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Pageof 38

Showing results (131-140 of 374) with videos related to

Sort By:
Pageof 38
Plos Genetics|March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsAnna Rajab, Volker Straub, Liza J McCann, et al.
Developmental Medicine and Child Neurology|March 14, 2025
Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophyMary Chesshyre, Deborah Ridout, Georgia Stimpson, et al.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
Muscle & Nerve|November 25, 2015
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophyRamesh Srinivasan, David Rawlings, Claire L Wood, et al.
Journal of Neuromuscular Diseases|March 13, 2023
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European ExperienceAnnemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, et al.
Journal of Clinical Lipidology|June 29, 2020
High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemiaZoe White, Chady H Hakim, Marine Theret, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
Human Molecular Genetics|May 25, 2013
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndromeThomas Müller, Shuji Mizumoto, Indrajit Suresh, et al.
Journal of Neurology|January 12, 2017
Reduced serum myostatin concentrations associated with genetic muscle disease progressionPeter M Burch, Oksana Pogoryelova, Joe Palandra, et al.
Medrxiv : the Preprint Server for Health Sciences|February 19, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Pageof 38