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Volker Straub

Showing results (161-170 of 374) with videos related to

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Orphanet Journal of Rare Diseases|April 24, 2015
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentEmma Heslop, Cristina Csimma, Volker Straub, et al.
Neuromuscular Disorders : NMD|December 22, 2024
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophyMaha Elseed, James N Sampson, Tuomo Polvikoski, et al.
Annals of Neurology|July 12, 2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro, Nicole Monnier, Norma B Romero, et al.
The Lancet. Neurology|September 18, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialEugenio Mercuri, Francesco Muntoni, Giovanni Baranello, et al.
Epigenomics|March 23, 2018
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patientsFrancesco Catapano, Joana Domingos, Mark Perry, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 23, 2006
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationYanchao Huang, Steven H Laval, Alexandra van Remoortere, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Journal of Neuromuscular Diseases|April 24, 2026
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACTAnnemieke Aartsma-Rus, Laura Robertson, Lindsay N Alfano, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
Pageof 38

Showing results (161-170 of 374) with videos related to

Sort By:
Pageof 38
Orphanet Journal of Rare Diseases|April 24, 2015
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentEmma Heslop, Cristina Csimma, Volker Straub, et al.
Neuromuscular Disorders : NMD|December 22, 2024
Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophyMaha Elseed, James N Sampson, Tuomo Polvikoski, et al.
Annals of Neurology|July 12, 2002
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 geneAna Ferreiro, Nicole Monnier, Norma B Romero, et al.
The Lancet. Neurology|September 18, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trialEugenio Mercuri, Francesco Muntoni, Giovanni Baranello, et al.
Epigenomics|March 23, 2018
Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patientsFrancesco Catapano, Joana Domingos, Mark Perry, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 23, 2006
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationYanchao Huang, Steven H Laval, Alexandra van Remoortere, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Journal of Neuromuscular Diseases|April 24, 2026
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACTAnnemieke Aartsma-Rus, Laura Robertson, Lindsay N Alfano, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
Pageof 38