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Volker Straub

Showing results (181-190 of 374) with videos related to

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Journal of Neuromuscular Diseases|May 30, 2026
Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning QuestionnairePien Mm Weerkamp, Ruben Miranda, Daniella Chieffo, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Annals of Neurology|April 1, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri, Martin Brockington, Volker Straub, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Neurology|May 26, 2026
A Validated Prognostic Score for Time to Loss of Ambulation in Patients With Duchenne Muscular DystrophyCraig M McDonald, James Signorovitch, Nathalie Marie Goemans, et al.
Physical Therapy|August 6, 2022
Validation of the North Star Assessment for Limb-Girdle Type Muscular DystrophiesMeredith K James, Lindsay N Alfano, Robert Muni-Lofra, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
JAMA Neurology|May 12, 2025
Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy: An Exploratory Analysis From the EMBARK Randomized Clinical TrialKrista Vandenborne, Glenn A Walter, Volker Straub, et al.
American Journal of Human Genetics|August 23, 2002
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Pageof 38

Showing results (181-190 of 374) with videos related to

Sort By:
Pageof 38
Journal of Neuromuscular Diseases|May 30, 2026
Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning QuestionnairePien Mm Weerkamp, Ruben Miranda, Daniella Chieffo, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Annals of Neurology|April 1, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri, Martin Brockington, Volker Straub, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Neurology|May 26, 2026
A Validated Prognostic Score for Time to Loss of Ambulation in Patients With Duchenne Muscular DystrophyCraig M McDonald, James Signorovitch, Nathalie Marie Goemans, et al.
Physical Therapy|August 6, 2022
Validation of the North Star Assessment for Limb-Girdle Type Muscular DystrophiesMeredith K James, Lindsay N Alfano, Robert Muni-Lofra, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
JAMA Neurology|May 12, 2025
Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy: An Exploratory Analysis From the EMBARK Randomized Clinical TrialKrista Vandenborne, Glenn A Walter, Volker Straub, et al.
American Journal of Human Genetics|August 23, 2002
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Pageof 38