Showing results (281-290 of 319) with videos related to

Sort By:
Pageof 32
Muscle & Nerve|July 6, 2023
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE studyThomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, et al.
Molecular Therapy. Nucleic Acids|May 22, 2023
Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathiesVigneshwaran Venkatesan, Abisha Crystal Christopher, Manuel Rhiel, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Journal of Neuromuscular Diseases|November 21, 2019
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1Astrid Pechmann, Matthias Baumann, Günther Bernert, et al.
The Lancet. Neurology|March 22, 2020
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort studyTim Hagenacker, Claudia D Wurster, René Günther, et al.
Lancet (London, England)|July 22, 2017
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialCraig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, et al.
The Lancet Regional Health. Europe|October 22, 2024
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyClaudia Weiß, Lena-Luise Becker, Johannes Friese, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
Neuromuscular Disorders : NMD|November 10, 2019
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE studyDarryl C De Vivo, Enrico Bertini, Kathryn J Swoboda, et al.
Molecular Cell|July 29, 2008
Rapid "open-source" engineering of customized zinc-finger nucleases for highly efficient gene modificationMorgan L Maeder, Stacey Thibodeau-Beganny, Anna Osiak, et al.
Pageof 32