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Basil T Darras

Showing results (121-130 of 222) with videos related to

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Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
Journal of Clinical Medicine|August 12, 2023
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor FunctionSally Dunaway Young, Jacqueline Montes, Allan M Glanzman, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Neurology. Clinical Practice|October 14, 2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment ConsiderationsMary K Schroth, Jennifer Deans, Diana X Bharucha Goebel, et al.
Neurology. Genetics|July 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline MyopathyClara Hildebrandt, Casie A Genetti, Tanya Logvinenko, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
BMC Genetics|October 20, 2009
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genesRichard R Bennett, Hal E Schneider, Elicia Estrella, et al.
Journal of Neuromuscular Diseases|February 3, 2020
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2Jacqueline Glascock, Jacinda Sampson, Anne M Connolly, et al.
Muscle & Nerve|June 1, 2010
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophyPeter B Kang, Hart G W Lidov, Alexander J White, et al.
Pageof 23

Showing results (121-130 of 222) with videos related to

Sort By:
Pageof 23
Orphanet Journal of Rare Diseases|April 7, 2020
Longitudinal natural history of type I spinal muscular atrophy: a critical reviewEugenio Mercuri, Simona Lucibello, Marco Perulli, et al.
American Journal of Human Genetics|December 13, 2006
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, et al.
Journal of Clinical Medicine|August 12, 2023
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor FunctionSally Dunaway Young, Jacqueline Montes, Allan M Glanzman, et al.
Orphanet Journal of Rare Diseases|July 29, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter studyClaude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, et al.
Neurology. Clinical Practice|October 14, 2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Treatment ConsiderationsMary K Schroth, Jennifer Deans, Diana X Bharucha Goebel, et al.
Neurology. Genetics|July 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline MyopathyClara Hildebrandt, Casie A Genetti, Tanya Logvinenko, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
BMC Genetics|October 20, 2009
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genesRichard R Bennett, Hal E Schneider, Elicia Estrella, et al.
Journal of Neuromuscular Diseases|February 3, 2020
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2Jacqueline Glascock, Jacinda Sampson, Anne M Connolly, et al.
Muscle & Nerve|June 1, 2010
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophyPeter B Kang, Hart G W Lidov, Alexander J White, et al.
Pageof 23