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T Darras

Showing results (201-210 of 303) with videos related to

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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.
International Journal of Neonatal Screening|June 2, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular AtrophyJaime E Hale, Basil T Darras, Kathryn J Swoboda, et al.
Journal of Neuromuscular Diseases|February 13, 2023
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported OutcomesSally Dunaway Young, Amy Pasternak, Tina Duong, et al.
Molecular Genetics & Genomic Medicine|January 29, 2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sitesChristine C Bruels, Chengcheng Li, Tonatiuh Mendoza, et al.
Frontiers in Neurology|August 6, 2024
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ studyThomas O Crawford, John W Day, Darryl C De Vivo, et al.
Pageof 31

Showing results (201-210 of 303) with videos related to

Sort By:
Pageof 31
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.
International Journal of Neonatal Screening|June 2, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular AtrophyJaime E Hale, Basil T Darras, Kathryn J Swoboda, et al.
Journal of Neuromuscular Diseases|February 13, 2023
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported OutcomesSally Dunaway Young, Amy Pasternak, Tina Duong, et al.
Molecular Genetics & Genomic Medicine|January 29, 2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sitesChristine C Bruels, Chengcheng Li, Tonatiuh Mendoza, et al.
Frontiers in Neurology|August 6, 2024
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ studyThomas O Crawford, John W Day, Darryl C De Vivo, et al.
Pageof 31