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T Darras

Showing results (231-240 of 303) with videos related to

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Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
American Journal of Medical Genetics|August 15, 2001
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophyC A Brown, R W Lanning, K Q McKinney, et al.
Neuromuscular Disorders : NMD|October 30, 2016
Developmental milestones in type I spinal muscular atrophyRoberto De Sanctis, Giorgia Coratti, Amy Pasternak, et al.
Nature Medicine|January 28, 2026
Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trialJennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Muscle & Nerve|April 8, 2015
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophyJacqueline Montes, Allan M Glanzman, Elena S Mazzone, et al.
Neurology. Clinical Practice|September 3, 2021
Nusinersen Treatment in Adults With Spinal Muscular AtrophyTina Duong, Connie Wolford, Michael P McDermott, et al.
Journal of Neuromuscular Diseases|June 6, 2018
Evaluator Training and Reliability for SMA Global Nusinersen Trials1Allan M Glanzman, Elena S Mazzone, Sally Dunaway Young, et al.
Journal of Neuromuscular Diseases|March 13, 2023
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)Richard S Finkel, Basil T Darras, Jerry R Mendell, et al.
The Lancet. Child & Adolescent Health|July 1, 2026
Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trialMaria Mazurkiewicz-Bełdzińska, Laurent Servais, Giovanni Baranello, et al.
Plos One|October 19, 2020
Medical management of muscle weakness in Duchenne muscular dystrophySarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, et al.
Pageof 31

Showing results (231-240 of 303) with videos related to

Sort By:
Pageof 31
Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.
American Journal of Medical Genetics|August 15, 2001
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophyC A Brown, R W Lanning, K Q McKinney, et al.
Neuromuscular Disorders : NMD|October 30, 2016
Developmental milestones in type I spinal muscular atrophyRoberto De Sanctis, Giorgia Coratti, Amy Pasternak, et al.
Nature Medicine|January 28, 2026
Author Correction: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trialJennifer M Kwon, Francina Munell, Laure Le Goff, et al.
Muscle & Nerve|April 8, 2015
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophyJacqueline Montes, Allan M Glanzman, Elena S Mazzone, et al.
Neurology. Clinical Practice|September 3, 2021
Nusinersen Treatment in Adults With Spinal Muscular AtrophyTina Duong, Connie Wolford, Michael P McDermott, et al.
Journal of Neuromuscular Diseases|June 6, 2018
Evaluator Training and Reliability for SMA Global Nusinersen Trials1Allan M Glanzman, Elena S Mazzone, Sally Dunaway Young, et al.
Journal of Neuromuscular Diseases|March 13, 2023
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)Richard S Finkel, Basil T Darras, Jerry R Mendell, et al.
The Lancet. Child & Adolescent Health|July 1, 2026
Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trialMaria Mazurkiewicz-Bełdzińska, Laurent Servais, Giovanni Baranello, et al.
Plos One|October 19, 2020
Medical management of muscle weakness in Duchenne muscular dystrophySarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, et al.
Pageof 31