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Showing results (231-240 of 289) with videos related to

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Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.
Neuromuscular Disorders : NMD|February 4, 2026
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith ScaleE Milev, G Stimpson, D Ramsey, et al.
The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
Annals of Clinical and Translational Neurology|August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History ComparisonsCraig M McDonald, Michela Guglieri, Dragana Vučinić, et al.
Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Steroids|November 20, 2025
Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4- to <7-year childrenSwati Mummidivarpu, Utkarsh J Dang, Michael Ziemba, et al.
Pageof 29

Showing results (231-240 of 289) with videos related to

Sort By:
Pageof 29
Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.
Neuromuscular Disorders : NMD|February 4, 2026
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith ScaleE Milev, G Stimpson, D Ramsey, et al.
The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
Annals of Clinical and Translational Neurology|August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History ComparisonsCraig M McDonald, Michela Guglieri, Dragana Vučinić, et al.
Human Mutation|October 6, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD geneKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.
Steroids|November 20, 2025
Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4- to <7-year childrenSwati Mummidivarpu, Utkarsh J Dang, Michael Ziemba, et al.
Pageof 29