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Journal of Neuropathology and Experimental Neurology
|
September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
Silvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.
The Journal of Clinical Investigation
|
July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Nunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Annals of Clinical and Translational Neurology
|
August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Craig M McDonald, Michela Guglieri, Dragana Vučinić, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy
Anna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Neurology
|
October 17, 2020
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
Federica Trucco, Deborah Ridout, Mariacristina Scoto, et al.
The Lancet Regional Health. Europe
|
January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom
Vasantha Gowda, Mark Atherton, Archana Murugan, et al.
Skeletal Muscle
|
August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Katherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Neurology. Clinical Practice
|
June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3
Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
Contemporary Clinical Trials
|
April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Michela Guglieri, Kate Bushby, Michael P McDermott, et al.
JAMA
|
April 5, 2022
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Michela Guglieri, Kate Bushby, Michael P McDermott, et al.
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Search research articles
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 40 results.
Journal of Neuropathology and Experimental Neurology
|
September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
Silvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.
The Journal of Clinical Investigation
|
July 1, 2024
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Nunziata Maio, Rotem Orbach, Irina T Zaharieva, et al.
Annals of Clinical and Translational Neurology
|
August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Craig M McDonald, Michela Guglieri, Dragana Vučinić, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy
Anna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Neurology
|
October 17, 2020
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
Federica Trucco, Deborah Ridout, Mariacristina Scoto, et al.
The Lancet Regional Health. Europe
|
January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom
Vasantha Gowda, Mark Atherton, Archana Murugan, et al.
Skeletal Muscle
|
August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Katherine Johnson, Marta Bertoli, Lauren Phillips, et al.
Neurology. Clinical Practice
|
June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3
Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
Contemporary Clinical Trials
|
April 29, 2017
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Michela Guglieri, Kate Bushby, Michael P McDermott, et al.
JAMA
|
April 5, 2022
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Michela Guglieri, Kate Bushby, Michael P McDermott, et al.
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