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International Journal of Neonatal Screening
|
June 2, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Jaime 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 Outcomes
Sally 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 sites
Christine 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 study
Thomas O Crawford, John W Day, Darryl C De Vivo, et al.
Journal of Clinical Medicine
|
May 11, 2024
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility
Elizabeth R Harding, Cara H Kanner, Amy Pasternak, et al.
The New England Journal of Medicine
|
February 24, 2021
Risdiplam in Type 1 Spinal Muscular Atrophy
Giovanni Baranello, Basil T Darras, John W Day, et al.
Pediatric Neurology
|
May 31, 2022
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Elena Madan, Sabrina Carrié, Carolina Donado, et al.
Muscle & Nerve
|
July 13, 2019
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy
Jacqueline Montes, Sally Dunaway Young, Elena S Mazzone, et al.
The New England Journal of Medicine
|
July 28, 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Basil T Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, et al.
Journal of Child Neurology
|
September 24, 2011
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III
Allan M Glanzman, Jessica M O'Hagen, Michael P McDermott, et al.
Page
of 23
Search research articles
Search
Showing results (131-140 of 222) with videos related to
Sort By:
Page
of 23
International Journal of Neonatal Screening
|
June 2, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Jaime 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 Outcomes
Sally 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 sites
Christine 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 study
Thomas O Crawford, John W Day, Darryl C De Vivo, et al.
Journal of Clinical Medicine
|
May 11, 2024
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility
Elizabeth R Harding, Cara H Kanner, Amy Pasternak, et al.
The New England Journal of Medicine
|
February 24, 2021
Risdiplam in Type 1 Spinal Muscular Atrophy
Giovanni Baranello, Basil T Darras, John W Day, et al.
Pediatric Neurology
|
May 31, 2022
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Elena Madan, Sabrina Carrié, Carolina Donado, et al.
Muscle & Nerve
|
July 13, 2019
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy
Jacqueline Montes, Sally Dunaway Young, Elena S Mazzone, et al.
The New England Journal of Medicine
|
July 28, 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Basil T Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, et al.
Journal of Child Neurology
|
September 24, 2011
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III
Allan M Glanzman, Jessica M O'Hagen, Michael P McDermott, et al.
Page
of 23