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Journal of Child Neurology|July 13, 2013
Weakness and fatigue in diverse neuromuscular diseasesJacqueline Montes, Michelle Blumenschine, Sally Dunaway, et al.
Muscle & Nerve|March 26, 2016
Six-minute walk test is reliable and valid in spinal muscular atrophySally Dunaway Young, Jacqueline Montes, Samantha S Kramer, et al.
Neuromuscular Disorders : NMD|September 18, 2023
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suiteThanneer Malai Perumal, Detlef Wolf, Doris Berchtold, et al.
The Journal of Clinical Investigation|February 11, 2020
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy modelsJeong-Ki Kim, Narendra N Jha, Zhihua Feng, et al.
Neurology|February 12, 2016
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophyClaudia A Chiriboga, Kathryn J Swoboda, Basil T Darras, et al.
Neurology|April 16, 2017
Phenotype of GABA-transaminase deficiencyMary Kay Koenig, Ryan Hodgeman, James J Riviello, et al.
Journal of Neurology|May 11, 2024
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplamClaudia A Chiriboga, Claudio Bruno, Tina Duong, et al.
Lancet (London, England)|December 13, 2016
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation studyRichard S Finkel, Claudia A Chiriboga, Jiri Vajsar, et al.
The Lancet. Child & Adolescent Health|June 5, 2021
Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation studyRichard S Finkel, Claudia A Chiriboga, Jiri Vajsar, et al.
Neurology and Therapy|February 13, 2023
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH StudyClaudia A Chiriboga, Claudio Bruno, Tina Duong, et al.
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