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Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.Human Mutation|January 22, 2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutationsCatherine L Bladen, David Salgado, Soledad Monges, et al.The Lancet Regional Health. Europe|February 16, 2024
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational studyRené Günther, Claudia Diana Wurster, Svenja Brakemeier, et al.Journal of Neurology|October 29, 2013
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and EuropeCatherine L Bladen, Rachel Thompson, Jacqueline M Jackson, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.Human Mutation|August 6, 2013
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academiaCatherine L Bladen, Karen Rafferty, Volker Straub, et al.Journal of Neuromuscular Diseases|November 11, 2017
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseZaïda Koeks, Catherine L Bladen, David Salgado, et al.Pageof 16