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Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.Journal of Neuromuscular Diseases|September 12, 2025
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling studyBenedikt Becker, Isabell Cordts, Jutta Becker, et al.Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.Brain : a Journal of Neurology|July 20, 2022
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentManuela Wiessner, Andreas Roos, Christopher J Munn, et al.JAMA Pediatrics|April 8, 2024
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled TrialOliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, et al.Journal of Neuromuscular Diseases|December 24, 2022
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry StudyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Annals of Clinical and Translational Neurology|December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in SarcoglycanopathiesLaura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.Orphanet Journal of Rare Diseases|October 24, 2022
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry studyAstrid Pechmann, Max Behrens, Katharina Dörnbrack, et al.Pageof 16