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Eclinicalmedicine|May 21, 2026
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational studyGianpaolo Cicala, Anna Capasso, Marianna Villa, et al.
Nature Communications|June 13, 2022
A proteogenomic signature of age-related macular degeneration in bloodValur Emilsson, Elias F Gudmundsson, Thorarinn Jonmundsson, et al.
Frontline Gastroenterology|September 2, 2022
Comparative effectiveness of a second-line biologic in patients with ulcerative colitis: vedolizumab followed by an anti-TNF versus anti-TNF followed by vedolizumabCharles Miller, Hanson Kwok, Paul Harrow, et al.
Science Advances|June 4, 2025
Inhibition of virally induced TFEB proteasomal degradation as a host-centric therapeutic approach for coronaviral infectionTravis B Lear, Mads B Larsen, Bo Lin, et al.
Lancet (London, England)|July 22, 2017
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialCraig M McDonald, Craig Campbell, Ricardo Erazo Torricelli, et al.
Archives of Neurology|February 16, 2011
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 yearPetra Kaufmann, Michael P McDermott, Basil T Darras, et al.
Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association|June 21, 2018
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor FunctionRachel Salazar, Jacqueline Montes, Sally Dunaway Young, et al.
Neuromuscular Disorders : NMD|June 27, 2024
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMAGiorgia Coratti, Matthew Civitello, Annemarie Rohwer, et al.
Annals of Neurology|October 7, 2022
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal StudyVera Fridman, Stefan Sillau, Jacob Bockhorst, et al.
Neuromuscular Disorders : NMD|July 16, 2010
Clinical and genetic characterization of manifesting carriers of DMD mutationsPayam Soltanzadeh, Michael J Friez, Diane Dunn, et al.
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