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Neurology. Genetics|February 25, 2025
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic ParaplegiaLuca Schierbaum, Vicente Quiroz, Kathryn Yang, et al.Neuromuscular Disorders : NMD|January 7, 2018
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethicsRichard S Finkel, Eugenio Mercuri, Oscar H Meyer, et al.JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, et al.Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.Neuromuscular Disorders : NMD|February 4, 2026
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith ScaleE Milev, G Stimpson, D Ramsey, et al.The New England Journal of Medicine|February 15, 2018
Nusinersen versus Sham Control in Later-Onset Spinal Muscular AtrophyEugenio Mercuri, Basil T Darras, Claudia A Chiriboga, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.Nature Medicine|June 17, 2022
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trialKevin A Strauss, Michelle A Farrar, Francesco Muntoni, et al.Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.Pageof 38