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Neurology. Clinical Practice|June 25, 2024
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis ConsiderationsMary Schroth, Jennifer Deans, Kapil Arya, et al.
Plos Currents|January 19, 2013
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalPauline McCormack, Simon Woods, Annemieke Aartsma-Rus, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
American Journal of Physiology. Cell Physiology|May 1, 2026
Ribosome dynamics during skeletal muscle repair and regeneration in mice and humansMinying Cui, Sebastian Edman, Baptiste Jude, et al.
Plos One|March 18, 2020
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filamentsDiana Cimiotti, Setsuko Fujita-Becker, Desirée Möhner, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 15, 2024
2024 update: European consensus statement on gene therapy for spinal muscular atrophyJanbernd Kirschner, Günther Bernert, Nina Butoianu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 12, 2026
Transition from paediatric to adult care in paediatric-onset neurological disorders in Europe: A survey and scoping reviewDana Craiu, Maria T Papadopoulou, Jasna Orazem Mrak, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 1, 2025
Transition of patients with Duchenne muscular dystrophy from paediatric to adult care: An international Delphi consensus studyDiana Castro, Thomas Sejersen, Luca Bello, et al.
Neuromuscular Disorders : NMD|January 2, 2018
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional careEugenio Mercuri, Richard S Finkel, Francesco Muntoni, et al.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
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