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Frontiers in Neurology|January 4, 2021
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With DysferlinopathyUrsula Moore, Marni Jacobs, Roberto Fernandez-Torron, et al.Journal of Cachexia, Sarcopenia and Muscle|September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathyUrsula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 2, 2017
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1ARobert Fledrich, Manoj Mannil, Andreas Leha, et al.Neuromuscular Disorders : NMD|February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same diseaseUrsula Moore, Heather Gordish, Jordi Diaz-Manera, et al.Neurology. Clinical Practice|December 18, 2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and AvailabilityVictor D Armengol, Basil T Darras, Ahmad A Abulaban, et al.Brain : a Journal of Neurology|September 2, 2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita Horvath, John P Kemp, Helen A L Tuppen, et al.Neuromuscular Disorders : NMD|August 3, 2014
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patientsManoj Mannil, Alessandra Solari, Andreas Leha, et al.Brain : a Journal of Neurology|February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like featuresPablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.Disease Models & Mechanisms|November 19, 2021
A scalable, clinically severe pig model for Duchenne muscular dystrophyMichael Stirm, Lina Marie Fonteyne, Bachuki Shashikadze, et al.Pageof 16