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Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy2025 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Esther J. Schrama, Zaïda Koeks, Nienke M. van de Velde, Iris Alleman, Jules J. van Benthem, Pieteke W. van Weperen, +8 more
2citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders2026 Journal of Inherited Metabolic Disease article Medicine Lysosomal Storage Disorders Research Open access
Éamon P McCarron, Nenad Blau, Emily R. Eden, Frances M. Platt, Johannes M. F. G. Aerts, Simon Allan Jones, +2 more
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Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review2025 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Joep Simons, A.J.R. De Bie Dekker, Rosanne Govaarts, Anna Sárközy, Christian Windpassinger, Saskia L.S. Houwen-van Opstal, +1 more
0citations