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Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.
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- Journal of Neurology, 2024, v. 271, n. 9, p. 6004, doi. 10.1007/s00415-024-12567-y
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- Article
Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study.
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- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 39, doi. 10.1002/jmd2.12404
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- Article
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 6, p. 708, doi. 10.1002/mus.28092
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- Article