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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres.
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- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 1, p. 621, doi. 10.1002/jcsm.12835
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- Article
A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course.
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- Child Neurology Open, 2015, v. 2, n. 4, p. 1, doi. 10.1177/2329048X15609053
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- Article
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
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- Human Mutation, 2010, v. 31, n. 1, p. E1110, doi. 10.1002/humu.21173
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- Article