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novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
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- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4255, doi. 10.1093/hmg/ddac170
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Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 102, doi. 10.1111/jns.12375
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- Article