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Fatemeh Barshooi on Muck Rack

Fatemeh Barshooi

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Articles

Variable phenotypic manifestations of two splice-site variants in DNAJB2 : insights from two families and a systematic review

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By Aida Ghasemi, Shahriar Nafissi, Afagh Alavi, Fatemeh Ghermezcheshmeh, Nazila Malekian, Fatemeh Barshooi
| Nature Verified
Abstract DNAJB2 encodes an HSP40 co‑chaperone involved in protein quality control and maintenance of neuronal proteostasis. Pathogenic variants in this gene, typically inherited in an autosomal recessive manner, cause hereditary motor neuropathy (HMN), Charcot-Marie-Tooth disease (CMT), and other neuromuscular disorders.
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