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Author

Xinhong Feng

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Review Open access Aug 2026

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review

It is shown that SQSTM1-associated ALS predominantly presents with limb onset, with a subset of patients exhibiting frontotemporal dementia or Paget’s disease, and its pathogenicity remains uncertain and requires further functional validation and pedigree confirmation.

Boyan Su, Ling Li, Xiaoxiao Zheng et al. · 0 citations
Case report Open access Aug 2026

Wilson disease associated with a novel variant in the ATP7B gene

A novel deletion variant in a Wilson disease patient harboring compound heterozygous variants in ATP7B is identified, expanding the known spectrum of pathogenic ATP7B variants.

Lipeng Yang, Jun Li, Si Xie et al. · 0 citations