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Xiuli Li

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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