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Article

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2024

Cao Yuwen, Zheng Haoran, Zhu Zeyu, Yao Li, Tian Wotu, Cao Li

Abstract excerpt

BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully defined. OBJECTIVE: We aim to better characterize the clinical phenotypes and genetic features of HSP and to provide new thoughts on diagnosis. METHODS:...

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Identifiers

PMID: 38291924
DOI: 10.1002/mds.29728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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