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Article

Hereditary spastic paraparesis: The real-world experience from a Neurogenetics outpatient clinic.

European journal of medical genetics - 1 Mar 2022

Cunha Inês A, Ribeiro Joana A, Santos Maria Cj

Abstract excerpt

INTRODUCTION: Hereditary spastic paraplegias (HSP) are inherited disorders with progressive spastic gait disturbance. Advances in genetic research have improved their diagnosis but there is great uncertainty regarding the appropriate investigation strategies for HSPs. Our aim is to characterize a cohort of HSP, describing the phenotypic spectrum, genotype-specific differences and current functional status....

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Identifiers

PMID: 35065294
DOI: 10.1016/j.ejmg.2022.104430

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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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