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Article

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.

Journal of the neurological sciences - 15 Dec 2017

Burguez Daniela, Polese-Bonatto Márcia, Scudeiro Laís Alves Jacinto, Björkhem Ingemar, Schöls Ludger, Jardim Laura Bannach, Matte Ursula, Saraiva-Pereira Maria Luiza, Siebert Marina, Saute Jonas Alex Morales

Abstract excerpt

BACKGROUND: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes. METHODS: A consecutive series of HSP index cases with...

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Source

Identifiers

PMID: 29246610
DOI: 10.1016/j.jns.2017.10.010

Genes

SPG11
SPG7

Provenance

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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