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Article

Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2017

Chadi Gerson, Maximino Jessica Ruivo, Jorge Frederico Mennucci de Haidar, Borba Fabrício Castro de, Gilio Joyce Meire, Callegaro Dagoberto, Lopes Camila Galvão, Santos Samantha Nakamura Dos, Rebelo Gabriela Natania Sales

Abstract excerpt

OBJECTIVE: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population. METHODS: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n = 39) and SALS (n = 189) subjects from the Research Centre of the University of São Paulo School of Medicine. All patients...

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Source

Identifiers

PMID: 27978769
DOI: 10.1080/21678421.2016.1254245

Genes

TARDBP
VAPB
FUS
SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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