Publications by authors named "Gabriela Natania Sales Rebelo"
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
Gerson Chadi Jessica Ruivo Maximino Frederico Mennucci de Haidar Jorge Fabrício Castro de Borba Joyce Meire Gilio Gabriela Natania Sales Rebelo
Amyotroph Lateral Scler Frontotemporal Degener
May 2017
Article Synopsis
- This study aimed to examine gene mutations associated with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis (ALS) within a diverse population in Brazil.
- Researchers analyzed specific genes (C9orf72, TARDBP, SOD1, FUS, VAPB) in a sample of 39 FALS and 189 SALS patients, finding a significantly higher mutation rate in FALS patients (61.3%) compared to SALS patients (5.3%).
- Key findings included prevalent mutations in C9orf72, VAPB, and SOD1 among FALS patients, with some SALS patients also showing C9orf72 mutations, while no FUS mutations were detected in