日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

DAB1 非编码区插入五核苷酸 ATTTC 重复序列,定位于 SCA37,导致脊髓小脑性共济失调

Seixas Ana I, Loureiro Joana R, Costa Cristina, Ordóñez-Ugalde Andrés, Marcelino Hugo, Oliveira Cláudia L, Loureiro José L, Dhingra Ashutosh, Brandão Eva, Cruz Vitor T, Timóteo Angela, Quintáns Beatriz, Rouleau Guy A, Rizzu Patrizia, Carracedo Ángel, Bessa José, Heutink Peter, Sequeiros Jorge, Sobrido Maria J, Coutinho Paula, Silveira Isabel

Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12

脊髓小脑性共济失调12型的神经病理学和细胞发病机制

O'Hearn, Elizabeth E; Hwang, Hyon S; Holmes, Susan E; Rudnicki, Dobrila D; Chung, Daniel W; Seixas, Ana I; Cohen, Rachael L; Ross, Christopher A; Trojanowski, John Q; Pletnikova, Olga; Troncoso, Juan C; Margolis, Russell L

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

FXTAS在葡萄牙运动障碍患者中较为罕见:FMR1前突变可能与更广泛的表型相关。

Seixas, Ana I; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana M; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell L; Sequeiros, Jorge; Silveira, Isabel