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

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

神经节苷脂生物合成的改变是导致复杂性遗传性痉挛性截瘫的原因

Boukhris, Amir; Schule, Rebecca; Loureiro, José L; Lourenço, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andrés; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frédéric; Rouleau, Guy A; Marques, Wilson Jr; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni

Prevalence and pattern of cognitive impairment in rural and urban populations from Northern Portugal

葡萄牙北部农村和城市人口认知障碍的患病率和模式

Nunes, Belina; Silva, Ricardo D; Cruz, Vitor T; Roriz, Jose M; Pais, Joana; Silva, Maria C