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

Exploring first-degree family history in a cohort of Portuguese Alzheimer's disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors.

探索葡萄牙阿尔茨海默病患者群体的一级亲属家族史:X染色体连锁和隐性遗传风险因素的群体证据

Tábuas-Pereira Miguel, Bernardes Catarina, Durães João, Lima Marisa, Nogueira Ana Rita, Saraiva Jorge, Tábuas Teresa, Coelho Mariana, Paquette Kimberly, Westra Kaitlyn, Kun-Rodrigues Célia, Almeida Maria Rosário, Baldeiras Inês, Brás José, Guerreiro Rita, Santana Isabel

Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes

额颞叶痴呆患者群体中TP73基因的罕见变异与原发性进行性失语症表型相关。

Tábuas-Pereira, Miguel; Santana, Isabel; Almeida, Maria Rosário; Durães, João; Lima, Marisa; Duro, Diana; Kun-Rodrigues, Célia; Bras, Jose; Guerreiro, Rita

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation

全外显子组测序揭示PSEN1和ATP7B联合变异可能是早发性路易体痴呆的病因:基因型-表型相关性的案例研究

Tábuas-Pereira, Miguel; Guerreiro, Rita; Kun-Rodrigues, Célia; Almeida, Maria Rosário; Brás, José; Santana, Isabel

Whole-exome sequencing of Finnish patients with vascular cognitive impairment

对芬兰血管性认知障碍患者进行全外显子组测序

Mönkäre, Saana; Kuuluvainen, Liina; Kun-Rodrigues, Celia; Carmona, Susana; Schleutker, Johanna; Bras, Jose; Pöyhönen, Minna; Guerreiro, Rita; Myllykangas, Liisa

A comprehensive analysis of copy number variation in a Turkish dementia cohort

对土耳其痴呆症患者群体拷贝数变异的全面分析

Dehghani, Nadia; Guven, Gamze; Kun-Rodrigues, Celia; Gouveia, Catarina; Foster, Kalina; Hanagasi, Hasmet; Lohmann, Ebba; Samanci, Bedia; Gurvit, Hakan; Bilgic, Basar; Bras, Jose; Guerreiro, Rita

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice

PHACTR1 基因变异对小血管缺血性疾病患者和 C57BL/6J 小鼠中的 PcomA 募集并不重要

Clemens Messerschmidt, Marco Foddis, Sonja Blumenau, Susanne Müller, Kajetan Bentele, Manuel Holtgrewe, Celia Kun-Rodrigues, Isabel Alonso, Maria do Carmo Macario, Ana Sofia Morgadinho, Ana Graça Velon, Gustavo Santo, Isabel Santana, Saana Mönkäre, Liina Kuuluvainen, Johanna Schleutker, Minna Pöyhön

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

对路易体痴呆症中导致神经退行性疾病的基因进行分析

Orme, Tatiana; Hernandez, Dena; Ross, Owen A; Kun-Rodrigues, Celia; Darwent, Lee; Shepherd, Claire E; Parkkinen, Laura; Ansorge, Olaf; Clark, Lorraine; Honig, Lawrence S; Marder, Karen; Lemstra, Afina; Rogaeva, Ekaterina; St George-Hyslop, Peter; Londos, Elisabet; Zetterberg, Henrik; Morgan, Kevin; Troakes, Claire; Al-Sarraj, Safa; Lashley, Tammaryn; Holton, Janice; Compta, Yaroslau; Van Deerlin, Vivianna; Trojanowski, John Q; Serrano, Geidy E; Beach, Thomas G; Lesage, Suzanne; Galasko, Douglas; Masliah, Eliezer; Santana, Isabel; Pastor, Pau; Tienari, Pentti J; Myllykangas, Liisa; Oinas, Minna; Revesz, Tamas; Lees, Andrew; Boeve, Brad F; Petersen, Ronald C; Ferman, Tanis J; Escott-Price, Valentina; Graff-Radford, Neill; Cairns, Nigel J; Morris, John C; Pickering-Brown, Stuart; Mann, David; Halliday, Glenda; Stone, David J; Dickson, Dennis W; Hardy, John; Singleton, Andrew; Guerreiro, Rita; Bras, Jose

Genetic architecture of common non-Alzheimer's disease dementias

常见非阿尔茨海默病痴呆症的遗传结构

Guerreiro, Rita; Gibbons, Elizabeth; Tábuas-Pereira, Miguel; Kun-Rodrigues, Celia; Santo, Gustavo C; Bras, Jose

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

新型MAG变异导致小脑性共济失调伴眼动失用:分子基础和扩展临床表型

Mariana Santos ,Joana Damásio ,Célia Kun-Rodrigues ,Clara Barbot ,Jorge Sequeiros ,José Brás ,Isabel Alonso ,Rita Guerreiro

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

在患有轻型 I 型粘多糖贮积症的金毛寻回犬家族中,发现 IDUA 基因第 10 外显子缺失。

Faller, Kiterie M E; Ridyard, Alison E; Gutierrez-Quintana, Rodrigo; Rupp, Angie; Kun-Rodrigues, Celia; Orme, Tatiana; Tylee, Karen L; Church, Heather J; Guerreiro, Rita; Bras, Jose