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

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37

在脊髓小脑性共济失调37型中,Alu元件中插入ATTTC重复序列会过度激活神经发育增强子。

Loureiro, Joana R; Castro, Ana F; Figueiredo, Ana S; Eufrásio, Ana; Dhingra, Ashutosh; Galhardo, Mafalda; Marcelino, Hugo; Rodrigues, Catarina C; Sampaio, Paula; Azevedo, Maria; Sousa, Mafalda; Dória, Sofia; Rizzu, Patrizia; Heutink, Peter; Bessa, José; Silveira, Isabel

Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase

核苷酸重复序列扩增疾病研究进展:转录进入同步阶段

Figueiredo, Ana S; Loureiro, Joana R; Macedo-Ribeiro, Sandra; Silveira, Isabel

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

家族性小脑共济失调和肌萎缩侧索硬化症/额颞叶痴呆伴DAB1和C9ORF72重复扩增:一项为期18年的研究

Rosenbohm, Angela; Pott, Hendrik; Thomsen, Mirja; Rafehi, Haloom; Kaya, Sabine; Szymczak, Silke; Volk, Alexander E; Mueller, Kathrin; Silveira, Isabel; Weishaupt, Jochen H; Tönnies, Holger; Seibler, Philip; Zschiedrich, Katja; Schaake, Susen; Westenberger, Ana; Zühlke, Christine; Depienne, Christel; Trinh, Joanne; Ludolph, Albert C; Klein, Christine; Bahlo, Melanie; Lohmann, Katja

Joining European Scientific Forces to Face Pandemics

联合欧洲科学力量应对疫情

Vasconcelos, M Helena; Alcaro, Stefano; Arechavala-Gomeza, Virginia; Baumbach, Jan; Borges, Fernanda; Brevini, Tiziana A L; Rivas, Javier De Las; Devaux, Yvan; Hozak, Pavel; Keinänen-Toivola, Minna M; Lattanzi, Giovanna; Mohr, Thomas; Murovska, Modra; Prusty, Bhupesh K; Quinlan, Roy A; Pérez-Sala, Dolores; Scheibenbogen, Carmen; Schmidt, Harald H H W; Silveira, Isabel; Tieri, Paolo; Tolios, Alexander; Riganti, Chiara

The Expression of NTAL and Its Protein Interactors Is Associated With Clinical Outcomes in Acute Myeloid Leukemia

NTAL 及其蛋白相互作用物的表达与急性髓系白血病的临床结果相关

Carolina Hassibe Thomé, Germano Aguiar Ferreira, Diego Antonio Pereira-Martins, Guilherme Augusto Dos Santos, Douglas R Almeida-Silveira, Isabel Weinhäuser, Gustavo Antônio de Souza, Roos Houtsma, Jan Jacob Schuringa, Eduardo M Rego, Vitor M Faça

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

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

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

EMQN关于SCA分子遗传学检测的最佳实践指南

Sequeiros, Jorge; Martindale, Joanne; Seneca, Sara; Giunti, Paola; Kämäräinen, Outi; Volpini, Victor; Weirich, Helga; Christodoulou, Kyproula; Bazak, Nazli; Sinke, Richard; Sulek-Piatkowska, Anna; Garcia-Planells, Javier; Davis, Mark; Frontali, Marina; Hämäläinen, Petra; Wieczorek, Stefan; Zühlke, Christine; Saraiva-Pereira, Maria-Luiza; Warner, Jon; Leguern, Eric; Thonney, Francine; Quintáns Castro, Beatriz; Jonasson, Jenni; Storm, Katrien; Andersson, Anna; Ravani, Anna; Correia, Luís; Silveira, Isabel; Alonso, Isabel; Martins, Carla; Pinto Basto, Jorge; Coutinho, Paula; Perdigão, Andreia; Barton, David; Davis, Mary

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

脊髓小脑性共济失调10型(SCA10)中ATTCT重复扩增的祖先起源

Almeida, Teresa; Alonso, Isabel; Martins, Sandra; Ramos, Eliana Marisa; Azevedo, Luísa; Ohno, Kinji; Amorim, António; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Matsuura, Tohru; Sequeiros, Jorge; Silveira, Isabel