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

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

HNRNPA1 突变的特征决定了致病机制和临床表现的多样性

Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O'Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M Fare, Lauren E Drake, Alice F Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C Voermans, Richard Jlf Lemmers, Silvère M van der Maarel, Devo

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

组氨酰-tRNA合成酶底物相互作用缺陷与显性轴突周围神经病变相关

Abbott, Jamie A; Meyer-Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N; Griffin, Laurie B; Alberti, M Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel-Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E; Espinós, Carmen; Demeler, Borries; Antonellis, Anthony; Francklyn, Christopher

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

SLC5A7 截断突变是多种显性遗传性运动神经病的基础。

Salter, Claire G; Beijer, Danique; Hardy, Holly; Barwick, Katy E S; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A; McEntagart, Meriel M; Chioza, Barry A; Blakely, Randy D; Chilton, John K; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L; Walk, David; Crosby, Andrew H

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

复发性 WARS 突变是常染色体显性远端遗传性运动神经病的新病因

Pei-Chien Tsai, Bing-Wen Soong, Inès Mademan, Yen-Hua Huang, Chia-Rung Liu, Cheng-Tsung Hsiao, Hung-Ta Wu, Tze-Tze Liu, Yo-Tsen Liu, Yen-Ting Tseng, Kon-Ping Lin, Ueng-Cheng Yang, Ki Wha Chung, Byung-Ok Choi, Garth A Nicholson, Marina L Kennerson, Chih-Chiang Chan, Peter De Jonghe, Tzu-Hao Cheng, Yi

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

多系统性SYNE1共济失调:证实其高发病率并扩展其突变和表型谱

Mademan, Inès; Harmuth, Florian; Giordano, Ilaria; Timmann, Dagmar; Magri, Stefania; Deconinck, Tine; Claaßen, Jens; Jokisch, Daniel; Genc, Gencer; Di Bella, Daniela; Romito, Silvia; Schüle, Rebecca; Züchner, Stephan; Taroni, Franco; Klockgether, Thomas; Schöls, Ludger; De Jonghe, Peter; Bauer, Peter; Consortium, Eoa; Baets, Jonathan; Synofzik, Matthis

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

突变型DNMT1的缺陷与一系列神经系统疾病有关。

Baets, Jonathan; Duan, Xiaohui; Wu, Yanhong; Smith, Gordon; Seeley, William W; Mademan, Inès; McGrath, Nicole M; Beadell, Noah C; Khoury, Julie; Botuyan, Maria-Victoria; Mer, Georges; Worrell, Gregory A; Hojo, Kaori; DeLeon, Jessica; Laura, Matilde; Liu, Yo-Tsen; Senderek, Jan; Weis, Joachim; Van den Bergh, Peter; Merrill, Shana L; Reilly, Mary M; Houlden, Henry; Grossman, Murray; Scherer, Steven S; De Jonghe, Peter; Dyck, Peter J; Klein, Christopher J

A novel AARS mutation in a family with dominant myeloneuropathy

一家族性显性脊髓神经病中发现新的AARS基因突变

Motley, William W; Griffin, Laurie B; Mademan, Inès; Baets, Jonathan; De Vriendt, Els; De Jonghe, Peter; Antonellis, Anthony; Jordanova, Albena; Scherer, Steven S

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

由于膜成形酶 atlastin GTPase 3 突变导致的感觉神经病,伴有骨质破坏

Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Jochen Hecht, Florian Barvencik, Thorsten Schinke, Sebastian Gießelmann, F Timo Beil, Adolf Pou-Serradell, Juan J Vílchez, Christian Beetz, Tine Deconinck, Vincent Timmerman, Christoph Kaether, Peter De Jonghe, Christian A Hübner,