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

LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond

LRSAM1 和 RING 结构域:夏科-马里-图斯病及其他

Palaima, Paulius; Berciano, José; Peeters, Kristien; Jordanova, Albena

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

南美洲一例由HINT1基因突变引起的轴突神经病伴神经肌强直:病例报告

de Aguiar Coelho Silva Madeiro, Bianca; Peeters, Kristien; Santos de Lima, Elker Lene; Amor-Barris, Silvia; De Vriendt, Els; Jordanova, Albena; Cartaxo Muniz, Maria Tereza; da Cunha Correia, Carolina

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

周围髓鞘蛋白 2 - 导致夏科-马里-图斯神经病的新型突变簇

Palaima Paulius, Chamova Teodora, Jander Sebastian, Mitev Vanyo, Van Broeckhoven Christine, Tournev Ivailo, Peeters Kristien, Jordanova Albena

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

鞘氨醇-1-磷酸裂解酶缺乏症会导致夏科-马里-图斯神经病

Atkinson Derek, Nikodinovic Glumac Jelena, Asselbergh Bob, Ermanoska Biljana, Blocquel David, Steiner Regula, Estrada-Cuzcano Alejandro, Peeters Kristien, Ooms Tinne, De Vriendt Els, Yang Xiang-Lei, Hornemann Thorsten, Milic Rasic Vedrana, Jordanova Albena

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

SMN1阴性近端脊髓性肌萎缩症的临床和遗传多样性

Peeters, Kristien; Chamova, Teodora; Jordanova, Albena

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

运动适应蛋白BICD2的分子缺陷会导致近端脊髓性肌萎缩症,其遗传方式为常染色体显性遗传。

Peeters, Kristien; Litvinenko, Ivan; Asselbergh, Bob; Almeida-Souza, Leonardo; Chamova, Teodora; Geuens, Thomas; Ydens, Elke; Zimoń, Magdalena; Irobi, Joy; De Vriendt, Els; De Winter, Vicky; Ooms, Tinne; Timmerman, Vincent; Tournev, Ivailo; Jordanova, Albena

Genetic spectrum of hereditary neuropathies with onset in the first year of life

出生后第一年发病的遗传性神经病的遗传谱

Baets, Jonathan; Deconinck, Tine; De Vriendt, Els; Zimoń, Magdalena; Yperzeele, Laetitia; Van Hoorenbeeck, Kim; Peeters, Kristien; Spiegel, Ronen; Parman, Yesim; Ceulemans, Berten; Van Bogaert, Patrick; Pou-Serradell, Adolf; Bernert, Günther; Dinopoulos, Argirios; Auer-Grumbach, Michaela; Sallinen, Satu-Leena; Fabrizi, Gian Maria; Pauly, Fernand; Van den Bergh, Peter; Bilir, Birdal; Battaloglu, Esra; Madrid, Ricardo E; Kabzińska, Dagmara; Kochanski, Andrzej; Topaloglu, Haluk; Miller, Geoffrey; Jordanova, Albena; Timmerman, Vincent; De Jonghe, Peter