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

Alterations in insulin-like growth factor system in spinal muscular atrophy

脊髓性肌萎缩症中胰岛素样生长因子系统的改变

Ayse Yesbek Kaymaz, Sevgi Kostel Bal, Gamze Bora, Beril Talim, Alev Ozon, Ayfer Alikasifoglu, Haluk Topaloglu, Hayat Erdem Yurter

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

巨尖肌先天性肌营养不良症患者人类原代骨骼肌细胞线粒体裂变减少,能量代谢受损

Evrim Aksu-Menges, Cemil Can Eylem, Emirhan Nemutlu, Merve Gizer, Petek Korkusuz, Haluk Topaloglu, Beril Talim, Burcu Balci-Hayta

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

HEATR5B 的双等位基因亚效等位基因突变(编码含 HEAT 重复序列的蛋白质 5B)导致小脑桥脑发育不全的神经系统综合征

Shereen G Ghosh #, Martin W Breuss #, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley, F Mujgan Sonmez, Haluk Topaloglu, Maha S Zaki, Heba Hosny, Shaimaa Gad, Joseph G Gleeson

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

ATPase氨基磷脂转运蛋白ATP8A2的错义突变与小脑萎缩和四足行走有关

Onur Emre Onat ,Suleyman Gulsuner, Kaya Bilguvar, Ayse Nazli Basak, Haluk Topaloglu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik

MAN1B1 deficiency: an unexpected CDG-II

MAN1B1 缺陷:意外的 CDG-II

Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

与进行性肌阵挛性癫痫相关的脊髓性肌萎缩是由 ASAH1 基因突变引起的

Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Monica Bayes, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu-Abadie, Ivo Gut, Thierry Levade, Haluk Topaloglu, Judith Melki

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

纯合性作图和靶向基因组测序揭示了近亲家族中导致小脑发育不全和四足行走的基因

Suleyman Gulsuner ,Ayse Begum Tekinay, Katja Doerschner, Huseyin Boyaci, Kaya Bilguvar, Hilal Unal, Aslihan Ors, O Emre Onat, Ergin Atalar, A Nazli Basak, Haluk Topaloglu, Tulay Kansu, Meliha Tan, Uner Tan, Murat Gunel, Tayfun Ozcelik