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

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

神经系统疾病中的内源性大麻素功能障碍:神经眼DAGLA相关综合征

Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Qebibo, Leila; Wieczorek, Dagmar; Cravatt, Benjamin; Haricharan, Svasti; Torkamani, Ali; Friedman, Jennifer

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review

1D型脑桥小脑发育不全:病例报告及文献综述

Dabaj, Ivana; Hassani, Adnan; Burglen, Lydie; Qebibo, Leila; Guerrot, Anne-Marie; Marret, Stéphane; Tebani, Abdellah; Bekri, Soumeya

Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8

与 CHD8 基因致病性截断变异相关的儿童期起病进行性肌张力障碍

Doummar, Diane; Treven, Marco; Qebibo, Leila; Devos, David; Ghoumid, Jamal; Ravelli, Claudia; Kranz, Gottfried; Krenn, Martin; Demailly, Diane; Cif, Laura; Davion, Jean-Baptiste; Zimprich, Fritz; Burglen, Lydie; Zech, Michael

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

GGPS1基因突变导致肌营养不良/听力丧失/卵巢功能不全综合征

Foley, A Reghan; Zou, Yaqun; Dunford, James E; Rooney, Jachinta; Chandra, Goutam; Xiong, Hui; Straub, Volker; Voit, Thomas; Romero, Norma; Donkervoort, Sandra; Hu, Ying; Markello, Thomas; Horn, Adam; Qebibo, Leila; Dastgir, Jahannaz; Meilleur, Katherine G; Finkel, Richard S; Fan, Yanbin; Mamchaoui, Kamel; Duguez, Stephanie; Nelson, Isabelle; Laporte, Jocelyn; Santi, Mariarita; Malfatti, Edoardo; Maisonobe, Thierry; Touraine, Philippe; Hirano, Michio; Hughes, Imelda; Bushby, Kate; Oppermann, Udo; Böhm, Johann; Jaiswal, Jyoti K; Stojkovic, Tanya; Bönnemann, Carsten G