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

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

CFL2 中的新型错义变异会影响 F-肌动蛋白解聚,并扩大 CFL2 相关肌病的疾病谱

Dofash Lein N H, Folland Chiara, Dyke Jason, Farhat Emna, Chaabouni Myriam, Miladi Najoua, Needham Merrilee, Lamont Phillipa J, Ashton Catherine, Ravenscroft Gianina

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

MED11 C 端纯合变异会导致致命的神经退行性疾病

Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Andrea Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

C2orf69 的缺失会导致人类和斑马鱼发生致命的自身炎症综合征,并引发与糖原储存相关的线粒体病。

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y T; Chia, Crystal Y; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M; Sirota, Fernanda L; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Çïmen, Deniz Uğurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Lainé, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yılmaz, Elanur; Xue, Shifeng; Coon, Joshua J; Nguyen Ly, Thanh Thao; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S; Isfort, Robert J; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Işıkay, Sedat; Gleeson, Joseph G; Lupski, James R; Casanova, Jean-Laurent; Pagliarini, David J; Akarsu, Nurten A; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S; Ho, Lena; Bard, Frederic A; Reversade, Bruno

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

SRY基因缺失导致的睾丸发育:SOX9和SOX3染色体重排

Vetro, Annalisa; Dehghani, Mohammad Reza; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada-Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, Sabrina; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Bonaglia, Maria Clara; Zuffardi, Orsetta

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

对突尼斯家族中无虹膜症和先天性白内障的PAX6基因进行分子分析

Chograni, Manèl; Derouiche, Kaouther; Chaabouni, Myriam; Lariani, Imen; Bouhamed, Habiba Chaabouni

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

在突尼斯患有白内障和智力障碍的家族中,编码先天性白内障并在人脑中表达的四个基因未发现突变。

Chograni, Manèl; Chaabouni, Myriam; Mâazoul, Faouzi; Bouzid, Hedi; Kraiem, Abdelhafid; Chaabouni, Habiba B Bouhamed