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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Cross-species insemination reveals mouse sperm ability to enter and cross the fish micropyle

跨物种授精实验表明,小鼠精子能够进入并穿过鱼卵孔。

Garibova, Suma; Stickler, Eva; AlAli, Fatima; Abdulla, Maha A; Sathappan, Abbirami; Da'as, Sahar I; Ghanem, Lillian; Djekidel, Mohamed Nadhir; Portman, Rick; Avella, Matteo

Seizure-like behavior and hyperactivity in napb knockout zebrafish as a model for autism and epilepsy.

napb基因敲除斑马鱼表现出类似癫痫的行为和多动症,可作为自闭症和癫痫的模型

Shin Kyung Chul, Hasan Waseem, Ali Gowher, Abdelrahman Doua, Abuarja Tala, Stanton Lawrence W, Da'as Sahar I, Park Yongsoo

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

对卡塔尔基因组参与者的意外发现进行分析,揭示了LMNA和DSP中的新型功能变异

Elfatih Amal, Da'as Sahar I, Abdelrahman Doua, Mbarek Hamdi, Mohammed Idris, Hasan Waseem, Fakhro Khalid A, Estivill Xavier, Mifsud Borbala

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

VWA1 基因中 10 bp 的祖先重复序列扩增导致隐性遗传性运动神经病

Pagnamenta Alistair T, Kaiyrzhanov Rauan, Zou Yaqun, Da'as Sahar I, Maroofian Reza, Donkervoort Sandra, Dominik Natalia, Lauffer Marlen, Ferla Matteo P, Orioli Andrea, Giess Adam, Tucci Arianna, Beetz Christian, Sedghi Maryam, Ansari Behnaz, Barresi Rita, Basiri Keivan, Cortese Andrea, Elgar Greg, Fernandez-Garcia Miguel A, Yip Janice, Foley A Reghan, Gutowski Nicholas, Jungbluth Heinz, Lassche Saskia, Lavin Tim, Marcelis Carlo, Marks Peter, Marini-Bettolo Chiara, Medne Livija, Moslemi Ali-Reza, Sarkozy Anna, Reilly Mary M, Muntoni Francesco, Millan Francisca, Muraresku Colleen C, Need Anna C, Nemeth Andrea H, Neuhaus Sarah B, Norwood Fiona, O'Donnell Marie, O'Driscoll Mary, Rankin Julia, Yum Sabrina W, Zolkipli-Cunningham Zarazuela, Brusius Isabell, Wunderlich Gilbert, Karakaya Mert, Wirth Brunhilde, Fakhro Khalid A, Tajsharghi Homa, Bönnemann Carsten G, Taylor Jenny C, Houlden Henry

Using Zebrafish for Investigating the Molecular Mechanisms of Drug-Induced Cardiotoxicity

利用斑马鱼研究药物诱导心脏毒性的分子机制

Zakaria, Zain Z; Benslimane, Fatiha M; Nasrallah, Gheyath K; Shurbaji, Samar; Younes, Nadin N; Mraiche, Fatima; Da'as, Sahar I; Yalcin, Huseyin C