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

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila

NLGN3自闭症变异体对果蝇的突触和睡眠行为具有不同的功能影响

Townsley, Rebekah E; Andrews, Jonathan C; Srivastav, Saurabh; Jangam, Sharayu V; Hannan, Shabab B; Kanca, Oguz; Yamamoto, Shinya; Wangler, Michael F

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

RAB3A杂合变异通过部分功能丧失机制导致小脑共济失调。

Hengel, Holger; Hannan, Shabab B; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H; Lundberg, Julie; Rodan, Lance H; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A; Reich, Stephen; Toro, Camilo; Züchner, Stephan; Hazan, Jamilé; Pétursson, Hjörvar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schöls, Ludger; Synofzik, Matthis

Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

Deger, Jennifer M; Hannan, Shabab B; Gu, Mingxue; Strohlein, Colleen E; Goodman, Lindsey D; Pasupuleti, Sasidhar; Shaik, Zahid; Ma, Liwen; Li, Yarong; Li, Jiayang; Stephens, Morgan C; Tyrlík, Michal; Liu, Zhandong; Al-Ramahi, Ismael; Botas, Juan; Shaw, Chad A; Kanca, Oguz; Bellen, Hugo J; Shulman, Joshua M

Editorial: Molecular and cellular pathways leading to mitochondrial dysfunction and neurodegeneration: lessons from in vivo models, volume II

社论:导致线粒体功能障碍和神经退行性变的分子和细胞通路:来自体内模型的启示,第二卷

Hannan, Shabab B; De Lazzari, Federica; Gomez-Duran, Aurora; Navarro, Juan A; Brea-Calvo, Gloria; Sanchez-Martinez, Alvaro

Revealing the nervous system requirements of Alzheimer's disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

Deger, Jennifer M; Hannan, Shabab B; Gu, Mingxue; Strohlein, Colleen E; Goodman, Lindsey D; Pasupuleti, Sasidhar; Shaik, Zahid; Ma, Liwen; Li, Yarong; Li, Jiayang; Stephens, Morgan C; Tyrlík, Michal; Liu, Zhandong; Al-Ramahi, Ismael; Botas, Juan; Shaw, Chad A; Kanca, Oguz; Bellen, Hugo J; Shulman, Joshua M

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

FRYL基因的新生突变与发育迟缓、智力障碍和面部畸形有关。

Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J

Editorial: Molecular and cellular pathways leading to mitochondrial dysfunction and neurodegeneration: Lessons from in vivo models

社论:导致线粒体功能障碍和神经退行性变的分子和细胞通路:来自体内模型的启示

Hannan, Shabab B; Sanchez-Martinez, Alvaro; Brea-Calvo, Gloria; Gomez-Duran, Aurora; Navarro, Juan A

Autophagy inhibition rescues structural and functional defects caused by the loss of mitochondrial chaperone Hsc70-5 in Drosophila

自噬抑制可挽救果蝇线粒体伴侣蛋白 Hsc70-5 缺失引起的结构和功能缺陷

Jun-Yi Zhu, Shabab B Hannan, Nina M Dräger, Natalia Vereshchagina, Ann-Christin Krahl, Yulong Fu, Christopher J H Elliott, Zhe Han, Thomas R Jahn, Tobias M Rasse

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

BCAS3基因的双等位基因功能缺失变异会导致一种综合征性神经发育障碍

Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y V; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger