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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

Elucidating binding hot spots and structural stability in sirtuin family proteins for selective inhibitors: a computational approach

阐明sirtuin家族蛋白的结合热点和结构稳定性,以开发选择性抑制剂:一种计算方法

Rawlins, Lettie E; Maroofian, Reza; Cannon, Stuart J; Daana, Muhannad; Zamani, Mina; Ghani, Shamsul; Leslie, Joseph S; Ubeyratna, Nishanka; Khan, Nasar; Khan, Hamid; Scardamaglia, Annarita; Cloarec, Robin; Khan, Shujaat Ali; Umair, Muhammad; Sadeghian, Saeid; Galehdari, Hamid; Al-Maawali, Almundher; Al-Kindi, Adila; Azizimalamiri, Reza; Shariati, Gholamreza; Ahmad, Faraz; Al-Futaisi, Amna; Rodriguez Cruz, Pedro M; Salazar-Villacorta, Ainara; Ndiaye, Moustapha; Diop, Amadou G; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Zaki, Maha S; Vona, Barbara; Owrang, Daniel; Alhashem, Abdullah M; Obeid, Makram; Khan, Amjad; Beydoun, Ahmad; Najjar, Marwan; Tajsharghi, Homa; Zifarelli, Giovanni; Bauer, Peter; Hakami, Wejdan S; Al Hashem, Amal M; Boustany, Rose-Mary N; Burglen, Lydie; Alavi, Shahryar; Gunning, Adam C; Owens, Martina; Karimiani, Ehsan G; Gleeson, Joseph G; Milh, Mathieu; Salah, Somaya; Khan, Jahangir; Haucke, Volker; Wright, Caroline F; McGavin, Lucy; Elpeleg, Orly; Shabbir, Muhammad I; Houlden, Henry; Ebner, Michael; Baple, Emma L; Crosby, Andrew H; Dhar, Atika; Kitani, Atsushi; Strober, Warren; Bohall, Bradley S; Gorbis, Alexander; Gorbis, Eda; Chopra, Pradeep; Kandeel, Samah; El-Beltagi, Eman M; Wang, Wei-ren; Yan, Lin; Zhao, Chuan-ying; He, Cong-cong; Gao, Xing-Hua; Li, Linhui; Zhang, Shuangxi; Yue, Jianghuan; Wang, Xiuli; Li, Cuiting; Wang, Lulu; Li, Xiaoling; Lin, Aifen; Yan, Wei-Hua; Ouyang, Chaowei; Zhang, Dandan; Lei, Changbin; Morey, Manoviraj Gajendra; Illanad, Gouri H; Rasool, Mahaboobkhan; Chooklin, Serge; Chuklin, Serhii; An, Lina; Han, Yidi; Sun, Xiaohui; Wang, Lili; Guo, Lei; Long, Yu; Li, Dan; Jian, Xuemin; Yang, Zhi; Leng, Ting; Wang, Xilian; Zhang, Wanxue; Ge, Xinyun; Li, Nan; Yin, Yuan; Li, Xiaoan; Wang, Chunying; Zhang, Meihua; Bode, Erik L; Krasniqi, Samanda; Rosenthal, Annika; Friedel, Eva; Schlagenhauf, Florian; Sebold, Miriam; Wei, Hongxia; Li, Zhe; Liu, Zi'ang; Wu, Baofeng; Li, Ru; Xu, Ming; Yang, Xifeng; Yin, Jianhong; Zhang, Yi; Liu, Yunfeng; Kitase, Yukiko; Ji, Jia; Bonewald, Lynda F; Prideaux, Matthew; Roh, Hyun Cheol; Peng, Gang; Lin, Ying; Wen, Deng-tai; Huang, Jianhuang; Wang, Qixiu; Chen, Jianning; Parri, Muralidhar; Singh, Kiratmeet; Xing, Yun; Liu, Jiaxin; Wu, Linrui; Zhang, Ke; Yang, Shengbo; Srisuwan, Tanida; Kornsuthisopon, Chatvadee; Nowwarote, Nunthawan; Zhu, Xiaofei; Dissanayaka, Waruna Lakmal; Osathanon, Thanaphum; Sun, Jingjing; Zhang, Kai; Li, Panpan; Xu, Wenyue; Ding, Kaimo; Zhang, Bidan; Zhao, Bei; Zhang, Danwei; Sirajo, Mujittapha Umar; Obie, Rukevwe; Mukhtar, Abubakar I; Abdullahi, Nasiru M; Taniyohwo, Enaohwo M; Oyem, John C; Badamasi, Ibrahim M; Deb, Vishal Kumar; Mukherjee, Abhishek; Pathak, Surajit; Paul, Sujay; Duttaroy, Asim K; Adhikari, Suman; Gao, Huiquan; Ma, Tao; Jiang, Qinqin; Gao, Lanfang; Li, Jinfang; Wang, Shubo; Liu, Ziyong; Zhang, Zhixin; Wu, Gang; He, Wenxin; Zhou, Fuxin; Xu, XiuRong; Lai, JiuXin; Cheng, Shiming; Shuai, Qi; Tian, Jun; Yang, Wenlong; Huang, Santing; Tutu, Paul; Altamura, Gennaro; Daraban Bocaneti, Florentina; Hritcu, Ozana Maria; Pasca, Aurelian-Sorin; Dascalu, Mihaela Anca; Horodincu, Loredana; Tanase, Oana Irina; Mares, Mihai; Borzacchiello, Giuseppe; Yang, Guanhao; Huang, Xuan; Qiu, Duorun; Wang, Anzhao; Liu, Denghui; Liu, Zhongtang; Nuccio, Daniel A; Grippo, Angela; Singh, Pallavi; Gao, Xiaomeng; Wu, Yihan; Zheng, Ronglian; Kou, Yining; Xing, Huili; Li, Kun; Zhang, Meng; Priyadharshini, Eswaran; Sandhya, Maddi; Anand, Theerthagiri; Angamuthu, Mahalingam; Murugan, Marimuthu; Tharmalingam, Nagendran; Senthilraja, Govindasamy; Meng, Yonghui; He, Jinjun; Yan, An; Che, Bangwei; Tang, Kaifa; Zhang, Tao; Vukić, Dragana; Du, Qiupei; Cherian, Anna; Amoruso, Damiano; Brožinová, Květoslava; Wacheul, Ludivine; Lacovich, Valentina; Zorbas, Christiane; Yadav, Leena; Sedmík, Jiří; Keskitalo, Salla; Hajji, Khadija; Stejskal, Stanislav; Varjosalo, Markku; Lafontaine, Denis L J; Keegan, Liam P; O’Connell, Mary A; Allichon, Marie-Charlotte; Espinosa, Jeanne; Cole, Rebecca H; Ko, Mei-Chuan; Vanhoutte, Peter; Joffe, Max E; Abd El-kader, Marwa; Farrag, Eman A E; El-Gamal, Randa; El Nashar, Eman Mohamed; Alshehri, Areej M; Aldahhan, Rashid A; Al-khater, Khulood M; El-Desouky, Sara; El-Sherbeni, M W; Ebrahim, Neven A; Truitt, Kate; Walsh, McKenna E; Dalton, Michelle R; Cai, Jiali; Zhang, Yaojian; Zhang, Tian; Wu, Mengyi; Wang, Dijun; Yin, Chunyan; Nie, Xueke; Chen, Lan; Sun, Zhihu; Liu, Chanming; Yan, Xiaojing; Kong, Weihao; Wang, Jiawen; Zhang, Kangjie; Wang, Xingyu; Zhang, Jianlin; Sharma, Deepak; Muniyan, Rajiniraja

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients

伊朗东部患者原发性免疫缺陷疾病的遗传和流行病学模式

Salehi, Mohammad; Ahanchian, Hamid; Karimiani, Ehsan Ghayoor; Aelami, Mohammad Hassan; Moazzen, Nasrin; Neshati, Zeinab; Pasdar, Alireza

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

扩大遗传性痉挛性截瘫的范围:脑瘫模拟中的双等位基因 SPAST 变异。

Nolasco Gregorio A, Roldán Mònica, Jamshidi Yalda, Georvasilis Ioannis, Rodríguez Rocío Jadraque, Boostani Reza, Shoeibi Ali, Armengol Lluís, Codina Anna, Karimiani Ehsan Ghayoor, Hernando-Davalillo Cristina, Martorell Loreto, Ramírez Almaraz María Luisa, Muchart Jordi, Ortez Carlos, Nascimento Andrés, Urreizti Roser, Natera-de Benito Daniel, Serrano Mercedes

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations

揭开 PEX6 的神秘面纱:深入了解儿童人群中极长链脂肪酸水平和过氧化物酶体生物合成障碍

Ahangari, Najmeh; Shirvan, Bita Barazandeh; Ashrafzadeh, Farah; Karimiani, Ehsan Ghayoor; Hashemi, Narges; Imannezhad, Shima; Kalat, Hashem Lashgari; Ebrahimzadeh, Farnoosh; Akhondian, Javad; Toosi, Mehran Beiraghi

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

A programmed decline in ribosome levels governs human early neurodevelopment

核糖体水平的程序性下降控制着人类早期神经发育。

Chunyang Ni # ,Yudong Wei # ,Barbara Vona # ,Dayea Park ,Yulei Wei ,Daniel A Schmitz ,Yi Ding ,Masahiro Sakurai ,Emily Ballard ,Leijie Li ,Yan Liu ,Ashwani Kumar ,Chao Xing ,Shenlu Qin ,Sangin Kim ,Martina Foglizzo ,Jianchao Zhao ,Hyung-Goo Kim ,Cumhur Ekmekci ,Ehsan Ghayoor Karimiani ,Shima Imannezhad ,Fatemeh Eghbal ,Reza Shervin Badv ,Eva Maria Christina Schwaibold ,Mohammadreza Dehghani ,Mohammad Yahya Vahidi Mehrjardi ,Zahra Metanat ,Hosein Eslamiyeh ,Ebtissal Khouj ,Saleh Mohammed Nasser Alhajj ,Aziza Chedrawi ,Khushnooda Ramzan ,Jamil A Hashmi ,Majed M Alluqmani ,Sulman Basit ,Danai Veltra ,Nikolaos M Marinakis ,Georgios Niotakis ,Pelagia Vorgia ,Christalena Sofocleous ,Hane Lee ,Won Chan Jeong ,Muhammad Umair ,Muhammad Bilal ,César Augusto Pinheiro Ferreira Alves ,Matthew Sieber ,Michael Kruer ,Henry Houlden ,Fowzan S Alkuraya ,Elton Zeqiraj ,Roger A Greenberg ,Can Cenik ,Leqian Yu ,Reza Maroofian ,Jun Wu ,Michael Buszczak

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients

Epg5 与果蝇和维奇综合征患者中自噬清除缺陷导致的蛋白毒性应激和癫痫发生有关

Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, Aitana Martinez-Cotrina, David Mazaud, Seo Hyun Park, Virginia Vergani, Amanda Almacellas Barbanoj, Reza Maroofian, Luisa Averdunk, Ehsan Ghayoor-Karimiani, Sandeep Jayawant, Cyril Mignot, Boris Keren, Renate Peters, Arveen Kamath, Lauren Mattas,

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

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs.

人类 TRMT1 和 TRMT1L 旁系同源物确保 tRNA 的正确修饰状态、稳定性和功能

Zhang Kejia, Manning Aidan C, Lentini Jenna M, Howard Jonathan, Dalwigk Felix, Maroofian Reza, Efthymiou Stephanie, Chan Patricia, Eliseev Sergei I, Yang Zi, Chang Hayley, Karimiani Ehsan Ghayoor, Bakhshoodeh Behnoosh, Houlden Henry, Kaiser Stefanie M, Lowe Todd M, Fu Dragony