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

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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings

两名伊朗兄妹患有与FITM2相关的西迪基综合征

Ahmadi, Raha; Bavarsad, Mohammad Javad; Feizollah Jani, Meysam; Azizimalamiri, Reza

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

BORCS8双等位基因变异会导致婴儿期发病的神经退行性疾病,并伴有溶酶体动力学改变。

De Pace, Raffaella; Maroofian, Reza; Paimboeuf, Adeline; Zamani, Mina; Zaki, Maha S; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Zeighami, Jawaher; Williamson, Chad D; Fleming, Emily; Zhou, Dihong; Gannon, Jennifer L; Thiffault, Isabelle; Roze, Emmanuel; Suri, Mohnish; Zifarelli, Giovanni; Bauer, Peter; Houlden, Henry; Severino, Mariasavina; Patten, Shunmoogum A; Farrow, Emily; Bonifacino, Juan S

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

编码钠依赖性碳酸氢盐转运蛋白的SLC4A10基因的双等位基因变异会导致神经发育障碍

Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K; Calame, Daniel G; Misra, Vinod K; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M; Emrick, Lisa; Chung, Wendy K; Hellmich, Ute A; Schmidts, Miriam; Lupski, James R; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

伊朗早发性遗传性共济失调的遗传基础:异质人群国家登记的结果

Nejat Mahdieh #, Morteza Heidari #, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran

Migraine and Epilepsy in Children: A Narrative Review of Comorbidity and Similar Treatment Option

儿童偏头痛和癫痫:合并症及相似治疗方案的叙述性综述

Momen, Ali Akbar; Jelodar, Gholamreza; Azizimalamiri, Reza

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina