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

A transposase-derived gene required for human brain development

一种转座酶衍生的基因,是人类大脑发育所必需的

Zapater, Luz Jubierre; Lewis, Sara A; Gutierrez, Rodrigo Lopez; Yamada, Makiko; Rodriguez-Fos, Elias; Planas-Felix, Merce; Cameron, Daniel; Demarest, Phillip; Nabila, Anika; Mueller, Helen S; Zhao, Junfei; Bergin, Paul; Reed, Casie; Chwat-Edelstein, Tzippora; Pagnozzi, Alex; Nava, Caroline; Bourel-Ponchel, Emilie; Cornejo, Patricia; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Houlden, Henry; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Zifarelli, Giovanni; Bauer, Peter; Essid, Miriam; Benrhouma, Hanene; Hafsa, Meriem Ben; Kraoua, Ichraf; Galaz-Montoya, Carolina I; Proekt, Alex; Zhao, Xiaolan; Socci, Nicholas D; Hayes, Matthew; Bigot, Yves; Rabadan, Raul; Maroofian, Reza; Torrents, David; Kleinman, Claudia L; Kruer, Michael C; Toth, Miklos; Kentsis, Alex

Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease

代谢组学呼吸景观分析揭示了遗传性和特发性帕金森病患者的脂质生物标志物候选物

Malik, Madiha; Brüggemann, Norbert; Usnich, Tatiana; Borsche, Max; Demetrowitsch, Tobias; Laabs, Björn-Hergen; Schwarz, Karin; Bauer, Peter; Lohmann, Katja; Klein, Christine; Kunze, Thomas

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

致病性或可能致病性的GRN变异体在0.1%的帕金森病患者中被发现。

Ganoza, Christian A; Westenberger, Ana; Paul, Jefri J; Curado, Filipa; Rennecke, Jörg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-Ali, Ruslan; Laabs, Björn-Hergen; Csoti, Ilona; Valzania, Franco; Vandenberghe, Wim; Reetz, Katrin; Afshari, Mitra; Hassin-Baer, Sharon; Fonoff, Erich Talamoni; Gruber, Doreen; de Rosa, Anna; Musacchio, Thomas; de Carvalho Aguiar, Patricia; Negrotti, Anna; Tumas, Vitor; Gomez-Esteban, Juan Carlos; Gurevich, Tanya; Pavese, Nicola; Kulisevsky, Jaime; Sammler, Esther; Klein, Christine; Bauer, Peter; Beetz, Christian

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

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

Key Amino Acids Controlling pH Optima in Avian Chia Paralogs: Mechanistic Insights into Functional Divergence

控制禽类奇亚籽旁系同源基因pH最适值的关键氨基酸:功能分化的机制解析

Tabata, Eri; Suzuki, Keita; Suzuki, Yuki; Okawa, Kazuaki; Usui, Yuri; Kashimura, Akinori; Bauer, Peter O; Oyama, Fumitaka

Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients

人工智能预测帕金森病患者的GBA1基因突变状态

Di Rauso, Giulia; Ghibellini, Alessandro; Grisanti, Sara; Fioravanti, Valentina; Monfrini, Edoardo; Toschi, Giulia; Portaro, Giacomo; Argenziano, Giacomo; Bacchin, Ruggero; Rossi, Jessica; Sabadini, Rossella; Ferrari, Valeria; Melpignano, Andrea; Pacillo, Francesca; Scarano, Maria; Groppi, Anna; Gherardini, Luca; Lucchi, Chiara; Biagini, Giuseppe; Montepietra, Sara; Malaguti, Maria Chiara; Campanini, Isabella; Merlo, Andrea; Castellucci, Andrea; Ghidini, Angelo; Fraternali, Alessandro; Versari, Annibale; Scaglioni, Augusto; Paul, Jefri J; Bononi, Luciano; Gabbrielli, Maurizio; Di Fonzo, Alessio; Bauer, Peter; Cavallieri, Francesco; Valzania, Franco

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

GBA1 p.E427K (p.E388K) 变异是突触核蛋白病的一个风险因素:一项荟萃分析

Chifamba, Leah V; Parlar, Sitki Cem; Somerville, Emma N; Liu, Lang; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Ruskey, Jennifer A; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Miliukhina, Irina; Greenbaum, Lior; Hassin-Baer, Sharon; Goldstein, Orly; Radefeldt, Mandy; Bauer, Peter; Beetz, Christian; Dilliott, Allison A; Beck, James C; Senkevich, Konstantin; Klein, Christine; Alcalay, Roy N; Gan-Or, Ziv

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway

LGI1 和 ADAM23 的双等位基因变异通过 LGI1-ADAM22/23 通路导致海马癫痫性脑病。

Hirano, Yoko; Miyazaki, Yuri; Ishikawa, Daisuke; Inahashi, Hiroki; Al-Hassnan, Zuhair Nasser; Zifarelli, Giovanni; Bauer, Peter; Alvi, Javeria Raza; Sultan, Tipu; Thompson, Michelle L; Sezer, Abdullah; Konuşkan, Bahadır; Hajir, Razan S; El-Hattab, Ayman W; Efthymiou, Stephanie; Ishida, Ayuki; Yokoi, Norihiko; Kornau, Hans-Christian; Schmitz, Dietmar; Prüss, Harald; Houlden, Henry; Ikegaya, Yuji; Fukata, Yuko; Fukata, Masaki; Maroofian, Reza

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