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

Identification of putative kidney-derived proteins in plasma using nanoparticle enrichment

利用纳米颗粒富集技术鉴定血浆中推测的肾脏来源蛋白

Key Planas, Daniela A; Nazli, Sumaiya; Riojas, Angelica M; Reyes, Arisbeth Camarillo; Jadhav, Avinash; Zimmerman, Kip; Cox, Laura A; Olivier, Michael

A machine learning model of lamina propria fibrosis in eosinophilic esophagitis for prediction of fibrostenotic disease

嗜酸性食管炎固有层纤维化的机器学习模型用于预测纤维狭窄性疾病

Sivasubramaniam, Priyadharshini; Shabaan, Abdelrahman; Elhalaby, Rofyda; Hasan, Bashar; Patil, Ameya A; Nazli, Saadiya; DaCosta, Adilson; Park, Byoung Uk; Smith, Lindsey; Mounajjed, Taofic; Lagana, Stephen M; Codipilly, Chamil; Hopson, Puanani; Absah, Imad; Hartley, Christopher P; Graham, Rondell P; Moreira, Roger K

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

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia

痉挛性共济失调综合评分(SPAXCOM):用于评估痉挛和共济失调患者病情进展的量表

Di Folco, Cécile; Dubec-Fleury, Charlotte; Traschütz, Andreas; Kessler, Christoph; Reich, Selina; Gagnon, Cynthia; Lessard, Isabelle; Rodrigue, Xavier; Cocozza, Sirio; Satolli, Sara; Santorelli, Filippo M; Durr, Alexandra; Heinzmann, Anna; van de Warrenburg, Bart P; Willemse, Ilse H J; Başak, A Nazli; Vural, Atay; Brais, Bernard; Klebe, Stephan; Horvath, Rita; Schüle, Rebecca; Synofzik, Matthis; Tezenas du Montcel, Sophie

Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study

肌萎缩侧索硬化症 (ALS) 症状前和早期疾病特征的识别:premodiALS 研究方案

Tzeplaeff, Laura; Galhoz, Ana; Meijs, Clara; Caldi Gomes, Lucas; Kovac, Andrej; Menzel, Amrei; Değirmenci, Hatice; Alaamel, Abir; Kaya, Hüseyin Can; Çelik, Ali Günalp; Dinçer, Sine; Korucuk, Meltem; Karaüzüm, Sibel Berker; Bayraktar, Elif; Çiftçi, Vildan; Bilge, Uğur; Koç, Filiz; Demleitner, Antonia F; Buchberger, Anne; von Heynitz, Ricarda; Gmeiner, Vincent; Knellwolf, Christina; Mouzouri, Mohammed; Wuu, Joanne; Başak, A Nazli; Andersen, Peter Munch; Kohlmayer, Florian; Ashton, Nicholas J; Kuban, Wojciech; Lenz, Christof; Rogers, Mary-Louise; Zilka, Norbert; Corcia, Philippe; Lerner, Yossef; Weber, Markus; Turcanova Koprusakova, Monika; Uysal, Hilmi; Benatar, Michael; Menden, Michael P; Lingor, Paul

Directed differentiation of functional corticospinal-like neurons from endogenous SOX6+/NG2+ cortical progenitors

定向分化功能性皮质脊髓样神经元,来自内源性 SOX6+/NG2+ 皮质祖细胞

Abdulkadir Ozkan, Hari K Padmanabhan, Seth L Shipman, Eiman Azim, Priyanka Kumar, Cameron Sadegh, A Nazli Basak, Jeffrey D Macklis

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project

建立在线资源以促进全球合作和弱势群体参与:MJFF全球遗传帕金森病项目的经验

Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A; Barkhuizen, Melinda; Basak, A Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Carmine Belin, Andrea; Carr, Jonathan; Clarimon, Jordi; Cornejo-Olivas, Mario; Correia Guedes, Leonor; Corvol, Jean-Christophe; Crosiers, David; Damásio, Joana; Das, Parimal; de Carvalho Aguiar, Patricia; De Rosa, Anna; Dorszewska, Jolanta; Ertan, Sibel; Ferese, Rosangela; Ferreira, Joaquim; Gatto, Emilia; Genç, Gençer; Giladi, Nir; Gómez-Garre, Pilar; Hanagasi, Hasmet; Hattori, Nobutaka; Hentati, Faycal; Hoffman-Zacharska, Dorota; Illarioshkin, Sergey N; Jankovic, Joseph; Jesús, Silvia; Kaasinen, Valtteri; Kievit, Anneke; Klivenyi, Peter; Kostic, Vladimir; Koziorowski, Dariusz; Kühn, Andrea A; Lang, Anthony E; Lim, Shen-Yang; Lin, Chin-Hsien; Lohmann, Katja; Markovic, Vladana; Martikainen, Mika Henrik; Mellick, George; Merello, Marcelo; Milanowski, Lukasz; Mir, Pablo; Öztop-Çakmak, Özgür; Pimentel, Márcia Mattos Gonçalves; Pulkes, Teeratorn; Puschmann, Andreas; Rogaeva, Ekaterina; Sammler, Esther M; Skaalum Petersen, Maria; Skorvanek, Matej; Spitz, Mariana; Suchowersky, Oksana; Tan, Ai Huey; Termsarasab, Pichet; Thaler, Avner; Tumas, Vitor; Valente, Enza Maria; van de Warrenburg, Bart; Williams-Gray, Caroline H; Wu, Ruey-Mei; Zhang, Baorong; Zimprich, Alexander; Solle, Justin; Padmanabhan, Shalini; Klein, Christine

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

全基因组DNA甲基化研究显示,ALS患者的代谢、炎症和胆固醇通路均发生改变。

Hop, Paul J; Zwamborn, Ramona A J; Hannon, Eilis; Shireby, Gemma L; Nabais, Marta F; Walker, Emma M; van Rheenen, Wouter; van Vugt, Joke J F A; Dekker, Annelot M; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Moisse, Matthieu; Baird, Denis; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E; Shaw, Pamela J; Basak, A Nazli; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Mora Pardina, Jesus S; Salas, Teresa; Dion, Patrick; Ross, Jay P; Henderson, Robert D; Mathers, Susan; McCombe, Pamela A; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B; Pamphlett, Roger; Mather, Karen A; Sachdev, Perminder S; Furlong, Sarah; Garton, Fleur C; Henders, Anjali K; Lin, Tian; Ngo, Shyuan T; Steyn, Frederik J; Wallace, Leanne; Williams, Kelly L; Neto, Miguel Mitne; Cauchi, Ruben J; Blair, Ian P; Kiernan, Matthew C; Drory, Vivian; Povedano, Monica; de Carvalho, Mamede; Pinto, Susana; Weber, Markus; Rouleau, Guy A; Silani, Vincenzo; Landers, John E; Shaw, Christopher E; Andersen, Peter M; McRae, Allan F; van Es, Michael A; Pasterkamp, R Jeroen; Wray, Naomi R; McLaughlin, Russell L; Hardiman, Orla; Kenna, Kevin P; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; van den Berg, Leonard H; Van Damme, Philip; Mill, Jonathan; Veldink, Jan H

Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes

PRDX3疾病的扩展:发病年龄范围广泛,且可见幕下MRI信号改变。

Rebelo, Adriana P; Bender, Benjamin; Haack, Tobias B; Zuchner, Stephan; Basak, A Nazli; Synofzik, Matthis

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

新发和显性遗传的SPTAN1基因突变导致痉挛性截瘫和小脑共济失调

Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G; Klein, Katrin; Rautenberg, Maren; Guillot-Noël, Léna; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W; Sobrido, María-Jesús; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M; Timmerman, Vincent; Haack, Tobias B; Züchner, Stephan; Schüle, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A Nazli; Baets, Jonathan