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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena

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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders

TERT c.3150 G > C (p.K1050N):一种与端粒生物学疾病相关的德系犹太人创始变异

de Andrade, Kelvin César; Pinto, Emilia M; Zhao, Tianna; Zeigler, Logan P; Kim, Jung; Giri, Neelam; Haley, Jeremy S; McReynolds, Lisa J; Florez-Vargas, Oscar; Phillips, Aaron H; Kriwacki, Richard W; Akinniyi, Sherifa A; Cohen, Scott B; Emerson, Matthew R; Smelser, Diane T; Urban, Gretchen M; Fridman, Cintia; Zambetti, Gerard P; Bryan, Tracy M; Carey, David J; Garcia, Christine Kim; Stewart, Douglas R; Savage, Sharon A

The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training

HUGO临床基因组学和基因组医学教育调查:全球临床医生需要并希望接受基因组医学培训

Wray, Charles; Tobias, Edward S; Kumar, Dhavendra; Ayub, Qasim; Hamosh, Ada; Lopes-Cendes, Iscia; Hernandez, Luz Berenice Lopez; Hamed, Sherifa Ahmed

Evaluation of the efficacy of supplementary probiotic capsules with topical clobetasol propionate 0.05% versus topical clobetasol propionate 0.05% in the treatment of oral lichen planus (a randomized clinical trial)

评估补充益生菌胶囊联合局部0.05%丙酸氯倍他索与局部0.05%丙酸氯倍他索治疗口腔扁平苔藓的疗效(一项随机临床试验)

Kamal, Yasmine; Abdelwhab, Amira; Salem, Sherifa Tarek; Fakhr, Mariam

A comprehensive review of natural compounds and their structure-activity relationship in Parkinson's disease: exploring potential mechanisms

对天然化合物及其在帕金森病中的构效关系进行全面综述:探索潜在机制

Merghany, Rana M; El-Sawi, Salma A; Naser, Asmaa F Aboul; Ezzat, Shahira M; Moustafa, Sherifa F A; Meselhy, Meselhy R

Brain Health PRO: Evaluating a Web‐Based Multidomain Intervention to Improve Dementia Literacy and Self‐Efficacy

脑健康PRO:评估一项基于网络的、多领域的干预措施,以提高痴呆症患者的读写能力和自我效能感

Amoah, Linda Eva; Asare, Kwame Kumi; Dickson, Donu; Abankwa, Joana; Busayo, Abena; Bredu, Dorcas; Annan, Sherifa; Asumah, George Adu; Peprah, Nana Yaw; Asamoah, Alexander; Laurencia Malm, Keziah; Belleville, Sylvie; Anderson, Nicole D; Best, John R; Brewster, Paul WH; Durant, January; Kadri, Mohamed Abdelhafid; Lim, Andrew; Lupo, Jody‐Lynn; Montero‐Odasso, Manuel; Nygaard, Haakon B; Slack, Penelope J; Chertkow, Howard; Feldman, Howard H

Anti-protozoal potential of electrospun polymeric nanofiber composite membranes for treatment of contaminated drinking water

静电纺丝聚合物纳米纤维复合膜在处理受污染饮用水中的抗原生动物潜力

Shalaby, Thanaa Ibrahim; Gaafar, Maha Reda; Mady, Rasha Fadly; Mogahed, Nermine Mogahed Fawzy Hussein; Issa, Yasmin Amr; Korayem, Sherifa Mohamed; Hezema, Nehal Nassef

Case-based genomics education and training of neurologists: an Egyptian initiative

基于案例的基因组学教育和神经科医生培训:一项埃及倡议

Hamed, Sherifa Ahmed; ElHadad, Ali Farrag; Fawzy, Mohamad