Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and GNE[original query] |
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| Validation of GNE:p.M712T identification by melting curve analysis. Genetic testing 2008 Mar 12 (1): 101-9. Valles-Ayoub Yadira, Saechao Chai, Haghighatgoo Arman, Neshat Mehran S, Esfandiarifard Saghi, Pietruszka Marvin, Darvish Dani |
| Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. Genetic testing and molecular biomarkers 2013 May 17 (5): 376-82. No Daniel, Valles-Ayoub Yadira, Carbajo Rosangela, Khokher Zeshan, Sandoval Lucia, Stein Beth, Tarnopolsky Mark Andrew, Mozaffar Tahseen, Darvish Babak, Pietruszka Marvin, Darvish Dani |
| GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle & nerve 2018 9 58 (5): 700-707. Alrohaif Hadil, Pogoryelova Oksana, Al-Ajmi Abdullah, Aljeryan Lulwa A, Alrashidi Nuwayer H, Alefasi Sara A, Urtizberea Andoni, Lochmüller Hanns, Bastaki Lai |
| GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurology. Genetics 2019 3 5 (1): e308. Pogoryelova Oksana, Wilson Ian J, Mansbach Hank, Argov Zohar, Nishino Ichizo, Lochmüller Han |
| GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? Neuromuscular disorders : NMD 2023 9 . Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Arg |
| Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
| Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China. Journal of medical genetics 2024 9 . Kexin Jiao, Jialong Zhang, Qiuxiang Li, Xiaoqing Lv, Yanyan Yu, Bochen Zhu, Huahua Zhong, Xu'en Yu, Jia Song, Qing Ke, Fangyuan Qian, Xinghua Luan, Xiaojie Zhang, Xueli Chang, Liang Wang, Meirong Liu, Jihong Dong, Zhangyu Zou, Bitao Bu, Haishan Jiang, LingChun Liu, Yue Li, Dongyue Yue, Xuechun Chang, Yongsheng Zheng, Ningning Wang, Mingshi Gao, Xingyu Xia, Nachuan Cheng, Tao Wang, Su-Shan Luo, Jianying Xi, Jie Lin, Jiahong Lu, Chongbo Zhao, Huan Yang, Pengfei Lin, Daojun Hong, Zhe Zhao, Zhiqiang Wang, Wenhua Z |
| Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network. Neurology 2024 8 103 (4): e209697. Sara Bortolani, Marco Savarese, Gaetano Vattemi, Silvia Bonanno, Yuri M Falzone, Alessia Pugliese, Guido Primiano, Cristina Sancricca, Diego Lopergolo, Giulia Greco, Chiara Gemelli, Sabrina Ravaglia, Roberta P Bencivenga, Daniele Velardo, Francesca Magri, Maria L Valentino, Marta Cheli, Eleonora Torchia, Matteo Lucchini, Antonio Petrucci, Giulia Ricci, Matteo Garibaldi, Guja Astrea, Anna Rubegni, Corrado I Angelini, Alessandra Ariatti, Filippo M Santorelli, Alessandra Ruggieri, Giovanni Antonini, Gabriele Siciliano, Massimiliano Filosto, Massimiliano Mirabella, Rocco Liguori, Giacomo P Comi, Lucia Ruggiero, Marina Grandis, Roberto Massa, Alessandro Malandrini, Serenella Servidei, Tiziana E Mongini, Carmelo Rodolico, Antonio Toscano, Stefano C Previtali, Paola Tonin, Jordi Diaz-Manera, Mauro Monforte, Enzo Ricci, Lorenzo Maggi, Giorgio Tas |
| The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin. Frontiers in genetics 2024 12 15 1511304. Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazi |
| Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients. Neurology. Genetics 2024 11 10 (6): e200203. Haozhe Sun, Fuze Zheng, Jiaxi Yu, Lingchao Meng, Qiang Gang, He Lv, Wei Zhang, Yun Yuan, Meng Yu, Zhaoxia Wa |
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