Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Dysferlinopathy[original query] |
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Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurology India 0 62 (6): 635-9. Xi Jianying, Blandin Gaelle, Lu Jiahong, Luo Sushan, Zhu Wenhua, Béroud Christophe, Pécheux Christophe, Labelle Véronique, Lévy Nicolas, Urtizberea Jon Andoni, Zhao Chongbo, Krahn Mart |
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. Muscle & nerve 2016 Jun . Jin Suqin, Du Jing, Wang Zhaoxia, Zhang Wei, Lv He, Meng Lingchao, Xiao Jiangxi, Yuan Y |
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. Neurology. Genetics 2015 Dec 1 (4): e36. Izumi Rumiko, Niihori Tetsuya, Takahashi Toshiaki, Suzuki Naoki, Tateyama Maki, Watanabe Chigusa, Sugie Kazuma, Nakanishi Hirotaka, Sobue Gen, Kato Masaaki, Warita Hitoshi, Aoki Yoko, Aoki Masas |
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. Neuropathology : official journal of the Japanese Society of Neuropathology 2018 5 . Tang Jin, Song Xueqin, Ji Guang, Wu Hongran, Sun Shuyan, Lu Shan, Li Yuan, Zhang Chi, Zhang Huiqi |
The correlation of clinical evaluation with life quality and mental status in a Chinese cohort with dysferlinopathy. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020 11 81 259-264. Feng Xuelin, Liu Changxia, Xi Jianying, Sun Chong, Yue Dongyue, Zhu Wenhua, Li Jing, Liang Zonghui, Lu Jiahong, Luo Sush |
Null variants in DYSF result in earlier symptom onset. Clinical genetics 2020 11 99 (3): 396-406. Park Hyung Jun, Hong Young Bin, Hong Ji-Man, Yun UnKyu, Kim Seung Woo, Shin Ha Young, Kim Seung Min, Choi Young-Ch |
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. Human mutation 2021 9 42 (12): 1615-1623. Zhong Huahua, Yu Meng, Lin Pengfei, Zhao Zhe, Zheng Xueying, Xi Jianying, Zhu Wenhua, Zheng Yiming, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Luo Sushan, Yuan Y |
[Analysis of genetic variants in five pedigrees affected with Dysferlinopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 3 38 (3): 205-209. Xia Yanjie, Shi Panlai, Hou Yaqin, Chen Duo, Dai Peng, Zhao Xinyu, Kong Xiangdo |
Dysferlinopathy in a cohort of Chinese patients: clinical features, mutation spectrum, and imaging findings. Chinese medical journal 2021 2 134 (5): 622-624. Guo Qi-Fu, Ye Zhi-Xian, Qiu Liang-Liang, Lin Xin, Lai Jia-He, Lin Min-Ting, Wang Zhi-Qiang, Wang Ning, Lin Fe |
Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses. Frontiers in neurology 2021 2 11 540098. Zhang Huili, Li Yaqin, Cheng Qiusheng, Chen Xi, Yu Qiuxia, Li |
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 2022 6 13 (6): . Cerino Mathieu, González-Hormazábal Patricio, Abaji Mario, Courrier Sebastien, Puppo Francesca, Mathieu Yves, Trangulao Alejandra, Earle Nicholas, Castiglioni Claudia, Díaz Jorge, Campero Mario, Hughes Ricardo, Vargas Carmen, Cortés Rocío, Kleinsteuber Karin, Acosta Ignacio, Urtizberea J Andoni, Lévy Nicolas, Bartoli Marc, Krahn Martin, Jara Lilian, Caviedes Pablo, Gorokhova Svetlana, Bevilacqua Jorge |
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India. Neurogenetics 2022 12 24 (1): 43-53. Nashi Saraswati, Polavarapu Kiran, Bardhan Mainak, Anjanappa Ram Murthy, Preethish-Kumar Veeramani, Vengalil Seena, Padmanabha Hansashree, Geetha Thenral S, Prathyusha P V, Ramprasad Vedam, Joshi Aditi, Chawla Tanushree, Unnikrishnan Gopikirshnan, Sharma Pooja, Huddar Akshata, Uppilli Bharathram, Thomas Abel, Baskar Dipti, Mathew Susi, Menon Deepak, Arunachal Gautham, Faruq Mohammed, Thangaraj Kumarasamy, Nalini Atchayar |
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- Page last updated:Apr 22, 2024
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