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- [1] Genotype-phenotype correlation analysis in GNE myopathyNEUROMUSCULAR DISORDERS, 2017, 27 : S149 - S149Pogoryelova, O.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandCammish, P.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandMansbach, H.论文数: 0 引用数: 0 h-index: 0机构: Ultragenyx Pharmaceut Inc, Calafornia, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmueller, H.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England
- [2] Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in ChinaJOURNAL OF MEDICAL GENETICS, 2024, 61 (11) : 1053 - 1061Jiao, Kexin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhang, Jialong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLi, Qiuxiang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLv, Xiaoqing论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Neurol, Jinan, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan, Shandong, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaYu, Yanyan论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Jiangxi, Peoples R China Nanchang Univ, Affiliated Hosp 1, Dept Med Genet, Nanchang, Jiangxi, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhu, Bochen论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhong, Huahua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaYu, Xu'en论文数: 0 引用数: 0 h-index: 0机构: Anhui Univ Chinese Med, Inst Neurol, Dept Neurol, Affiliated Hosp, Hefei, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaSong, Jia论文数: 0 引用数: 0 h-index: 0机构: Henan Prov Peoples Hosp, Dept Neurol, Zhengzhou, Henan, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaKe, Qing论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Dept Neurol, Sch Med, Hangzhou, Zhejiang, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaQian, Fangyuan论文数: 0 引用数: 0 h-index: 0机构: Southeast Univ, Dept Neurol, Zhongda Hosp, Nanjing, Jiangsu, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLuan, Xinghua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth Peoples Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhang, Xiaojie论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth Peoples Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaChang, Xueli论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Hosp 1, Dept Neurol, Taiyuan, Shanxi, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaWang, Liang论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Guangdong, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLiu, Meirong论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Dept Neurol, Suzhou, Jiangsu, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaDong, Jihong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZou, Zhangyu论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ Union Hosp, Dept Neurol, Fuzhou, Fujian, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaBu, Bitao论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Neurol, Wuhan, Hubei, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaJiang, Haishan论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Nanfang Hosp, Dept Neurol, Guangzhou, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLiu, LingChun论文数: 0 引用数: 0 h-index: 0机构: First Peoples Hosp Yunnan, Dept Neurol, Kunming, Yunnan, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLi, Yue论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Tongji Med Coll, Tongji Hosp, Dept Neurol, Wuhan, Hubei, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaYue, Dongyue论文数: 0 引用数: 0 h-index: 0机构: Jingan Dist Ctr Hosp Shanghai, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaChang, Xuechun论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Sch Med, Dept Integrat Biol & Physiol, Minneapolis, MN USA Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZheng, Yongsheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaWang, Ningning论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaGao, Mingshi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Pathol, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaXia, Xingyu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaCheng, Nachuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaWang, Tao论文数: 0 引用数: 0 h-index: 0机构: Zhongshan Hosp, Dept Anesthesiol, Shanghai, Peoples R China Fudan Univ, Inst Translat Brain Res, State Key Lab Med Neurobiol, MOE,Frontiers Ctr Brain Sci, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLuo, Su-Shan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaXi, Jianying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLin, Jie论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLu, Jiahong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhao, Chongbo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaYang, Huan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaLin, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Neurol, Jinan, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan, Shandong, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaHong, Daojun论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Jiangxi, Peoples R China Nanchang Univ, Affiliated Hosp 1, Dept Med Genet, Nanchang, Jiangxi, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhao, Zhe论文数: 0 引用数: 0 h-index: 0机构: Hebei Med Univ, Affiliated Hosp 3, Dept Neuromuscular Dis, Shijiazhuang, Hebei, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaWang, Zhiqiang论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Xiamen, Fujian, Peoples R China Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Xiamen, Fujian, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R ChinaZhu, Wenhua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China Fudan Univ, Dept Neurol, Huashan Hosp, Shanghai, Peoples R China
- [3] Novel mutations and genotype-phenotype correlation in a multicenter cohort of GNE myopathy in ChinaNEUROMUSCULAR DISORDERS, 2024, 43Jiao, K.论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Rare Dis Ctr, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaZhang, J.论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Rare Dis Ctr, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaLi, Q.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Changsha, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaLv, X.论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Qilu Hosp, Dept Neurol, Jinan, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan, Shandong, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaHong, D.论文数: 0 引用数: 0 h-index: 0机构: Nanchang Univ, Affiliated Hosp 1, Dtment Neurol, Nanchang, Jiangxi, Peoples R China Nanchang Univ, Affiliated Hosp 1, Dept Med Genet, Nanchang, Jiangxi, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaZhao, Z.论文数: 0 引用数: 0 h-index: 0机构: Hebei Med Univ, Hosp 3, Dept Neuromuscular Dis, Shijiazhuang, Hebei, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaWang, Z.论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Affiliated Hosp 1, Fuzhou, Fujian, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaZhu, W.论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Rare Dis Ctr, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China
- [4] Genotype-phenotype correlation in Bethlem myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 720 - 721Pepe, G论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyLucioli, S论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyVanegas, OC论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMinosse, C论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyGiusti, B论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyUrtizberea, JA论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBushby, K论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, Italyde Visser, M论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBönnemann, C论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalySabatelli, P论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyBertini, E论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyMerlini, L论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, ItalyChu, ML论文数: 0 引用数: 0 h-index: 0机构: Univ Rome, Rome, Italy Univ Rome, Rome, Italy
- [5] Genotype-phenotype correlation in nemaline myopathy.AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 638 - 638Ryan, MM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USASchnell, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USAStrickland, CD论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USAShield, LK论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USAMorgan, G论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USAIannaccone, ST论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USALaing, NG论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USANorth, KN论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USABeggs, AH论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Boston, MA 02115 USA
- [6] GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian CohortJOURNAL OF NEUROMUSCULAR DISEASES, 2024, 11 (05) : 959 - 968Baskar, Dipti论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaReddy, Nishanth论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaPreethish-Kumar, Veeramani论文数: 0 引用数: 0 h-index: 0机构: Morriston Hosp, SBUHB, Swansea, Wales Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India论文数: 引用数: h-index:机构:Nishadham, Vikas论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaVengalil, Seena论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaNashi, Saraswati论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaSanka, Sai Bhargava论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaBardhan, Mainak论文数: 0 引用数: 0 h-index: 0机构: Indian Council Med Res ICMR, Natl Inst Cholera & Enter Dis NICED, New Delhi, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaHuddar, Akshata论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaUnnikrishnan, Gopikrishnan论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaHarikrishna, Ganaraja Valakunja论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaGunasekaran, Swetha论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaThomas, Priya Treesa论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Psychiat Social Work, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaSuhasini, Muddasu论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaGirija, Manu Santhappan论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaArunachalf, Gautham论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Human Genet, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaAnjanappag, Ram Murthy论文数: 0 引用数: 0 h-index: 0机构: Medgenome Lab, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaNishino, Ichizo论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat NCNP, Natl Inst Neuorosci, Dept Neuromuscular Res, Tokyo, Japan Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaPogoryelova, Oksana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Newcastle Upon Tyne, England Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaLochmulle, Hanns论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON, Canada Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Univ Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat, Ctr Nacl Anal Genomico CNAG CRG, Barcelona, Spain Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, IndiaNalini, Atchayaram论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Neurol, Bengaluru, India
- [7] DMRV and GNE mutations: genotype-phenotype correlation in 100 Japanese patientsNEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 619 - 619Tomimitsu, H.论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Tokyo, Japan Tokyo Med & Dent Univ, Tokyo, JapanArai, A.论文数: 0 引用数: 0 h-index: 0机构: Niigata Univ, Niigata, Japan Tokyo Med & Dent Univ, Tokyo, JapanMurayama, K.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Kodaira, Tokyo 187, Japan Tokyo Med & Dent Univ, Tokyo, JapanShimizu, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Tokyo, Japan Tokyo Med & Dent Univ, Tokyo, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Aoki, M.论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Sendai, Miyagi 980, Japan Tokyo Med & Dent Univ, Tokyo, JapanMizusawa, H.论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Tokyo, Japan Tokyo Med & Dent Univ, Tokyo, JapanTanaka, K.论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Kanazawa, Ishikawa, Japan Tokyo Med & Dent Univ, Tokyo, Japan论文数: 引用数: h-index:机构:
- [8] Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portionNEUROMUSCULAR DISORDERS, 2018, 28 (02) : 158 - 168Pogoryelova, Oksana论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandCammish, Phillip论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandMansbach, Hank论文数: 0 引用数: 0 h-index: 0机构: Ultragenyx Pharmaceut Inc, Novato, CA USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandArgov, Zohar论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Dept Neurol, Jerusalem, Israel Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England论文数: 引用数: h-index:机构:Skrinar, Alison论文数: 0 引用数: 0 h-index: 0机构: Ultragenyx Pharmaceut Inc, Novato, CA USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandChan, Yiumo论文数: 0 引用数: 0 h-index: 0机构: Ultragenyx Pharmaceut Inc, Novato, CA USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandNafissi, Shahriar论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Dept Neurol, Tehran, Iran Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandShamshiri, Hosein论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Dept Neurol, Tehran, Iran Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandKakkis, Emil论文数: 0 引用数: 0 h-index: 0机构: Ultragenyx Pharmaceut Inc, Novato, CA USA Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, EnglandLochmuller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- [9] Genotype-phenotype correlation in recessive DNAJB4 myopathyACTA NEUROPATHOLOGICA COMMUNICATIONS, 2024, 12 (01):Inoue, Michio论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAJayaraman, Divya论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Massachusetts Gen Hosp, Dept Neurol, Div Neuromuscular Med, Boston, MA USA Brigham & Womens Hosp, Boston, MA USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USABengoechea, Rocio论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USABhadra, Ankan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MI USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAGenetti, Casie A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA论文数: 引用数: h-index:机构:Turan, Betuel论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Dept Internal Med, Riyadh, Saudi Arabia Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAPacheco-Orozco, Rafael Adrian论文数: 0 引用数: 0 h-index: 0机构: Org Clin Gen Norte, Barranquilla, Colombia Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA论文数: 引用数: h-index:机构:Al Hashmi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Natl Genet Ctr, Minist Hlth, Muscat, Oman Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAZamani, Ayse Guel论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Dept Internal Med, Riyadh, Saudi Arabia Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAGoktas, Emine论文数: 0 引用数: 0 h-index: 0机构: Necmettin Erbakan Univ Meram, Fac Med, Dept Med Genet, Konya, Turkiye Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAPekcan, Sevgi论文数: 0 引用数: 0 h-index: 0机构: Necmettin Erbakan Univ, Meram Fac Med, Dept Pediat Pulmonol, Konya, Turkiye Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USACaglar, Hanife Tugce论文数: 0 引用数: 0 h-index: 0机构: Necmettin Erbakan Univ, Meram Fac Med, Dept Pediat Pulmonol, Konya, Turkiye Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USATrue, Heather论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MI USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USABeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USAWeihl, Conrad C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA Washington Univ, Dept Neurol, Sch Med, 4523 Clayton Ave,Box 8111, St Louis, MO 63110 USA
- [10] Genotype-phenotype correlations in nemaline myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 757 - 757Wallgren-Petterson, C论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandNowak, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandNorth, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandBeggs, A论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, FinlandLaing, N论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, Finland