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- [1] Clinical and Genetic spectrum of GNE myopathy from IndiaNEUROMUSCULAR DISORDERS, 2023, 33 : S138 - S138Yamuna, V. Venugopalan Thampy论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaMacken, W.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci, New Delhi, IndiaMishra, R.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaReyaz, A.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaAhmed, T.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaBhatia, R.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaPitceathly, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci, New Delhi, IndiaThangaraj, K.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cellular & Mol Biol, Hyderabad, Telangana, India Ctr DNA Fingerprinting & Diagnost, Hyderabad, Telangana, India All India Inst Med Sci, New Delhi, IndiaSrivastava, P.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, New Delhi, India All India Inst Med Sci, New Delhi, IndiaHanna, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci, New Delhi, India
- [2] Genetic and Clinical Spectrum of GNE Myopathy in RussiaGENES, 2022, 13 (11)Murtazina, Aysylu论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaNikitin, Sergey论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaRudenskaya, Galina论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaSharkova, Inna论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaBorovikov, Artem论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaSparber, Peter论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaShchagina, Olga论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaChukhrova, Alena论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaRyzhkova, Oksana论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaShatokhina, Olga论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaOrlova, Anna论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaUdalova, Vasilisa论文数: 0 引用数: 0 h-index: 0机构: Lab Genomed LTD, Moscow 107014, Russia Res Ctr Med Genet, Moscow 115478, RussiaKanivets, Ilya论文数: 0 引用数: 0 h-index: 0机构: Lab Genomed LTD, Moscow 107014, Russia Minist Healthcare Russian Federat, Fed State Budgetary Educ Inst Further Profess Edu, Russian Med Acad Continuous Profess Educ, Moscow 125993, Russia Res Ctr Med Genet, Moscow 115478, RussiaKorostelev, Sergey论文数: 0 引用数: 0 h-index: 0机构: Lab Genomed LTD, Moscow 107014, Russia Res Ctr Med Genet, Moscow 115478, RussiaPolyakov, Alexander论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaDadali, Elena论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, RussiaKutsev, Sergey论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow 115478, Russia Res Ctr Med Genet, Moscow 115478, Russia
- [3] Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centreJOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2021, 25 (22) : 10494 - 10503Zhang, Kai-Yue论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Sch Med, Clin Med Program Year 8, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaDuan, Hui-Qian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaLi, Qiu-Xiang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaLuo, Yue-Bei论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaBi, Fang-Fang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaHuang, Kun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Inst Mol Precis Med, Xiangya Hosp, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Hunan Key Lab Mol Precis Med, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R ChinaYang, Huan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Xiangya Rd, Changsha 410008, Peoples R China
- [4] ADSSL1 myopathy in a neuromuscular cohort in Northern IndiaNEUROMUSCULAR DISORDERS, 2024, 43Reyaz, A.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaMacken, W.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci AIIMS, New Delhi, IndiaRani, N.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaAhmad, T.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaTarane, K.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaDanish, M.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaBhatia, R.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaPitceathly, R.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci AIIMS, New Delhi, IndiaThangaraj, K.论文数: 0 引用数: 0 h-index: 0机构: Ctr DNA Fingerprinting & Diagnost, Hyderabad, India Ctr Cellular & Mol Biol, Hyderabad, India All India Inst Med Sci AIIMS, New Delhi, IndiaTopf, A.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 Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England All India Inst Med Sci AIIMS, New Delhi, IndiaStraub, V.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 Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England All India Inst Med Sci AIIMS, New Delhi, IndiaSrivastava, P.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, IndiaHanna, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, NHS Highly Specialised Serv Rare Mitochondrial Di, London, England All India Inst Med Sci AIIMS, New Delhi, IndiaVenugopalan, Y. V.论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci AIIMS, New Delhi, India All India Inst Med Sci AIIMS, New Delhi, India
- [5] GNE myopathy in IndiaNEUROLOGY INDIA, 2013, 61 (04) : 371 - 374Nalini, Atchayaram论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, IndiaGayathri, Narayanappa论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Bangalore 560029, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, IndiaNishino, Ischizo论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Clin Dev, Translat Med Ctr, Tokyo, Japan Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, IndiaHayashi, Yukiko K.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Clin Dev, Translat Med Ctr, Tokyo, Japan Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bangalore 560029, Karnataka, India
- [6] Mutational spectrum and clinical features of GNE myopathy in RussiaEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 511 - 511Murtazina, Aysylu论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaNikitin, Sergey论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaRudenskaya, Galina论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaSharkova, Inna论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaShchagina, Olga论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaChukhrova, Alena论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaRyzhkova, Oksana论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaShatokhina, Olga论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaOrlova, Anna论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaBorovikov, Artem论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaKanivets, Ilya论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia FSBEI FPE RMACPE MOH, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaKorostelev, Sergey论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaDadali, Elena论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, Russia
- [7] Clinical, genetic, and pathological characterization of GNE myopathy in ChinaNEUROLOGICAL SCIENCES, 2022, 43 (07) : 4483 - 4491Lv, Xiao-Qing论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Cheeloo Coll Med, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan 250012, Shandong, Peoples R China Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R ChinaXu, Ling论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Cheeloo Coll Med, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan 250012, Shandong, Peoples R China Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R ChinaLin, Peng-Fei论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan 250012, Shandong, Peoples R China Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R ChinaYan, Chuan-Zhu论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R China Shandong Univ, Qilu Hosp, Res Inst Neuromuscular & Neurodegenerat Dis, Jinan 250012, Shandong, Peoples R China Shandong Univ, Dept Neurol, Jinan 250012, Shandong, Peoples R China
- [8] Clinical, genetic, and pathological characterization of GNE myopathy in ChinaNeurological Sciences, 2022, 43 : 4483 - 4491Xiao-Qing Lv论文数: 0 引用数: 0 h-index: 0机构: Shandong University,Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of MedicineLing Xu论文数: 0 引用数: 0 h-index: 0机构: Shandong University,Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of MedicinePeng-Fei Lin论文数: 0 引用数: 0 h-index: 0机构: Shandong University,Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of MedicineChuan-Zhu Yan论文数: 0 引用数: 0 h-index: 0机构: Shandong University,Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital, Cheeloo College of Medicine
- [9] Clinical and genetic profiles of GNE myopathy in Korean patientsNEUROMUSCULAR DISORDERS, 2018, 28 : S106 - S106Shin, J.论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Yangsan, South Korea Pusan Natl Univ, Yangsan, South KoreaPark, Y.论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Busan, South Korea Pusan Natl Univ, Yangsan, South Korea论文数: 引用数: h-index:机构:Kim, D.论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Yangsan, South Korea Pusan Natl Univ, Yangsan, South Korea
- [10] Distal myopathy due to mutations of GNE gene:: Clinical spectrum and diagnosisREVUE NEUROLOGIQUE, 2008, 164 (05) : 434 - 443Behin, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FranceDubourg, O.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FranceLaforet, P.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FrancePecheux, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Dept Med Genet, Marseille, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FranceBernard, R.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Dept Med Genet, Marseille, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FranceLevy, N.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants La Timone, Dept Med Genet, Marseille, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Malad Rares Neuromusculaires, Inst Myol, F-75634 Paris, France