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- [32] A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):Grosz, Bianca R.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaTisch, Stephen论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Dept Neurol, Darlinghurst, NSW, Australia Univ New South Wales, Sch Med, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaTchan, Michel C.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Clin Genom, Darlinghurst, NSW, Australia Westmead Hosp, Dept Genet Med, Westmead, NSW, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaFung, Victor S. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia Westmead Hosp, Neurol Dept, Movement Disorders Unit, Westmead, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaDarveniza, Paul论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Dept Neurol, Darlinghurst, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaFellner, Avi论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, Petah Tiqwa, Israel Beilinson Med Ctr, Rabin Med Ctr, Dept Neurol, Petah Tiqwa, Israel ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: Zayed Ctr Res Rare Dis Children, Dev Neurosci, London, England ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaMcLean, Alison论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Clin Genom, Darlinghurst, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaTomlinson, Susan E.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Dept Neurol, Darlinghurst, NSW, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaSmyth, Renee论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Clin Genom, Darlinghurst, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaDevery, Sophie论文数: 0 引用数: 0 h-index: 0机构: St Vincents Hosp, Clin Genom, Darlinghurst, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaWu, Kathy H. C.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Med, Sydney, NSW, Australia St Vincents Hosp, Clin Genom, Darlinghurst, NSW, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia Univ Notre Dame, Sch Med, Fremantle, WA, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaKennerson, Marina L.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia Concord Repatriat Gen Hosp, Mol Med Lab, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, AustraliaKumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia Concord Repatriat Gen Hosp, Mol Med Lab, Concord, NSW, Australia Concord Repatriat Gen Hosp, Dept Neurol, Concord, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Concord, NSW, Australia
- [33] Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor abilityMOVEMENT DISORDERS, 2017, 32Kawarai, T.论文数: 0 引用数: 0 h-index: 0Miyamoto, R.论文数: 0 引用数: 0 h-index: 0Mure, H.论文数: 0 引用数: 0 h-index: 0Morigaki, R.论文数: 0 引用数: 0 h-index: 0Oki, R.论文数: 0 引用数: 0 h-index: 0Orlacchio, A.论文数: 0 引用数: 0 h-index: 0Koichihara, R.论文数: 0 引用数: 0 h-index: 0Nakagawa, E.论文数: 0 引用数: 0 h-index: 0Sakamoto, T.论文数: 0 引用数: 0 h-index: 0Izumi, Y.论文数: 0 引用数: 0 h-index: 0Goto, S.论文数: 0 引用数: 0 h-index: 0Kaji, R.论文数: 0 引用数: 0 h-index: 0
- [34] Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variantsPARKINSONISM & RELATED DISORDERS, 2020, 77 : 76 - 82Li, Xin-yao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaDai, Li-fang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaWan, Xin-hua论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaGuo, Yi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurosurg, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaDai, Yi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaLi, Shang-lin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaFang, Fang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaWang, Xiao-hui论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaZhang, Wei-hua论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaLiu, Ting-hong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Funct Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaXie, Zi-hang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Funct Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaFang, Tie论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Funct Neurosurg, Beijing, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaWang, Lin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R ChinaDing, Chang-hong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Natl Ctr Childrens Hlth, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Neurol, Beijing 100730, Peoples R China
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ItalyTravaglini, Lorena论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, Italy IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, ItalyPizzi, Simone论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, Italy IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, ItalyAndreani, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Dept Pediat Oncohematol & Cell & Gene Therapy, Rome, Italy IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMiele, Evelina论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Osped Pediat Bambino Gesu, Dept Pediat Oncohematol & Cell & Gene Therapy, Rome, Italy IRCCS, Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, ItalyInvernizzi, Federica论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Neurol C Besta, Med Genet & Neurogenet Unit, Milan, Italy IRCCS, Osped Pediat Bambino Gesu, Genet & 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