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- [41] Epilepsy Phenotype In Patients With Rare De Novo DYNC1H1 VariantsEPILEPSIA, 2019, 60 : 170 - 171论文数: 引用数: h-index:机构:Bak, M.论文数: 0 引用数: 0 h-index: 0机构: Rigshosp Copenaghen, Copenaghen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBarca, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Farm Carol Davila Bucuresti, Bucharest, Romania Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyIliescu, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Farm Carol Davila Bucuresti, Bucharest, Romania Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyFung, F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyHelbig, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyOrtiz-Gonzalez, X.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySchelhaas, J.论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Amsterdam, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Amsterdam, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyVerhoeven, J.论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Amsterdam, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyCanafoglia, L.论文数: 0 引用数: 0 h-index: 0机构: Ist Neurol C Besta, Milan, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyLehesjoki, A. -E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, Finland Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyAlegre, P. -G.论文数: 0 引用数: 0 h-index: 0机构: Penn Hosp, Philadelphia, PA 19107 USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBardakjian, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Philadelphia, PA 19104 USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySyrbe, S.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Heidelberg, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySchuler, E.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Heidelberg, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyLemke, J.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Heidelberg, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyRoende, G.论文数: 0 引用数: 0 h-index: 0机构: Rigshosp Copenaghen, Copenaghen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyPowis, Z.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Kalamazoo, MI USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyHuq, M.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Kalamazoo, MI USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyMoeller, R.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Copenaghen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyJohannesen-Lemke, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Leipzig, Germany Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyRabin, R.论文数: 0 引用数: 0 h-index: 0机构: NYU, New York, NY USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyZadeh, N.论文数: 0 引用数: 0 h-index: 0机构: CHOC Childrens, Orange, CA USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, Italy论文数: 引用数: h-index:机构:Hudson, C.论文数: 0 引用数: 0 h-index: 0机构: Shodair Childrens Hosp, Helena, MT USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyVari, M. S.论文数: 0 引用数: 0 h-index: 0机构: Gaslini Inst, Genoa, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyBilo, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Naples, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyHammer, T.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Copenaghen, Denmark Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyPappas, J.论文数: 0 引用数: 0 h-index: 0机构: NYU, New York, NY USA Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyVeroheven, J.论文数: 0 引用数: 0 h-index: 0机构: Kempenhaeghe, Heeze, Netherlands Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyUgga, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Naples, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, Italy论文数: 引用数: h-index:机构:Helbig, I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, U Arab Emirates Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyZagaglia, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyCourage, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Helsinki, Finland Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalySisodiya, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyZara, F.论文数: 0 引用数: 0 h-index: 0机构: Gaslini Inst, Genoa, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, ItalyStriano, P.论文数: 0 引用数: 0 h-index: 0机构: Gaslini Inst, Genoa, Italy Univ Naples Federico II, Dept Neurosci Odontostomatol & Reprod Sci, Naples, Italy
- [42] Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant Charcot-Marie-Tooth diseaseJOURNAL OF MEDICAL GENETICS, 2011, 48 : S17 - S17Ellard, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandWeedon, M. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandCaswell, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandHastings, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, St Michaels Hosp, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandXie, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandPaszkiewicz, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Coll Life & Environm Sci, Exeter Sequencing Serv, Exeter EX4 4QJ, Devon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandAntoniadi, T.论文数: 0 引用数: 0 h-index: 0机构: Southmead Hosp, Bristol Genet Lab, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandWilliams, M.论文数: 0 引用数: 0 h-index: 0机构: Southmead Hosp, Bristol Genet Lab, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandKing, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, St Michaels Hosp, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandGreenhalgh, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, St Michaels Hosp, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, EnglandNewbury-Ecob, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, St Michaels Hosp, Bristol, Avon, England Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter EX4 4QJ, Devon, England
- [43] Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 965 - 973Oates, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaRossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHafezparast, Majid论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGonzalez, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSpeziani, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaLek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaCottenie, Ellen论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaScoto, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHurles, Matthew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL Inst Neurol, Neurogenet Lab, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGreensmith, Linda论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Div Orthopaed, A-1090 Vienna, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaPieber, Thomas R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Div Endocrinol & Metab, Dept Internal Med, A-8036 Graz, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-85748 Garching, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurodegenerat Dis, D-72074 Tubingen, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHerrmann, David N.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSowden, Janet E.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAcsadi, Gyula论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Hartford, CT 06106 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMenezes, Manoj P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaZuechner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
- [44] De Novo Variants in the DYNC1H1 Gene Associated With Infantile SpasmsFRONTIERS IN NEUROLOGY, 2021, 12Yang, Haipo论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaGong, Pan论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaJiao, Xianru论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaNiu, Yue论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaZhou, Qiujun论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaZhang, Yuehua论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaYang, Zhixian论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China
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