共 50 条
- [1] Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 MutationsFRONTIERS IN NEUROLOGY, 2022, 13Li, Jia-Tong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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaDong, Si-Qi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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaZhu, Dong-Qing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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaYang, Wen-Bo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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaQian, Ting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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaLiu, Xiao-Ni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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R ChinaChen, Xiang-Jun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, Inst Neurol, Shanghai, Peoples R China Natl Ctr Neurol Disorders, Shanghai, Peoples R China Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai, Peoples R China
- [2] Phenotypic Spectrum of DYNC1H1 mutations in Brazilian PatientsNEUROLOGY, 2018, 90Cavalcanti, Eduardo Uchoa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sarah Brasilia, Neurol, Brasilia, DF, Brazil Hosp Sarah Brasilia, Neurol, Brasilia, DF, BrazilSantos, Savana Camilla论文数: 0 引用数: 0 h-index: 0机构: Hosp Sarah Brasilia, Lab Mol Biol, Brasilia, DF, Brazil Hosp Sarah Brasilia, Neurol, Brasilia, DF, BrazilFreitas, Denise论文数: 0 引用数: 0 h-index: 0机构: Hosp Sarah Brasilia, Neurol, Brasilia, DF, Brazil Hosp Sarah Brasilia, Neurol, Brasilia, DF, BrazilFreitas, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp Sarah Brasilia, Neurol, Brasilia, DF, Brazil Hosp Sarah Brasilia, Neurol, Brasilia, DF, BrazilNascimento, Osvaldo论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Fluminense, Neurol, Rio De Janeiro, Brazil Hosp Sarah Brasilia, Neurol, Brasilia, DF, Brazil
- [3] Two cases of DYNC1H1 mutations with intractable epilepsyBRAIN & DEVELOPMENT, 2021, 43 (08): : 857 - 862Matsumoto, Ayumi论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Ctr Mol Med, Dept Human Genet, Tochigi, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanKojima, Karin论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanMiya, Fuyuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Med Res Inst, Dept Med Sci Math, Tokyo, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanMiyauchi, Akihiko论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanWatanabe, Kazuhisa论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Ctr Mol Med, Dept Human Genet, Tochigi, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanIwamoto, Sadahiko论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Ctr Mol Med, Dept Human Genet, Tochigi, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanKawai, Kensuke论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Neurosurg, Tochigi, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Sch Med, Dept Pediat, Tokyo, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanTakahashi, Yukitoshi论文数: 0 引用数: 0 h-index: 0机构: NHO, Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, JapanYamagata, Takanori论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, Japan Jichi Med Univ, Dept Pediat, 3311-1 Yakushiji, Shimotsuke, Tochigi 3290498, Japan
- [4] Expanding the phenotypic spectrum associated with mutations of DYNC1H1NEUROMUSCULAR DISORDERS, 2017, 27 (07) : 607 - 615Beecroft, Sarah J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia Harry Perkins Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaMcLean, Catriona A.论文数: 0 引用数: 0 h-index: 0机构: Alfred Hlth, Victorian Neuromuscular Lab, Commercial Rd, Prahran, Vic 3181, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaDelatycki, Martin B.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Parkville, Vic 3052, Australia Victorian Clin Genet Serv, Parkville, Vic 3052, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaKoshy, Kurian论文数: 0 引用数: 0 h-index: 0机构: Launceston Gen Hosp, Launceston, Tas 7250, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaYiu, Eppie论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Bruce Lefroy Ctr, Parkville, Vic 3052, Australia Royal Childrens Hosp, Neurol Dept, Melbourne, Vic 3052, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaHaliloglu, Goknur论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Childrens Hosp, Dept Pediat Neurol, TR-06100 Ankara, Turkey Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaOrhan, Diclehan论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Childrens Hosp, Pediat Pathol Unit, TR-06100 Ankara, Turkey Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaLamont, Phillipa J.论文数: 0 引用数: 0 h-index: 0机构: Royal Perth Hosp, Dept Neurol, Neurogenet Unit, Perth, WA, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, Dept Diagnost Genom, Neurogenet Unit, PathWest, Nedlands, WA 6009, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia Harry Perkins Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia QEII Med Ctr, Dept Diagnost Genom, Neurogenet Unit, PathWest, Nedlands, WA 6009, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, AustraliaRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia Harry Perkins Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia Univ Western Australia, Neurogenet Dis Grp Ctr Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia
- [5] Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (03): : 195 - 205Laquerriere, Annie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceMaillard, Camille论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM UMR 1163, Embryol & Genet Congenital Malformat, Paris, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceCavallin, Mara论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM UMR 1163, Embryol & Genet Congenital Malformat, Paris, France Necker Enfants Malad Univ, Paris Hosp, AP HP, Pediat Neurol, Paris, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceChapon, Francoise论文数: 0 引用数: 0 h-index: 0机构: Caen Univ Hosp, Pathol Lab, Caen, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, France论文数: 引用数: h-index:机构:Molin, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceSigaudy, Sabine论文数: 0 引用数: 0 h-index: 0机构: Marseille Univ Hosp, Hop La Timone, AP HM, Clin Genet, Marseille, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceBlouet, Marie论文数: 0 引用数: 0 h-index: 0机构: Caen Univ Hosp, Dept Radiol, Caen, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceBenoist, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Caen Univ Hosp, Dept Obstet & Gynaecol, Caen, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceFernandez, Carla论文数: 0 引用数: 0 h-index: 0机构: Timone Univ Hosp, Dept Pathol & Neuropathol, Marseille, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FrancePoirier, Karine论文数: 0 引用数: 0 h-index: 0机构: Inst Cochin, INSERM, U1016, F-U1016 Paris, France CNRS, UMR8104, Paris, France Sorbonne Paris Cite Univ, Denis Diderot Sch Med, Paris, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceChelly, Jamel论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, CNRS UMR 7104, INSERM U964, IGBMC, Illkirch Graffenstaden, France Hop Univ Strasbourg, Pole Biol, Strasbourg, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceThomas, Sophie论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM UMR 1163, Embryol & Genet Congenital Malformat, Paris, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, FranceBahi-Buisson, Nadia论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France INSERM UMR 1163, Embryol & Genet Congenital Malformat, Paris, France Necker Enfants Malad Univ, Paris Hosp, AP HP, Pediat Neurol, Paris, France Normandie Univ, Rouen Univ Hosp, Normandy Ctr Genom & Personalized Med, Dept Pathol,NeoVasc Team,UNIROUEN,Inserm U1245, Rouen, France
- [6] Mutations in the Tail Domain of DYNC1H1 Cause Dominant Spinal Muscular AtrophyNEUROLOGY, 2012, 78论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ori-McKenney, Kassandra论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, New York, NY USA Washington Univ, St Louis, MO USAScoto, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: UC London, London, England Washington Univ, St Louis, MO USATuck, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USABell, Shaughn论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAMa, Duanduan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAMasi, Sophia论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAAllred, Peggy论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAAl-Lozi, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAReilly, Mary论文数: 0 引用数: 0 h-index: 0机构: UC London, London, England Washington Univ, St Louis, MO USAMiller, Lindsey论文数: 0 引用数: 0 h-index: 0机构: Wayne State, Detroit, MI USA Washington Univ, St Louis, MO USAJani-Acsadi, Agnes论文数: 0 引用数: 0 h-index: 0机构: Wayne State, Detroit, MI USA Washington Univ, St Louis, MO USAPestronk, Alan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis, MO USA Washington Univ, St Louis, MO USAShy, Michael论文数: 0 引用数: 0 h-index: 0机构: Wayne State, Detroit, MI USA Washington Univ, St Louis, MO USAMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UC London, London, England Washington Univ, St Louis, MO USAVallee, Richard论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, New York, NY USA Washington Univ, St Louis, MO USA
- [7] DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexesPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (09) : E1597 - E1606Hoang, Ha Thi论文数: 0 引用数: 0 h-index: 0机构: MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, England MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, EnglandSchlager, Max A.论文数: 0 引用数: 0 h-index: 0机构: MRC, Div Struct Studies, Mol Biol Lab, Cambridge CB2 0QH, England MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, EnglandCarter, Andrew P.论文数: 0 引用数: 0 h-index: 0机构: MRC, Div Struct Studies, Mol Biol Lab, Cambridge CB2 0QH, England MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, EnglandBullock, Simon L.论文数: 0 引用数: 0 h-index: 0机构: MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, England MRC, Div Cell Biol, Mol Biol Lab, Cambridge CB2 0QH, England
- [8] Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 MutationsPEDIATRIC NEUROLOGY, 2025, 163 : 7 - 11Gutierrez-Delicado, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainGarcia-Fernandez, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, Spain Univ Francisco Vitoria, Sch Med, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainCabrera, Nelmar Valentina Ortiz论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Clin Genet Unit, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainInsuga, Victor Soto论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Neurol Dept, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainRodriguez, Maria Justel论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Univ Salamanca, Neurol Dept, Salamanca, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainDuat-Rodriguez, Anna论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Neurol Dept, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainCaicoya, Anne G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Quironsalud, Epilepsy Unit, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainPrado, Juan Alvarez-Linera论文数: 0 引用数: 0 h-index: 0机构: Hosp Ruber Int, Diagnost Imaging Dept, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainMuniz, Ines Solis论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Diagnost Imaging Dept, Madrid, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, SpainPerez-Jimenez, Maria Angeles论文数: 0 引用数: 0 h-index: 0机构: Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Epilepsy Monitoring Unit, Avda Menendez Pelayo 65, Madrid 28009, Spain
- [9] Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defectsJOURNAL OF MEDICAL GENETICS, 2012, 49 (03) : 179 - 183Willemsen, Marjolein H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsVissers, Lisenka E. L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsWillemsen, Michel A. A. P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Neurol, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsvan Bon, Bregje W. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKroes, Thessa论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsde Ligt, Joep论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsde Vries, Bert B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsSchoots, Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsLugtenberg, Dorien论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHamel, Ben C. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlandsvan Bokhoven, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Nijmegen Ctr Mol Life Sci, Inst Genet & Metab Dis, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
- [10] Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1MOLECULAR AND CELLULAR PROBES, 2017, 34 : 21 - 29Sucularli, Ceren论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Inst Hlth Sci, Dept Bioinformat, TR-06100 Ankara, Turkey Hacettepe Univ, Inst Hlth Sci, Dept Bioinformat, TR-06100 Ankara, TurkeyArslantas, Melda论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Inst Hlth Sci, Dept Bioinformat, TR-06100 Ankara, Turkey Hacettepe Univ, Inst Hlth Sci, Dept Bioinformat, TR-06100 Ankara, Turkey