共 50 条
- [21] 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
- [22] 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
- [23] Spinal Muscular Atrophy-Lower Extremity Dominant (SMA-LED), with bilateral perisylvian polymicrogyria and infantile epileptic encephalopathy, due a novel DYNC1H1 mutationNEUROMUSCULAR DISORDERS, 2015, 25 : S222 - S223Singh, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandIllingworth, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandWhitney, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandKonn, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Neurophysiol, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandFoulds, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Neurogenet, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandAllen, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Neurophysiol, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, EnglandUglow, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Paediat Orthopaed, Southampton, Hants, England Univ Hosp Southampton NHS Trust, Paediat Neurol, Southampton, Hants, England
- [24] Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case seriesNEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 772 - 772Scoto, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandRossor, A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHarms, M. B.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, Neuromuscular Div, St Louis, MO 63110 USA UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandCalissano, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandCirak, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandFoley, A. R.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandSewry, C.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHafezparast, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton, E Sussex, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandRobb, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandManzur, A. Y.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandBaloh, R. H.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandReilly, M. M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
- [25] DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophyBRAIN, 2014, 137 : 1883 - 1893Garrett, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandBarri, Muruj论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandKuta, Anna论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandSoura, Violetta论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandDeng, Wenhan论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandFisher, Elizabeth M. C.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neurodegenerat Dis, London WC1N 3BG, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandSchiavo, Giampietro论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, EnglandHafezparast, 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 Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England
- [26] Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutationBMC Medical Genomics, 16Yazhao Mei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth People’s Hospital,Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone DiseasesYunyi Jiang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth People’s Hospital,Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone DiseasesZhenlin Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth People’s Hospital,Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone DiseasesHao Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Sixth People’s Hospital,Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases
- [27] Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutationBMC MEDICAL GENOMICS, 2023, 16 (01)Mei, Yazhao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R ChinaJiang, Yunyi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R ChinaZhang, Zhenlin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R ChinaZhang, Hao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 6, Shanghai Clin Res Ctr Bone Dis, Dept Osteoporosis & Bone Dis,Sch Med, Shanghai 200233, Peoples R China
- [28] Mutations in ASAH1 may cause spinal muscular atrophyNEUROMUSCULAR DISORDERS, 2015, 25 : S225 - S225Behin, A.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, France GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, FranceNelson, I.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, UMRS UPMC INSERM FRE CNRS AIM 974 3617, Paris, France GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, FranceBonne, G.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, UMRS UPMC INSERM FRE CNRS AIM 974 3617, Paris, France GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, FranceRomero, N.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, APHP, Lab Pathol Risler, Paris, France GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, FranceFroissart, R.论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Ctr Biol & Pathol Est Malad Hereditaires & Metab, Bron, France GH Pitie Salpetriere, APHP, Inst Myol, Reference Ctr Neuromuscular Disorders, F-75013 Paris, France
- [29] 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
- [30] 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