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- [11] De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodNATURE GENETICS, 2012, 44 (09) : 1030 - +Heinzen, Erin L.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Dept Med, Durham, NC 27706 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASwoboda, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pediat, Salt Lake City, UT USA Univ Utah, Dept Neurol, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHitomi, Yuki论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAGurrieri, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USANicole, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France INSERM, U975, Paris, France CNRS, UMR7225, Paris, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAde Vries, Boukje论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USATiziano, F. Danilo论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAFontaine, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Ctr Rech, Inst Cerveau & Moelle Epiniere, UMR S975, Paris, France INSERM, U975, Paris, France CNRS, UMR7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Neurol, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Ctr Reference Canalopathies Musculaires, F-75634 Paris, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAWalley, Nicole M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHeavin, Sinead论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Melbourne, Vic, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAPanagiotakaki, Eleni论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, Woman Mother Child Hosp, Epilepsy Sleep & Pediat Neurophysiol Dept, Lyon, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAFiori, Stefania论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAAbiusi, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USADi Pietro, Lorena论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASweney, Matthew T.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pediat, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USANewcomb, Tara M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pediat, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAViollet, Louis论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHuff, Chad论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Eccles Inst Human Genet, Dept Human Genet, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAJorde, Lynn B.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Eccles Inst Human Genet, Dept Human Genet, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAReyna, Sandra P.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAMurphy, Kelley J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Neurol, Salt Lake City, UT USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAShianna, Kevin V.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Dept Med, Durham, NC 27706 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAGumbs, Curtis E.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USALittle, Latasha论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASilver, Kenneth论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Neurol, Comer Childrens Hosp, Chicago, IL 60637 USA Univ Chicago, Dept Pediat, Comer Childrens Hosp, Chicago, IL 60637 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAPtacek, Louis J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Univ Calif San Francisco, Howard Hughes Med Inst, San Francisco, CA USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHaan, Joost论文数: 0 引用数: 0 h-index: 0机构: Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAFerrari, Michel D.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USABye, Ann M.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Paediat Neurol, Randwick, NSW, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHerkes, Geoffrey K.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Royal N Shore Hosp, Sydney, NSW 2006, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAWhitelaw, Charlotte M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Royal N Shore Hosp, Sydney, NSW 2006, Australia Univ Sydney, No Clin Sch, Sydney, NSW 2006, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAWebb, David论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dublin, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USALynch, Bryan J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dublin, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAUldall, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Rigshosp, Dept Paediat & Adolescent Med, DK-2100 Copenhagen, Denmark Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAKing, Mary D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dublin, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Melbourne, Vic, Australia Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Florey Neurosci Inst, Melbourne, Vic, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USANeri, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, Policlin A Gemelli, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAArzimanoglou, Alexis论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, Woman Mother Child Hosp, Epilepsy Sleep & Pediat Neurophysiol Dept, Lyon, France CNRS, INSERM, U1028, Lyon, France CNRS, UMR 5292, Lyon, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAvan den Maagdenberg, Arn M. J. M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASisodiya, Sanjay M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAMikati, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Div Pediat Neurol, Durham, NC USA Duke Univ, Dept Neurobiol, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Dept Mol Genet & Microbiol, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
- [12] De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodNature Genetics, 2012, 44 : 1030 - 1034Erin L Heinzen论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineKathryn J Swoboda论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineYuki Hitomi论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineFiorella Gurrieri论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineSophie Nicole论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineBoukje de Vries论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineF Danilo Tiziano论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineBertrand Fontaine论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineNicole M Walley论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineSinéad Heavin论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineEleni Panagiotakaki论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineStefania Fiori论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineEmanuela Abiusi论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineLorena Di Pietro论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineMatthew T Sweney论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineTara M Newcomb论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineLouis Viollet论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineChad Huff论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineLynn B Jorde论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineSandra P Reyna论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineKelley J Murphy论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineKevin V Shianna论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineCurtis E Gumbs论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineLatasha Little论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineKenneth Silver论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineLouis J Ptáček论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineJoost Haan论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineMichel D Ferrari论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineAnn M Bye论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineGeoffrey K Herkes论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineCharlotte M Whitelaw论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineDavid Webb论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineBryan J Lynch论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicinePeter Uldall论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineMary D King论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineIngrid E Scheffer论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineGiovanni Neri论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineAlexis Arzimanoglou论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineArn M J M van den Maagdenberg论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineSanjay M Sisodiya论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineMohamad A Mikati论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of MedicineDavid B Goldstein论文数: 0 引用数: 0 h-index: 0机构: Center for Human Genome Variation,Department of Medicine
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