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NATURE 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
- [4] ATP1A3variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2021, 63 (01) : 111 - 115Sasaki, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanSumitomo, Noriko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanShimizu-Motohashi, Yuko论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanTakeshita, Eri论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanKurosawa, Kenji论文数: 0 引用数: 0 h-index: 0机构: Kanagawa Childrens Med Ctr, Div Genet, Yokohama, Kanagawa, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanIwama, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanMizuguchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo, Japan
- [5] Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes[J]. GENETICS IN MEDICINE, 2019, 21 (01) : 195 - 206Sun, Miao论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAJohnson, Amy Knight论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USANelakuditi, Viswateja论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAGuidugli, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAFischer, David论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAArndt, Kelly论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAMa, Lan论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASandford, Erin论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Mol & Behav Neurosci Inst, Ann Arbor, MI 48109 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAShakkottai, Vikram论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Neurol Mol & Integrat Physiol, Ann Arbor, MI 48109 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USABoycott, Kym论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAChardon, Jodi Warman论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Ottawa Hosp, OHRI, Ottawa, ON, Canada Univ Chicago, Dept Human Genet, Chicago, IL 60637 USALi, Zejuan论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAdel Gaudio, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USABurmeister, Margit论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Mol & Behav Neurosci Inst, Ann Arbor, MI 48109 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAGomez, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Neurol, 5841 S Maryland Ave, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAWaggoner, Darrel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USADas, Soma论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
- [6] The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond[J]. PEDIATRIC NEUROLOGY, 2015, 52 (01) : 56 - 64Sweney, Matthew T.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USANewcomb, Tara M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USASwoboda, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Sch Med, Pediat Motor Disorders Res Program, Dept Neurol, Salt Lake City, UT 84132 USA Univ Utah, Sch Med, Dept Pediat, Dept Neurol, Salt Lake City, UT 84132 USA