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- [21] A NOVEL ATP1A3 VARIANT ASSOCIATED WITH DYSMORPHIC FACIAL FEATURES AND OVERLAPPING PHENOTYPES OF ATP1A3-RELATED DISORDERSAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 723 - 723Haldeman-Englert, C.论文数: 0 引用数: 0 h-index: 0机构: Fullerton Genet Ctr, Asheville, NC USA Fullerton Genet Ctr, Asheville, NC USACrandall, K.论文数: 0 引用数: 0 h-index: 0机构: Fullerton Genet Ctr, Asheville, NC USA Fullerton Genet Ctr, Asheville, NC USASchott, S.论文数: 0 引用数: 0 h-index: 0机构: Fullerton Genet Ctr, Asheville, NC USA Fullerton Genet Ctr, Asheville, NC USASpellicy, C.论文数: 0 引用数: 0 h-index: 0机构: Fullerton Genet Ctr, Asheville, NC USA Fullerton Genet Ctr, Asheville, NC USABasehore, M.论文数: 0 引用数: 0 h-index: 0机构: Fullerton Genet Ctr, Asheville, NC USA Fullerton Genet Ctr, Asheville, NC USA
- [22] ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese PatientsPLOS ONE, 2014, 9 (05):Yang, Xiaoling论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaGao, Hua论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch Life Sci, State Key Lab Prot & Plant Gene Res, Ctr Bioinformat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaZhang, Jie论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Biol Sci, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaXu, Xiaojing论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaLiu, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaWu, Xiru论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaWei, Liping论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Sch Life Sci, State Key Lab Prot & Plant Gene Res, Ctr Bioinformat, Beijing 100871, Peoples R China Natl Inst Biol Sci, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R ChinaZhang, Yuehua论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
- [23] Mutations of ATP1A3 in residue 756 cause a new phenotype, case report and literature reviewEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 308 - 309Biela, Mateusz论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandRydzanicz, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Warsaw Med Univ, Warsaw, Poland Wroclaw Med Univ, Wroclaw, PolandSzymanska, Krystyna论文数: 0 引用数: 0 h-index: 0机构: Polish Acad Sci, Mossakowski Med Res Ctr, Warsaw, Poland Wroclaw Med Univ, Wroclaw, PolandPieniawska-Smiech, Karolina论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandLewandowicz-Uszynska, Aleksandra论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandChruszcz, Joanna论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandSzenborn, Leszek论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandJakubiak, Aleksandra论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, PolandPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Warsaw Med Univ, Warsaw, Poland Wroclaw Med Univ, Wroclaw, PolandSmigiel, Robert论文数: 0 引用数: 0 h-index: 0机构: Wroclaw Med Univ, Wroclaw, Poland Wroclaw Med Univ, Wroclaw, Poland
- [24] Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI ManagementFRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9Wang, Wenjia论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaLi, Jin论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaLan, Lan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaXie, Linyi论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaXiong, Fen论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaGuan, Jing论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaWang, Hongyang论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R ChinaWang, Qiuju论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Inst Otalaryngol, Beijing, Peoples R China
- [25] Untangling the complicated web of ATP1A3 mutationsPARKINSONISM & RELATED DISORDERS, 2020, 78 : 186 - 188Salles, Philippe论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Neurol Inst, Ctr Neurol Restorat, Dept Neurol, Cleveland, OH 44106 USA CETRAM, Ctr Trastornos Movimiento, Santiago, Chile Cleveland Clin, Neurol Inst, Ctr Neurol Restorat, Dept Neurol, Cleveland, OH 44106 USAFernandez, Hubert H.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Neurol Inst, Ctr Neurol Restorat, Dept Neurol, Cleveland, OH 44106 USA Cleveland Clin, Neurol Inst, Ctr Neurol Restorat, Dept Neurol, Cleveland, OH 44106 USA
- [26] Distinct neurological disorders with ATP1A3 mutationsLANCET NEUROLOGY, 2014, 13 (05): : 503 - 514Heinzen, 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 27008 USA Duke Univ, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27008 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAArzimanoglou, Alexis论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon, HFME, Epilepsy Sleep & Pediat Neurophysiol Dept, Lyon, France Ctr Rech Neurosci Lyon, CNRS, UMR 5292, INSERM U1028, Lyon, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USABrashear, Allison论文数: 0 引用数: 0 h-index: 0机构: Wake Forest Sch Med, Dept Neurol, Winston Salem, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAClapcote, Steven J.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Sch Biomed Sci, Leeds, W Yorkshire, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAGurrieri, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica S Cuore, Ist Genet Med, Rome, Italy Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 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 27008 USA Duke Univ, Sch Med, Dept Mol Genet & Microbiol, Durham, NC 27008 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAJohannesson, Sigurdur H.论文数: 0 引用数: 0 h-index: 0机构: AHC Federat Europe, Reykjavik, Iceland AHC Assoc Iceland, Reykjavik, Iceland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAMikati, Mohamad A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Div Pediat Neurol, Durham, NC 27008 USA Duke Univ, Sch Med, Dept Neurobiol, Durham, NC 27008 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USANeville, Brian论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USANicole, Sophie论文数: 0 引用数: 0 h-index: 0机构: Inst Cerveau & Moelle, Ctr Rech, INSERM, U975, Paris, France CNRS, UMR7225, Paris, France Univ Paris 06, UMRS975, Paris, France Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAOzelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAPoulsen, Hanne论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Dept Mol Biol & Genet, Danish Res Inst Translat Neurosci, Nord EMBL Partnership Mol Med, Aarhus, Denmark Danish Natl Res Fdn, Ctr Membrane Pumps Cells & Dis PUMPKIN, Aarhus, Denmark Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USASchyns, Tsveta论文数: 0 引用数: 0 h-index: 0机构: European Network Res Alternating Hemiplegia, Brussels, Belgium Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USASweadner, Kathleen J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAvan den Maagdenberg, Am论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Human Genet, Med Ctr, NL-2300 RA Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USAVilsen, Bente论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Dept Biomed, Aarhus, Denmark Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27008 USA
- [27] UNUSUAL CEREBELLAR STROKE MIMIC WITH ATP1A3 MUTATIONJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2019, 90 (12): : E23 - E23Ahmed, Fuhad论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Undergrad Med Sch, Glasgow, Lanark, Scotland Univ Glasgow, Undergrad Med Sch, Glasgow, Lanark, ScotlandMacDougall, Niall John James论文数: 0 引用数: 0 h-index: 0机构: Hairmyres Hosp, Neurol Dept, E Kilbride, Lanark, Scotland Queen Elizabeth Univ Hosp, Inst Neurol Sci, Glasgow, Lanark, Scotland Univ Glasgow, Undergrad Med Sch, Glasgow, Lanark, Scotland
- [28] The Broadening Clinical Spectrum Associated with ATP1A3 MutationsNEUROLOGY, 2016, 86Meijer, Inge论文数: 0 引用数: 0 h-index: 0机构: Beth Isreal Med Ctr, New York, NY USALubarr, Naomi论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Beth Israel, New York, NY USA Beth Isreal Med Ctr, New York, NY USAGreene, Paul论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai, New York, NY USA Beth Isreal Med Ctr, New York, NY USAFrucht, Steven论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Med Ctr, New York, NY 10029 USA Beth Isreal Med Ctr, New York, NY USARaymond, Deborah论文数: 0 引用数: 0 h-index: 0机构: Beth Isreal Med Ctr, New York, NY USA Beth Isreal Med Ctr, New York, NY USASevert, William论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Beth Israel Med Ctr, New York, NY USA Beth Isreal Med Ctr, New York, NY USAShanker, Vicki论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Beth Israel, PACC, New York, NY USA Beth Isreal Med Ctr, New York, NY USASachdev, Rivka论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Beth Israel, New York, NY USA Beth Isreal Med Ctr, New York, NY USABressman, Susan论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Hlth Syst, New York, NY USA Beth Isreal Med Ctr, New York, NY USAOzelius, Laurie论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Charlestown, MA USA Beth Isreal Med Ctr, New York, NY USASaunders-Pullman, Rachel论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Beth Israel, New York, NY USA Beth Isreal Med Ctr, New York, NY USA
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