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- [21] Phenotypic variability in sisters with VPS13A disease (chorea-acanthocytosis)IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE, 2025, 78 (1-2):Oner, Ozge Gonul论文数: 0 引用数: 0 h-index: 0机构: Istanbul Medeniyet Univ, Goztepe Prof Dr Suleyman Yalcin City Hosp, Sch Med, Dept Neurol, Istanbul, Turkiye Istanbul Medeniyet Univ, Goztepe Prof Dr Suleyman Yalcin City Hosp, Sch Med, Dept Neurol, Istanbul, TurkiyeVaroglu, Asuman Orhan论文数: 0 引用数: 0 h-index: 0机构: Istanbul Medeniyet Univ, Goztepe Prof Dr Suleyman Yalcin City Hosp, Sch Med, Dept Neurol, Istanbul, Turkiye Istanbul Medeniyet Univ, Goztepe Prof Dr Suleyman Yalcin City Hosp, Sch Med, Dept Neurol, Istanbul, Turkiye
- [22] Chorea-acanthocytosis: neuropathology of brain and peripheral nerveCLINICAL NEUROPATHOLOGY, 2002, 21 (02) : 77 - 81Vital, A论文数: 0 引用数: 0 h-index: 0机构: Victor Segalen Univ, Dept Neuropathol, F-33076 Bordeaux 2, FranceBouillot, S论文数: 0 引用数: 0 h-index: 0机构: Victor Segalen Univ, Dept Neuropathol, F-33076 Bordeaux 2, FranceBurbaud, P论文数: 0 引用数: 0 h-index: 0机构: Victor Segalen Univ, Dept Neuropathol, F-33076 Bordeaux 2, FranceFerrer, X论文数: 0 引用数: 0 h-index: 0机构: Victor Segalen Univ, Dept Neuropathol, F-33076 Bordeaux 2, FranceVital, C论文数: 0 引用数: 0 h-index: 0机构: Victor Segalen Univ, Dept Neuropathol, F-33076 Bordeaux 2, France
- [23] Globus Pallidus Interna Deep Brain Stimulation Improves Chorea and Functional Status in a Patient with Chorea-AcanthocytosisSTEREOTACTIC AND FUNCTIONAL NEUROSURGERY, 2012, 90 (04) : 273 - 277Shin, Hyeeun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaKi, Chang-Seok论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaCho, Ah Ra论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaLee, Jung-Il论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurosurg, Seoul 135710, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaAhn, Jin Young论文数: 0 引用数: 0 h-index: 0机构: Seoul Med Ctr, Dept Neurol, Seoul, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaLee, Jae-Hyeok论文数: 0 引用数: 0 h-index: 0机构: Pusan Natl Univ, Yangsan Hosp, Dept Neurol, Yangsan, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South KoreaCho, Jin Whan论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South Korea Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Neurol, Seoul 135710, South Korea
- [24] Primary skeletal muscle involvement in chorea-acanthocytosisMOVEMENT DISORDERS, 2007, 22 (06) : 848 - 852论文数: 引用数: h-index:机构:Sakai, Koichiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanMurata, Ken-ya论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanSaiki, Misuzu论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanNakanishi, Megumi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanKitagawa, Yoko论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanKaito, Muichi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanGondo, Yuichiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanKumamoto, Toshihide论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanMatsui, Makoto论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanHattori, Nobutaka论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, JapanHirose, Genjiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Med Univ, Dept Neurol, Kahoku, Ishikawa 9200293, Japan
- [25] Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosisEUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (11) : 773 - +Dobson-Stone, C论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDanek, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandRampoldi, L论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandHardie, RJ论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandChalmers, RM论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWood, NW论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandBohlega, S论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDotti, MT论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandFederico, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandShizuka, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandTanaka, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWatanabe, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandIkeda, Y论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandBrin, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGoldfarb, LG论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandKarp, BI论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMohiddin, S论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandFananapazir, L论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandStorch, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandFryer, AE论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMaddison, P论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSibon, I论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandTrevisol-Bittencourt, PC论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSinger, C论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandCaballero, IR论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandAasly, JO论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSchmierer, K论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDengler, R论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandHiersemenzel, LP论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandZeviani, M论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMeiner, V论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLossos, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandJohnson, S论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMercado, FC论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSorrentino, G论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDupré, N论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandRouleau, GA论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandVolkmann, J论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandArpa, J论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLees, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGeraud, G论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandChouinard, S论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandNémeth, A论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMonaco, AP论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
- [26] Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosisEuropean Journal of Human Genetics, 2002, 10 : 773 - 781C Dobson-Stone论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisA Danek论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisL Rampoldi论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisRJ Hardie论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisRM Chalmers论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisNW Wood论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisS Bohlega论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre For Human Genetics,Department of Molecular PathogenesisMT Dotti论文数: 0 引用数: 0 h-index: 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- [27] HyperCKemia instead of Hyperkalemia in Chorea-AcanthocytosisCELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2017, 41 (03) : 1267 - 1268Danek, Adrian论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Neurol Klin, Postfach 701260, D-81366 Munich, Germany Ludwig Maximilians Univ Munchen, Neurol Klin, Postfach 701260, D-81366 Munich, GermanyWalker, Ruth H.论文数: 0 引用数: 0 h-index: 0机构: James J Peters Vet Affairs Med Ctr, Dept Neurol, Bronx, NY USA Ludwig Maximilians Univ Munchen, Neurol Klin, Postfach 701260, D-81366 Munich, Germany
- [28] The "Stutter-Step": A Peculiar Gait Feature in Advanced Huntington's Disease and Chorea-AcanthocytosisMOVEMENT DISORDERS CLINICAL PRACTICE, 2018, 5 (02): : 223 - 224Termsarasab, Pichet论文数: 0 引用数: 0 h-index: 0机构: Case Western Reserve Univ, Cleveland, OH 44106 USA Case Western Reserve Univ, Cleveland, OH 44106 USAFrucht, Steven J.论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, Neurol Dept, Movement Disorder Div, New York, NY USA Case Western Reserve Univ, Cleveland, OH 44106 USA
- [29] Subcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's diseasePARKINSONISM & RELATED DISORDERS, 2018, 49 : 54 - 59Liu, Jia论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R China Ludwig Maximilians Univ Munchen, Neurol Klin & Poliklin, Munich, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaHeinsen, Helmut论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wurzburg, Ctr Mental Hlth, Dept Psychiat Psychosomat & Psychotherapy, Wurzburg, Germany Univ Sao Paulo, Med Sch, Dept Pathol, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Dept Radiol, Sao Paulo, Brazil Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaGrinberg, Lea T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaAlho, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Praca Amadeu Amaral 27,Cj 31, Sao Paulo, Brazil Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaAmaro, Edson, Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch, Dept Radiol, Sao Paulo, Brazil Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaPasqualucci, Carlos A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch, Dept Pathol, Sao Paulo, Brazil Univ Sao Paulo, Med Sch, Dept Radiol, Sao Paulo, Brazil Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaRueb, Udo论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ, Dr Senckenberg Chronomed Inst, Frankfurt, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R Chinaden Dunnen, Wilfred论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Pathol & Med Biol, Groningen, Netherlands Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaArzberger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Ctr Neuropathol & Prion Res, Munich, Germany Ludwig Maximilian Univ Munich, Dept Psychiat & Psychotherapy, Munich, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaSchmitz, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dept Neuroanat, Munich, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaKiessling, Maren论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dept Neuroanat, Munich, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaBader, Benedikt论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Neurol Klin & Poliklin, Munich, Germany Clienia Privatklin Psychiat & Psychotherapie, Oetwil Am See, Switzerland Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R ChinaDanek, Adrian论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Neurol Klin & Poliklin, Munich, Germany Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R China
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