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- [1] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaJOURNAL OF HUMAN GENETICS, 2019, 64 (01) : 55 - 59Koh, Kishin论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanIchinose, Yuta论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanIshiura, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanNan, Haitian论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanMitsui, Jun论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Mol Neurol, Tokyo, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanTakahashi, Junya论文数: 0 引用数: 0 h-index: 0机构: Natl Mie Hosp, Dept Pediat, Tsu, Mie, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan论文数: 引用数: h-index:机构:Itoh, Yoshiaki论文数: 0 引用数: 0 h-index: 0机构: Osaka City Univ, Dept Neurol, Osaka, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanHoshino, Kyoko论文数: 0 引用数: 0 h-index: 0机构: Minamiwakayama Med Ctr, Dept Pediat, Wakayama, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanTsuji, Shoji论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Mol Neurol, Tokyo, Japan Int Univ Hlth & Welf, Grad Sch, Chiba, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, JapanTakiyama, Yoshihisa论文数: 0 引用数: 0 h-index: 0机构: Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan Univ Yamanashi, Interdisciplinary Grad Sch Med & Engn, Dept Neurol, Kofu, Yamanashi, Japan
- [2] PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegiaCLINICAL GENETICS, 2017, 92 (05) : 534 - 539Ozes, B.论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyKaragoz, N.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Training & Res Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeySchuele, R.论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res & Ctr Neurol, Dept Neurodegenerat, Tubingen, Germany Univ Tubingen, German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyRebelo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, Miami, FL 33136 USA Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeySobrido, M. -J.论文数: 0 引用数: 0 h-index: 0机构: FPGMX IDIS, Neurogenet Grp, Santiago De Compostela, Spain Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyHarmuth, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeySynofzik, M.论文数: 0 引用数: 0 h-index: 0机构: Hertie Inst Clin Brain Res & Ctr Neurol, Dept Neurodegenerat, Tubingen, Germany Univ Tubingen, German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyPascual, S. I. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Hosp Univ La Paz, Prof Asociado Dept Pediat, Serv Neurol Pediat, Madrid, Spain Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyColak, M.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Training & Res Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyCiftci-Kavaklioglu, B.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Training & Res Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyKara, B.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Dr Sadi Konuk Training & Res Hosp, Dept Radiol, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyOrdonez-Ugalde, A.论文数: 0 引用数: 0 h-index: 0机构: FPGMX IDIS, Neurogenet Grp, Santiago De Compostela, Spain Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyQuintans, B.论文数: 0 引用数: 0 h-index: 0机构: FPGMX IDIS, Neurogenet Grp, Santiago De Compostela, Spain Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyGonzalez, M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, Miami, FL 33136 USA Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeySoysal, A.论文数: 0 引用数: 0 h-index: 0机构: Bakirkoy Training & Res Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyZuchner, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Gen, Miami, FL 33136 USA Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, TurkeyBattaloglu, E.论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey
- [3] Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPiMOVEMENT DISORDERS, 2016, 31 : S229 - S229Magalhaes, A. D.论文数: 0 引用数: 0 h-index: 0Correia Guedes, L.论文数: 0 引用数: 0 h-index: 0Coelho, M.论文数: 0 引用数: 0 h-index: 0Teodoro, T.论文数: 0 引用数: 0 h-index: 0Valadas, A.论文数: 0 引用数: 0 h-index: 0Carvalho, H.论文数: 0 引用数: 0 h-index: 0Cattoni, B.论文数: 0 引用数: 0 h-index: 0Ferreira, J. J.论文数: 0 引用数: 0 h-index: 0
- [4] Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPiEUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 655 - 655Magalhaes, A. D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurol Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalGuedes, L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurol Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalCoelho, M. V. S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurol Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalTeodoro, T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurol Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalValadas, A. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Bernardo, Dept Neurol, Setubal, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalCarvalho, H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurosurg Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalCattoni, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurosurg Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, PortugalFerreira, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Neurol Dept, Lisbon, Portugal Hosp Santa Maria, Neurol Dept, Lisbon, Portugal
- [5] Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegiaJournal of Human Genetics, 2019, 64 : 61 - 63Kishin Koh论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringYuta Ichinose论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringHiroyuki Ishiura论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringHaitian Nan论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringJun Mitsui论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringJunya Takahashi论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringWakiro Sato论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringYoshiaki Itoh论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringKyoko Hoshino论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringShoji Tsuji论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and EngineeringYoshihisa Takiyama论文数: 0 引用数: 0 h-index: 0机构: University of Yamanashi,Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering
- [6] A novel homozygous PLA2G6 mutation causes dystonia-parkinsonismPARKINSONISM & RELATED DISORDERS, 2015, 21 (03) : 337 - 339Malaguti, M. C.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyMelzi, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Giacopo, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Ctr Mind Brain Sci CIMEC, Ctr Riabilitaz Neurocognit CeRiN, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyMonfrini, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Biase, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFranco, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Compagnoni, G. Monzio论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFortis, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Trento, Ctr Mind Brain Sci CIMEC, Ctr Riabilitaz Neurocognit CeRiN, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyFeraco, P.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Radiol, SS Neuroradiol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyOrrico, D.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyCucurachi, L.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Neurol, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDonner, D.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Nucl Med, Trento, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyRizzuti, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyRonchi, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyBonato, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy论文数: 引用数: h-index:机构:Corti, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyComi, G. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, ItalyDi Fonzo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr,Neurosci Sect, Milan, Italy Santa Chiara Hosp, Dept Neurol, Trento, Italy
- [7] ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegiaNEUROLOGY-GENETICS, 2018, 4 (02)Bouwkamp, Christian G.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Psychiat, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsAfawi, Zaid论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsFattal-Valevski, Aviva论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Sch Med, Ramat Aviv, Israel Tel Aviv Med Ctr & Sch Med, Dana Childrens Hosp, Pediat Neurol Unit, Tel Aviv, Israel Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsKrabbendam, Inge E.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Groningen Res Inst Pharm, Dept Mol Pharmacol, Groningen, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsRivetti, Stefano论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Psychiat, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsMasalha, Rafik论文数: 0 引用数: 0 h-index: 0机构: Clalit Hlth Serv, Sharon Shomron, Hadera District, Israel Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsQuadri, Marialuisa论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsBreedveld, Guido J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsMandel, Hanna论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Meyer Childrens Hosp, Metab Dis Unit, Haifa, Israel Technion Fac Med, Haifa, Israel Erasmus MC, Dept Psychiat, Rotterdam, Netherlands论文数: 引用数: h-index:机构:Beverloo, H. Berna论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsStevanin, Giovanni论文数: 0 引用数: 0 h-index: 0机构: PSL Res Univ, Ecole Prat Hautes Etud, Neurogenet Lab, Paris, France Pierre & Marie Curie Univ, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, UMR S1127,INSERM u1127,CNRS UMR5225, Paris, France Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Pierre & Marie Curie Univ, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, UMR S1127,INSERM u1127,CNRS UMR5225, Paris, France Erasmus MC, Dept Psychiat, Rotterdam, Netherlandsvan IJcken, Wilfred F. J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Ctr Biom, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsVernooij, Meike W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Radiol, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsDolga, Amalia M.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Groningen Res Inst Pharm, Dept Mol Pharmacol, Groningen, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlandsde Vrij, Femke M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Psychiat, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsBonifati, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, NetherlandsKushner, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Psychiat, Rotterdam, Netherlands Erasmus MC, Dept Psychiat, Rotterdam, Netherlands
- [8] PLA2G6 mutation underlies infantile neuroaxonal dystrophyAMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (05) : 942 - 948Khateeb, Shareef论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelFlusser, Hagit论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelOfir, Rivka论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelShelef, Ilan论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelNarkis, Ginat论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelVardi, Gideon论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelShorer, Zamir论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelLevy, Rachel论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelGalil, Aharon论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelElbedour, Khalil论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, IsraelBirk, Ohad S.论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Morris Kahn Lab Human Genet, Natl Inst Biotechnol, IL-84105 Beer Sheva, Israel
- [9] Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 geneJOURNAL OF GENETICS, 2020, 99 (01)Allouche, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Lab Biochim, Ave Cote Nacre, F-14033 Caen, France CHU Caen, Lab Biochim, Ave Cote Nacre, F-14033 Caen, France
- [10] PLA2G6 mutation producing a case of atypical neuroaxonal dystrophyMOVEMENT DISORDERS, 2008, 23 (01) : S51 - S51Soliveri, P.论文数: 0 引用数: 0 h-index: 0Girotti, F.论文数: 0 引用数: 0 h-index: 0Ciano, C.论文数: 0 引用数: 0 h-index: 0Zorzi, G.论文数: 0 引用数: 0 h-index: 0Chiapparini, L.论文数: 0 引用数: 0 h-index: 0Albanese, A.论文数: 0 引用数: 0 h-index: 0Garavaglia, B.论文数: 0 引用数: 0 h-index: 0Nardocci, N.论文数: 0 引用数: 0 h-index: 0