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- [21] Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationJOURNAL OF MEDICAL GENETICS, 2016, 53 (03) : 180 - 189Davids, Mariska论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAKane, Megan S.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAHe, Miao论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Michael J Palmieri Metab Lab, Philadelphia, PA 19104 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAWolfe, Lynne A.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USALi, Xueli论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Michael J Palmieri Metab Lab, Philadelphia, PA 19104 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USARaihan, Mohd A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Michael J Palmieri Metab Lab, Philadelphia, PA 19104 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAChao, Katherine R.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USABone, William P.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USABoerkoel, Cornelius F.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAGahl, William A.论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USAToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA NIH, Off Clin Director, NHGRI, Bldg 10, Bethesda, MD 20892 USA NIH, NIH Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA
- [22] Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated NeurodegenerationNEUROBIOLOGY OF DISEASE, 2022, 165Villalon-Garcia, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainAlvarez-Cordoba, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain论文数: 引用数: h-index:机构:Talaveron-Rey, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainVillanueva-Paz, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainLuzon-Hidalgo, Raquel论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainSuarez-Rivero, Juan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainSuarez-Carrillo, Alejandra论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainMunuera-Cabeza, Manuel论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainSalas, Joaquin J.论文数: 0 引用数: 0 h-index: 0机构: Inst Grasa CSIC, Dept Bioquim & Biol Mol Prod Vegetales, Seville, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainFalcon-Moya, Rafael论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide, Dept Fisiol Anat & Biol Celular, Lab Neurociencia Celular & Plasticidad, Seville, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain论文数: 引用数: h-index:机构:Armengol, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide, Dept Fisiol Anat & Biol Celular, Seville, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, SpainSanchez-Alcazar, Jose A.论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Univ Pablo de Olavide Sevilla, CSIC, Ctr Andaluz Biol Desarrollo CABD, Seville, Spain
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- [24] 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
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- [26] GENOTYPE-PHENOTYPE CORRELATIONS OF ADULT-ONSET PLA2G6-ASSOCIATED NEURODEGENERATIONPARKINSONISM & RELATED DISORDERS, 2020, 79 : E29 - E29Lin, C. -H.论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanChu, Y. -T.论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanLin, H. -Y.论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Neurol, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanChen, P. -L.论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, Taiwan
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- [30] Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegenerationEUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 (04) : e24 - e25Kraoua, I.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaRomani, M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Mendel Lab, San Giovanni Rotondo, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaTonduti, D.论文数: 0 引用数: 0 h-index: 0机构: C Besta Fdn IRCCS, Neurol Inst, Child Neurol Dept, Milan, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaBenRhouma, H.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaZorzi, G.论文数: 0 引用数: 0 h-index: 0机构: C Besta Fdn IRCCS, Neurol Inst, Child Neurol Dept, Milan, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaZibordi, F.论文数: 0 引用数: 0 h-index: 0机构: C Besta Fdn IRCCS, Neurol Inst, Child Neurol Dept, Milan, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaArdissone, A.论文数: 0 引用数: 0 h-index: 0机构: C Besta Fdn IRCCS, Neurol Inst, Child Neurol Dept, Milan, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaGouider-Khouja, N.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaBen Youssef-Turki, I.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, TunisiaNardocci, N.论文数: 0 引用数: 0 h-index: 0机构: C Besta Fdn IRCCS, Neurol Inst, Child Neurol Dept, Milan, Italy Natl Inst Mongi Ben Hmida Neurol, Dept Child & Adolescent Neurol, Tunis, Tunisia论文数: 引用数: h-index:机构: