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- [1] Mutational analysis of COASY in an Italian patient with NBIA[J]. PARKINSONISM & RELATED DISORDERS, 2016, 28 : 150 - 151Annesi, Grazia论文数: 0 引用数: 0 h-index: 0机构: CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, Italy CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, ItalyGagliardi, Monica论文数: 0 引用数: 0 h-index: 0机构: CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, Italy CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, ItalyIannello, Grazia论文数: 0 引用数: 0 h-index: 0机构: CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, Italy Magna Graecia Univ Catanzaro, Inst Neurol, Dept Med & Surg Sci, Catanzaro, Italy CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, ItalyQuattrone, Aldo论文数: 0 引用数: 0 h-index: 0机构: CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, Italy Magna Graecia Univ Catanzaro, Inst Neurol, Dept Med & Surg Sci, Catanzaro, Italy CNR, Sect Germaneto, Inst Mol Bioimaging & Physiol, Catanzaro, Italy
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AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (01) : 11 - 22Dusi, Sabrina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyValetta, Lorella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyTsuchiya, Yugo论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Struct & Mol Biol, London WC1E 6BT, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyVenco, Paola论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tigano, Marco论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Life Sci, I-43124 Parma, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyDemchenko, Nikita论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Struct & Mol Biol, London WC1E 6BT, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalySchwarzmayr, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyInvernizzi, Federica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyGaravaglia, Barbara论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyGregory, Allison论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97329 USA IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalySanford, Lynn论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97329 USA IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyHamada, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97329 USA IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyBettencourt, Conceicao论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyChiapparini, Luisa论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Neuroradiol, I-20133 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyZorzi, Giovanna论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Child Neurol, I-20133 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Neurosci Unit, London WC1N 3JH, England Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyNardocci, Nardo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Child Neurol, I-20133 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Munich, Germany IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyHayflick, Susan论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97329 USA IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyGout, Ivan论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Struct & Mol Biol, London WC1E 6BT, England IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, ItalyTiranti, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy IRCCS Fdn Neurol Inst C Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Mitochondria, I-20126 Milan, Italy
- [3] Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (07) : 1878 - 1886Evers, Christina论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanySeitz, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Heidelberg, Dept Neuroradiol, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyAssmann, Birgit论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ Hosp, Ctr Child & Adolescent Med, Pediat Neurol, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyOpladen, Thomas论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ Hosp, Ctr Child & Adolescent Med, Pediat Neurol, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyKarch, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ Hosp, Ctr Child & Adolescent Med, Pediat Neurol, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyHinderhofer, Katrin论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyGranzow, Martin论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyParamasivam, Nagarajan论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, Div Theoret Bioinformat, Heidelberg, Germany Heidelberg Univ, Med Fac Heidelberg, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany论文数: 引用数: h-index:机构:Diessl, Nicolle论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, GPCF, High Throughput Sequencing, Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyBartram, Claus R.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, GermanyMoog, Ute论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany Heidelberg Univ, Inst Human Genet, Neuenheimer Feld 440, D-69120 Heidelberg, Germany
- [4] Neurodegeneration with Brain Iron Accumulation: Diagnosis and Managementl[J]. JOURNAL OF MOVEMENT DISORDERS, 2015, 8 (01) : 1 - 13Hogarth, Penelope论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Dept Mol & Med Genet, 3181 SW Sam Jackson Pk Rd,Mail Code L-103, Portland, OR 97123 USA Oregon Hlth & Sci Univ, Dept Mol & Med Genet, 3181 SW Sam Jackson Pk Rd,Mail Code L-103, Portland, OR 97123 USA