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- [1] COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency[J]. ANNALS OF NEUROLOGY, 2019, 86 (02) : 193 - 202论文数: 引用数: h-index:机构:Uchino, Shumpei论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Teikyo Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanIida, Aritoshi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Med Genome Ctr, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Takahashi, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Saiseikai Utsunomiya Hosp, Dept Pediat, Utsunomiya, Tochigi, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanFujii, Katsunori论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Dept Pediat, Grad Sch Med, Chiba, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanKomaki, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, Natl Ctr Hosp, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanTakeshita, Eri论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, Natl Ctr Hosp, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanNonaka, Ikuya论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanOkada, Yukinori论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanYoshizawa, Takuya论文数: 0 引用数: 0 h-index: 0机构: Ritsumeikan Univ, Coll Life Sci, Kusatsu, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanVan Lommel, Leentje论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Fac Med, Dept Cellular & Mol Med, Leuven, Belgium Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanSchuit, Frans论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Fac Med, Dept Cellular & Mol Med, Leuven, Belgium Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanGoto, Yu-ichi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Med Genome Ctr, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Natl Ctr Neurol & Psychiat, Dept Child Neurol, Natl Ctr Hosp, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, JapanMimaki, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Mental Retardat & Birth Defect Res, Tokyo, Japan Teikyo Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, Japan论文数: 引用数: h-index:机构:
- [2] INVESTIGATION OF MUSCLE-SPECIFIC CYTOCHROME-C-OXIDASE (COX) SUBUNIT MESSENGER-RNAS IN COX-DEFICIENT MYOPATHIES[J]. ANNALS OF NEUROLOGY, 1994, 36 (02) : 319 - 319ARNAUDO, E论文数: 0 引用数: 0 h-index: 0HIRANO, M论文数: 0 引用数: 0 h-index: 0DIMAURO, S论文数: 0 引用数: 0 h-index: 0SCHON, EA论文数: 0 引用数: 0 h-index: 0
- [3] Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy[J]. HUMAN MUTATION, 2015, 36 (01) : 34 - 38Baertling, Fabian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlandsvan den Brand, Mariel A. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsHertecant, Jozef L.论文数: 0 引用数: 0 h-index: 0机构: Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsAl-Shamsi, Aisha论文数: 0 引用数: 0 h-index: 0机构: Tawam Hosp, Dept Pediat, Al Ain, U Arab Emirates Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlandsvan den Heuvel, Lambert P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsDistelmaier, Felix论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsMayatepek, Ertan论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsSmeitink, Jan A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsNijtmans, Leo G. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, NetherlandsRodenburg, Richard J. T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, Ga Nijmegen, Netherlands
- [4] Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (03) : 676 - 681Ruggeri, Gaia论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USATimms, Andrew E.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Dev Biol & Regenerat Med, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USACheng, Chi论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAWeiss, Avery论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Ophthalmol, Roger H Johnson Vis Lab, Seattle, WA USA Univ Washington, Sch Med, Dept Ophthalmol, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAKollros, Peter论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Pediat Neurol, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAChapman, Teresa论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Dept Radiol, Seattle, WA USA Univ Washington, Sch Med, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USATully, Hannah论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Seattle Childrens Hosp, Div Pediat Neurol, Seattle, WA USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USAMirzaa, Ghayda M.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, 1900 9th Ave,Mailstop M-S JMB 10, Seattle, WA 98101 USA
- [5] Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 106 (01) : 92 - 101Alston, Charlotte L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandVeling, Mike T.论文数: 0 引用数: 0 h-index: 0机构: Morgridge Inst Res, Madison, WI 53715 USA Univ Wisconsin Madison, Dept Biochem, Madison, WI 53706 USA Harvard Med Sch, Dept Syst Biol, Boston, MA 02115 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandHeidler, Juliana论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ, Funct Prote, D-60590 Frankfurt, Germany Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandTaylor, Lucie S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandAlaimo, Joseph T.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandSung, Andrew Y.论文数: 0 引用数: 0 h-index: 0机构: Morgridge Inst Res, Madison, WI 53715 USA Univ Wisconsin Madison, Dept Biochem, Madison, WI 53706 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandHe, Langping论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandHopton, Sila论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandBroomfield, Alexander论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, Oxford Rd, Manchester M13 9WL, Lancs, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandPavaine, Julija论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Acad Unit Paediat Radiol, Oxford Rd, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Hlth Sci, Div Informat Imaging & Data Sci, Oxford Rd, Manchester M13 9PT, Lancs, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandDiaz, Jullianne论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Rare Dis Inst, Washington, DC 20010 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandLeon, Eyby论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Rare Dis Inst, Washington, DC 20010 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandWolf, Philipp论文数: 0 引用数: 0 h-index: 0机构: DRK Kinderklin Siegen, Wellersbergstr 60, D-57072 Siegen, Germany Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandMcFarland, Robert论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandProkisch, 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 Neuherberg, Germany Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandWortmann, Saskia 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 Neuherberg, Germany PMU, Salzburger Landeskliniken SALK, Dept Pediat, A-5020 Salzburg, Austria Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandBonnen, Penelope E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandWittig, Ilka论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ, Funct Prote, D-60590 Frankfurt, Germany German Ctr Cardiovasc Res DZHK, Partner Site RheinMain, D-60590 Frankfurt, Germany Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandPagliarini, David J.论文数: 0 引用数: 0 h-index: 0机构: Morgridge Inst Res, Madison, WI 53715 USA Univ Wisconsin Madison, Dept Biochem, Madison, WI 53706 USA Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, EnglandTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, NHS Highly Specialised Serv Rare Mitochondrial Di, Queen Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Wellcome Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
- [6] Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit via and its chromosomal location in humans, mice, and cattle[J]. GENOMICS, 1997, 42 (01) : 146 - 151Bachman, NJ论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109Riggs, PK论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109Siddiqui, N论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109Makris, GJ论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109Womack, JE论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109Lomax, MI论文数: 0 引用数: 0 h-index: 0机构: UNIV MICHIGAN,SCH MED,DEPT ANAT & CELL BIOL,ANN ARBOR,MI 48109
- [7] Cytochrome c oxidase deficiency in two patients due to mutations in COX10[J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2024, 1865 : 105 - 105Hansikova, Hana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicStufkova, Hana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicRychtarova, Lucie论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicVanisova, Marie论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicKrizova, Jana论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicZeman, Jiri论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicHonzik, Tomas论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech RepublicTesarova, Marketa论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic
- [8] BENIGN REVERSIBLE MUSCLE CYTOCHROME-C-OXIDASE (COX) DEFICIENCY - A 2ND CASE[J]. NEUROLOGY, 1986, 36 (04) : 151 - 151ZEVIANI, M论文数: 0 引用数: 0 h-index: 0PETERSON, P论文数: 0 引用数: 0 h-index: 0SERVIDEI, S论文数: 0 引用数: 0 h-index: 0BONILLA, E论文数: 0 引用数: 0 h-index: 0DIMAURO, S论文数: 0 引用数: 0 h-index: 0
- [9] Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (05) : 817 - 825Danhauser, Katharina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 Neuherberg, Germany Ludwig Maximilian Univ Munich, Univ Hosp, Dr von Hauner Childrens Hosp, Dept Pediat, D-80337 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyAlhaddad, Bader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 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMakowski, Christine论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Pediat, D-80804 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyPiekutowska-Abramczuk, Dorota论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Med Genet, PL-04730 Warsaw, Poland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySyrbe, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Neuropediat & Metab Med, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyGomez-Ospina, Natalia论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyManning, Melanie A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKostera-Pruszczyk, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neurol, PL-02097 Warsaw, Poland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKrahn-Peper, Claudia论文数: 0 引用数: 0 h-index: 0机构: Heilpadag Therapeut Zentrum gGmbH, Sozialpadiatr Zentrum, Neuwied D-56564, Greece Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyBerutti, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKovacs-Nagy, Reka论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyGusic, Mirjana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 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyLaugwitz, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Pediat Neurol & Dev Med, D-72072 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyRoeblitz, Michaela论文数: 0 引用数: 0 h-index: 0机构: St Josephs Hosp, Zentrum Kinder & Jugendmed, Wusthoffstr 15, D-12101 Berlin, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyWroblewski, Andreas论文数: 0 引用数: 0 h-index: 0机构: St Josephs Hosp, Zentrum Kinder & Jugendmed, Wusthoffstr 15, D-12101 Berlin, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHartmann, Hans论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Clin Pediat Kidney Liver & Metab Dis, D-30625 Hannover, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyDas, Anibh M.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Clin Pediat Kidney Liver & Metab Dis, D-30625 Hannover, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyBueltmann, Eva论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Diagnost & Intervent Neuroradiol, D-30625 Hannover, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany论文数: 引用数: h-index:机构:Xu, Manting论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Dept Pediat Neurol, Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanySchatz, Ulrich A.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Med Univ Innsbruck, Div Human Genet, A-6020 Innsbruck, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyKarall, Daniela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Pediat Clin, Div Inherited Metab Disorders, A-6020 Innsbruck, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyZellner, Herta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Pediat Clin, Div Inherited Metab Disorders, A-6020 Innsbruck, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHaberlandt, Edda论文数: 0 引用数: 0 h-index: 0机构: Krankenhaus Stadt Dornbirn, Pediat Clin, A-6850 Dornbirn, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyFeichtinger, Rene G.论文数: 0 引用数: 0 h-index: 0机构: ParacelsusMed Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMayr, Johannes A.论文数: 0 引用数: 0 h-index: 0机构: ParacelsusMed Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMeitinger, Thomas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 Neuherberg, Germany Munich Cluster Syst Neurol SyNergy, D-81377 Munich, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany论文数: 引用数: h-index:机构:Strom, 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 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, PL-02106 Warsaw, Poland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Div Neuropediat & Metab Med, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyPronicki, Maciej论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Pathol, PL-04730 Warsaw, Poland Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyBonnen, Penelope E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyMorlot, Susanne论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, GermanyHaack, 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 Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Ctr Rare Dis, D-72076 Tubingen, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany
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