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Journal Abstract Search

211 related items for PubMed ID: 34877647

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  • 2. Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome.
    Na JH, Lee YM.
    Pediatr Neurol; 2023 Jan; 138():27-32. PubMed ID: 36335839
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  • 4. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
    Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ.
    Hum Mutat; 2019 May; 40(5):499-515. PubMed ID: 30763462
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  • 5. Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
    Yu XL, Yan CZ, Ji KQ, Lin PF, Xu XB, Dai TJ, Li W, Zhao YY.
    Chin Med J (Engl); 2018 Nov 20; 131(22):2705-2712. PubMed ID: 30425197
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  • 7. Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum.
    Takada R, Tozawa T, Kondo H, Kizaki Z, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Chiyonobu T.
    Brain Dev; 2020 Jan 20; 42(1):69-72. PubMed ID: 31500933
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  • 11. Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.
    Martins S, Santos MJ, Simões M, Jacinto S, Martins Halpern C, Dupont J, Diogo L, Grazina M.
    Endocr Metab Immune Disord Drug Targets; 2023 Oct 04. PubMed ID: 37817524
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  • 14. [Clinical and genetic characteristics of children with Leigh syndrome].
    Fang F, Shen Y, Shen DM, Liu ZM, Ding CH, Zhang WC, Sun SZ, Lyu JL, Han TL, Wang XH, Zhang WH, Yang XY, Li JW, Wu HS.
    Zhonghua Er Ke Za Zhi; 2017 Mar 02; 55(3):205-209. PubMed ID: 28273704
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  • 15. Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6.
    Lorenz C, Zink A, Henke MT, Staege S, Mlody B, Bünning M, Wanker E, Diecke S, Schuelke M, Prigione A.
    Stem Cell Res; 2022 May 02; 61():102742. PubMed ID: 35279592
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  • 19. Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
    Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F.
    Ann Neurol; 2022 Apr 02; 91(4):466-482. PubMed ID: 35094435
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