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23. Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). Claeys KG; Abicht A; Häusler M; Kleinle S; Wiesmann M; Schulz JB; Horvath R; Weis J Muscle Nerve; 2016 Aug; 54(2):328-33. PubMed ID: 27015314 [TBL] [Abstract][Full Text] [Related]
24. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Verny C; Guegen N; Desquiret V; Chevrollier A; Prundean A; Dubas F; Cassereau J; Ferre M; Amati-Bonneau P; Bonneau D; Reynier P; Procaccio V Mitochondrion; 2011 Jan; 11(1):70-5. PubMed ID: 20656066 [TBL] [Abstract][Full Text] [Related]
25. Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. Kucharczyk R; Giraud MF; Brèthes D; Wysocka-Kapcinska M; Ezkurdia N; Salin B; Velours J; Camougrand N; Haraux F; di Rago JP Int J Biochem Cell Biol; 2013 Jan; 45(1):130-40. PubMed ID: 22789932 [TBL] [Abstract][Full Text] [Related]
26. Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? Piekutowska-Abramczuk D; Rutyna R; Czyżyk E; Jurkiewicz E; Iwanicka-Pronicka K; Rokicki D; Stachowicz S; Strzemecka J; Guz W; Gawroński M; Kosierb A; Ligas J; Puchala M; Drelich-Zbroja A; Bednarska-Makaruk M; Dąbrowski W; Ciara E; Książyk JB; Pronicka E Metab Brain Dis; 2018 Feb; 33(1):191-199. PubMed ID: 29116603 [TBL] [Abstract][Full Text] [Related]
27. [Mutation of MTCYB and MTATP6 is associated with asthenospermia]. Feng CQ; Song YB; Zou YG; Mao XM Zhonghua Nan Ke Xue; 2008 Apr; 14(4):321-3. PubMed ID: 18481423 [TBL] [Abstract][Full Text] [Related]
28. Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy. Shanske S; Naini A; Chmait RH; Akman HO; Mansukhani M; Lu J; Hirano M; DiMauro S J Child Neurol; 2013 Feb; 28(2):264-8. PubMed ID: 22532554 [TBL] [Abstract][Full Text] [Related]
29. A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli. Carrozzo R; Rizza T; Lucioli S; Pierini R; Bertini E; Santorelli FM Acta Paediatr Suppl; 2004 May; 93(445):65-7. PubMed ID: 15176724 [TBL] [Abstract][Full Text] [Related]
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31. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644 [TBL] [Abstract][Full Text] [Related]
32. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710 [TBL] [Abstract][Full Text] [Related]
33. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families]. Tesarová M; Hansíková H; Hlavatá A; Klement P; Houst'ková H; Houstĕk J; Zeman J Cas Lek Cesk; 2002 Aug; 141(17):551-4. PubMed ID: 12404959 [TBL] [Abstract][Full Text] [Related]
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36. Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Licchetta L; Ferri L; La Morgia C; Zenesini C; Caporali L; Lucia Valentino M; Minardi R; Fulitano D; Di Vito L; Mostacci B; Alvisi L; Avoni P; Liguori R; Tinuper P; Bisulli F; Carelli V Ann Clin Transl Neurol; 2021 Mar; 8(3):704-710. PubMed ID: 33476484 [TBL] [Abstract][Full Text] [Related]
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40. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA. Graf WD; Sumi SM; Copass MK; Ojemann LM; Longstreth WT; Shanske S; Lombes A; DiMauro S Ann Neurol; 1993 Jun; 33(6):640-5. PubMed ID: 8388680 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]