These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 22354625)

  • 21. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
    Mancuso M; Orsucci D; Angelini C; Bertini E; Carelli V; Comi GP; Minetti C; Moggio M; Mongini T; Servidei S; Tonin P; Toscano A; Uziel G; Bruno C; Caldarazzo Ienco E; Filosto M; Lamperti C; Martinelli D; Moroni I; Musumeci O; Pegoraro E; Ronchi D; Santorelli FM; Sauchelli D; Scarpelli M; Sciacco M; Spinazzi M; Valentino ML; Vercelli L; Zeviani M; Siciliano G
    Neurology; 2013 May; 80(22):2049-54. PubMed ID: 23635963
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.
    Larsson NG; Tulinius MH; Holme E; Oldfors A
    Muscle Nerve Suppl; 1995; 3():S102-6. PubMed ID: 7603509
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism.
    Masucci JP; Schon EA; King MP
    Mol Cell Biochem; 1997 Sep; 174(1-2):215-9. PubMed ID: 9309690
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
    Wu YT; Huang SC; Shiao YM; Syu WC; Wei YH; Hsu YC
    Hear Res; 2023 Oct; 438():108876. PubMed ID: 37683310
    [TBL] [Abstract][Full Text] [Related]  

  • 25. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
    Liu K; Zhao H; Ji K; Yan C
    Metab Brain Dis; 2014 Mar; 29(1):139-44. PubMed ID: 24338029
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
    Altmann J; Büchner B; Nadaj-Pakleza A; Schäfer J; Jackson S; Lehmann D; Deschauer M; Kopajtich R; Lautenschläger R; Kuhn KA; Karle K; Schöls L; Schulz JB; Weis J; Prokisch H; Kornblum C; Claeys KG; Klopstock T
    J Neurol; 2016 May; 263(5):961-972. PubMed ID: 26995359
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study.
    Fabbri A; Travaglione S; Maroccia Z; Guidotti M; Pierri CL; Primiano G; Servidei S; Loizzo S; Fiorentini C
    Int J Mol Sci; 2018 Jun; 19(7):. PubMed ID: 29933571
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA.
    Chou SJ; Ko YL; Yang YH; Yarmishyn AA; Wu YT; Chen CT; Lee HC; Wei YH; Chiou SH
    Stem Cell Res; 2018 Jul; 30():201-205. PubMed ID: 29960149
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations.
    James AM; Sheard PW; Wei YH; Murphy MP
    Eur J Biochem; 1999 Jan; 259(1-2):462-9. PubMed ID: 9914528
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome.
    Mancuso M; Filosto M; Mootha VK; Rocchi A; Pistolesi S; Murri L; DiMauro S; Siciliano G
    Neurology; 2004 Jun; 62(11):2119-21. PubMed ID: 15184630
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Fibrous dysplasia in a child with mitochondrial A8344G mutation.
    Chen ST; Fan PC; Hwu WL; Wu MH
    J Child Neurol; 2008 Dec; 23(12):1447-50. PubMed ID: 18772492
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Myoclonus epilepsy in mitochondrial disorders.
    Lamperti C; Zeviani M
    Epileptic Disord; 2016 Sep; 18(S2):94-102. PubMed ID: 27618766
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model.
    Lo CM; Ma YS; Wei YH; Hsieh BYT; Hsieh M
    Arch Biochem Biophys; 2018 Mar; 641():50-61. PubMed ID: 29407793
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Intracellular cholesterol accumulation and coenzyme Q
    Suárez-Rivero JM; de la Mata M; Pavón AD; Villanueva-Paz M; Povea-Cabello S; Cotán D; Álvarez-Córdoba M; Villalón-García I; Ybot-González P; Salas JJ; Muñiz O; Cordero MD; Sánchez-Alcázar JA
    Biochim Biophys Acta Mol Basis Dis; 2018 Dec; 1864(12):3697-3713. PubMed ID: 30292637
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome.
    Wu YT; Hsu YH; Huang CY; Ho MC; Cheng YC; Wen CH; Ko HW; Lu HE; Chen YC; Tsai CL; Hsu YC; Wei YH; Hsieh PCH
    Stem Cell Res; 2018 Mar; 27():10-14. PubMed ID: 29288969
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].
    Hou Y; Zhao XT; Xie ZY; Yuan Y; Wang ZX
    Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):851-855. PubMed ID: 33047718
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.
    Fang W; Huang CC; Chu NS; Lee CC; Chen RS; Pang CY; Shih KD; Wei YH
    Muscle Nerve; 1994 Jan; 17(1):52-7. PubMed ID: 8264702
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.
    Chomyn A; Lai ST; Shakeley R; Bresolin N; Scarlato G; Attardi G
    Am J Hum Genet; 1994 Jun; 54(6):966-74. PubMed ID: 8198140
    [TBL] [Abstract][Full Text] [Related]  

  • 39. MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).
    Hahn A; Schänzer A; Neubauer BA; Gizewski E; Ahting U; Rolinski B
    Neuropediatrics; 2011 Aug; 42(4):148-51. PubMed ID: 21766266
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.
    Monden Y; Mori M; Kuwajima M; Goto T; Yamagata T; Momoi MY
    Brain Dev; 2013 Jun; 35(6):582-5. PubMed ID: 22981260
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.