BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 25439498)

  • 1. Symmetric thalamic lesions in a patient with a myoclonic epilepsy with ragged red fibers-Leigh spectrum phenotype due to the m.A8344G mutation.
    Yang H; Lu Q; Cui L
    Pediatr Neurol; 2014 Dec; 51(6):e19-20. PubMed ID: 25439498
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. [Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].
    Zhao J; Zhao DH; Zhang W; Lü H; Yuan Y; Qi Y; Wang ZX
    Zhonghua Yi Xue Za Zhi; 2012 Oct; 92(40):2835-8. PubMed ID: 23290212
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.
    Santorelli FM; Tanji K; Shanske S; Krishna S; Schmidt RE; Greenwood RS; DiMauro S; De Vivo DC
    Ann Neurol; 1998 Dec; 44(6):962-4. PubMed ID: 9851442
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epileptic phenotypes associated with mitochondrial disorders.
    Canafoglia L; Franceschetti S; Antozzi C; Carrara F; Farina L; Granata T; Lamantea E; Savoiardo M; Uziel G; Villani F; Zeviani M; Avanzini G
    Neurology; 2001 May; 56(10):1340-6. PubMed ID: 11376185
    [TBL] [Abstract][Full Text] [Related]  

  • 6. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
    Shtilbans A; Shanske S; Goodman S; Sue CM; Bruno C; Johnson TL; Lava NS; Waheed N; DiMauro S
    J Child Neurol; 2000 Nov; 15(11):759-61. PubMed ID: 11108511
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
    Mancuso M; Petrozzi L; Filosto M; Nesti C; Rocchi A; Choub A; Pistolesi S; Massetani R; Fontanini G; Siciliano G
    Biochem Biophys Res Commun; 2007 Mar; 354(4):1058-60. PubMed ID: 17275787
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.
    Orcesi S; Gorni K; Termine C; Uggetti C; Veggiotti P; Carrara F; Zeviani M; Berardinelli A; Lanzi G
    J Child Neurol; 2006 Jan; 21(1):79-82. PubMed ID: 16551460
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
    Horvath R; Kley RA; Lochmüller H; Vorgerd M
    Neurology; 2007 Jan; 68(1):56-8. PubMed ID: 17200493
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.
    Nikam R; Kandula AR; Schenker K
    Neurology; 2020 May; 94(20):e2187-e2188. PubMed ID: 32327493
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical features and genetics of myoclonic epilepsy with ragged red fibers.
    DiMauro S; Hirano M; Kaufmann P; Tanji K; Sano M; Shungu DC; Bonilla E; DeVivo DC
    Adv Neurol; 2002; 89():217-29. PubMed ID: 11968448
    [No Abstract]   [Full Text] [Related]  

  • 14. Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.
    De la Mata M; Garrido-Maraver J; Cotán D; Cordero MD; Oropesa-Ávila M; Izquierdo LG; De Miguel M; Lorite JB; Infante ER; Ybot P; Jackson S; Sánchez-Alcázar JA
    Neurotherapeutics; 2012 Apr; 9(2):446-63. PubMed ID: 22354625
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
    Tsao CY; Herman G; Boué DR; Prior TW; Lo WD; Atkin JF; Rusin J
    J Child Neurol; 2003 Jan; 18(1):62-4. PubMed ID: 12661941
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.
    Sitburana O; Witoonpanich R; Phudhichareonrat S; Lertrit P; Supavilai R
    J Med Assoc Thai; 2001 Jul; 84(7):1051-5. PubMed ID: 11759966
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.
    Swiderska N; Appleton R; Morris A; Isherwood D; Selby A
    J Child Neurol; 2010 Jun; 25(6):782-5. PubMed ID: 20332385
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.
    Ozawa M; Nishino I; Horai S; Nonaka I; Goto YI
    Muscle Nerve; 1997 Mar; 20(3):271-8. PubMed ID: 9052804
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation.
    Shen C; Xian W; Zhou H; Li X; Liang X; Chen L
    Front Neurol; 2018; 9():724. PubMed ID: 30271374
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypersensitivity of A8344G MERRF mutated cybrid cells to staurosporine-induced cell death is mediated by calcium-dependent activation of calpains.
    Rommelaere G; Michel S; Malaisse J; Charlier S; Arnould T; Renard P
    Int J Biochem Cell Biol; 2012 Jan; 44(1):139-49. PubMed ID: 22037425
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.