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 *

83 related articles for article (PubMed ID: 22925535)

  • 1. Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.
    Cardaioli E; Malfatti E; Battisti C; Da Pozzo P; Rubegni A; Gallus GN; Malandrini A; Federico A
    J Neurol Sci; 2012 Oct; 321(1-2):92-5. PubMed ID: 22925535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy.
    Jeppesen TD; Duno M; Risom L; Wibrand F; Rafiq J; Krag T; Jakobsen J; Andersen H; Vissing J
    Neuromuscul Disord; 2014 Feb; 24(2):162-6. PubMed ID: 24161205
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M; Lindberg C; Moslemi AR; Oldfors A; Holme E
    Hum Mutat; 1999; 13(3):203-9. PubMed ID: 10090475
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
    Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; Oexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG
    Nat Genet; 1999 Oct; 23(2):208-12. PubMed ID: 10508519
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
    Rossmanith W; Raffelsberger T; Roka J; Kornek B; Feucht M; Bittner RE
    Ann Neurol; 2003 Dec; 54(6):820-3. PubMed ID: 14681892
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA
    Gill JS; Hardy SA; Blakely EL; Hopton S; Nemeth AH; Fratter C; Poulton J; Taylor RW; Downes SM
    Br J Ophthalmol; 2017 Sep; 101(9):1298-1302. PubMed ID: 28729369
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
    Menotti F; Brega A; Diegoli M; Grasso M; Modena MG; Arbustini E
    Ital Heart J; 2004 Jun; 5(6):460-5. PubMed ID: 15320572
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.
    Bidooki S; Jackson MJ; Johnson MA; Chrzanowska-Lightowlers ZM; Taylor RW; Venables G; Lightowlers RN; Turnbull DM; Bindoff LA
    Neuromuscul Disord; 2004 Jul; 14(7):417-20. PubMed ID: 15210164
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
    Araújo-Vilar D; Lado-Abeal J; Palos-Paz F; Lattanzi G; Bandín MA; Bellido D; Domínguez-Gerpe L; Calvo C; Pérez O; Ramazanova A; Martínez-Sánchez N; Victoria B; Costa-Freitas AT
    Clin Endocrinol (Oxf); 2008 Jul; 69(1):61-8. PubMed ID: 18031308
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.
    Maeso E; Rueda A; Jiménez S; Del Hoyo P; Martín R; Cabello A; Mendoza LM; Arenas J; Campos Y
    Neuromuscul Disord; 2007 May; 17(5):415-8. PubMed ID: 17363246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
    Gambello MJ; Bai RK; Chen TJ; Dimachkie M; Wong LJ
    Muscle Nerve; 2006 Oct; 34(4):437-43. PubMed ID: 16810691
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
    Chamkha I; Mkaouar-Rebai E; Aloulou H; Chabchoub I; Kifagi C; Fendri-Kriaa N; Kammoun T; Hachicha M; Fakhfakh F
    Biochem Biophys Res Commun; 2011 Jan; 404(1):504-10. PubMed ID: 21144833
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
    Horváth R; Schoser BG; Müller-Höcker J; Völpel M; Jaksch M; Lochmüller H
    Neuromuscul Disord; 2005 Dec; 15(12):851-7. PubMed ID: 16288875
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.
    Müller T; Deschauer M; Neudecker S; Zierz S
    Acta Neuropathol; 2005 Oct; 110(4):426-30. PubMed ID: 16133542
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene.
    Akita Y; Koga Y; Iwanaga R; Wada N; Tsubone J; Fukuda S; Nakamura Y; Kato H
    Hum Mutat; 2000 Apr; 15(4):382. PubMed ID: 10737988
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss.
    Deschauer M; Neudecker S; Müller T; Gellerich FN; Zierz S
    Mol Genet Metab; 2000 Jul; 70(3):235-7. PubMed ID: 10924279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
    Tanji K; Gamez J; Cervera C; Mearin F; Ortega A; de la Torre J; Montoya J; Andreu AL; DiMauro S; Bonilla E
    Acta Neuropathol; 2003 Jan; 105(1):69-75. PubMed ID: 12471464
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.
    Scarpelli M; Carreño-Gago L; Russignan A; de Luna N; Carnicer-Cáceres C; Ariatti A; Verriello L; Devigili G; Tonin P; Garcia-Arumi E; Pinós T
    Neuromuscul Disord; 2018 Feb; 28(2):137-143. PubMed ID: 29174468
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
    Silvestri G; Santorelli FM; Shanske S; Whitley CB; Schimmenti LA; Smith SA; DiMauro S
    Hum Mutat; 1994; 3(1):37-43. PubMed ID: 7906985
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.