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 *

204 related articles for article (PubMed ID: 22805437)

  • 1. Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.
    Bostan A; Glibert G; Dachy B; Dan B
    Auton Neurosci; 2012 Sep; 170(1-2):70-2. PubMed ID: 22805437
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
    Weiss MD; Saneto RP
    Muscle Nerve; 2010 Jun; 41(6):882-5. PubMed ID: 20513108
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
    Milone M; Brunetti-Pierri N; Tang LY; Kumar N; Mezei MM; Josephs K; Powell S; Simpson E; Wong LJ
    Neuromuscul Disord; 2008 Aug; 18(8):626-32. PubMed ID: 18585914
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
    Posada IJ; Gallardo ME; Domínguez C; Rivera H; Cabello A; Arenas J; Martín MA; Garesse R; Bornstein B
    Med Clin (Barc); 2010 Oct; 135(10):452-5. PubMed ID: 20576279
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.
    Lam CW; Law CY; Siu WK; Fung CW; Yau MM; Huen KF; Lee HH; Mak CM
    Clin Chim Acta; 2015 Aug; 448():211-4. PubMed ID: 26169155
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
    Habek M; Barun B; Adamec I; Mitrović Z; Ozretić D; Brinar VV
    Neurologist; 2012 Sep; 18(5):287-9. PubMed ID: 22931735
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
    McHugh JC; Lonergan R; Howley R; O'Rourke K; Taylor RW; Farrell M; Hutchinson M; Connolly S
    Muscle Nerve; 2010 Feb; 41(2):265-9. PubMed ID: 19813183
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
    Van Goethem G; Martin JJ; Dermaut B; Löfgren A; Wibail A; Ververken D; Tack P; Dehaene I; Van Zandijcke M; Moonen M; Ceuterick C; De Jonghe P; Van Broeckhoven C
    Neuromuscul Disord; 2003 Feb; 13(2):133-42. PubMed ID: 12565911
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SANDO: two novel mutations in POLG1 gene.
    Gago MF; Rosas MJ; Guimarães J; Ferreira M; Vilarinho L; Castro L; Carpenter S
    Neuromuscul Disord; 2006 Aug; 16(8):507-9. PubMed ID: 16919951
    [TBL] [Abstract][Full Text] [Related]  

  • 10. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
    Van Goethem G; Luoma P; Rantamäki M; Al Memar A; Kaakkola S; Hackman P; Krahe R; Löfgren A; Martin JJ; De Jonghe P; Suomalainen A; Udd B; Van Broeckhoven C
    Neurology; 2004 Oct; 63(7):1251-7. PubMed ID: 15477547
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
    Tang S; Wang J; Lee NC; Milone M; Halberg MC; Schmitt ES; Craigen WJ; Zhang W; Wong LJ
    J Med Genet; 2011 Oct; 48(10):669-81. PubMed ID: 21880868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.
    Pineda M; Solano A; Artuch R; Andreu AL; Playan A; Vilaseca MA; Colomer J; Briones P; Casademont J; Montoya J
    Pediatr Res; 2004 Jul; 56(1):55-9. PubMed ID: 15128915
    [TBL] [Abstract][Full Text] [Related]  

  • 13. POLG mutations in Australian patients with mitochondrial disease.
    Woodbridge P; Liang C; Davis RL; Vandebona H; Sue CM
    Intern Med J; 2013 Feb; 43(2):150-6. PubMed ID: 22647225
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.
    Parada-Garza JD; López-Valencia G; Miranda-García LA; Pérez-García G; Ruiz-Sandoval JL
    Neuromuscul Disord; 2020 Jul; 30(7):590-592. PubMed ID: 32600829
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [SANDO (sensory ataxic neuropathy, dysarthria, and ophthalmoplegia)].
    Goto Y
    Ryoikibetsu Shokogun Shirizu; 2001; (36):172. PubMed ID: 11596360
    [No Abstract]   [Full Text] [Related]  

  • 16. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
    Schulte C; Synofzik M; Gasser T; Schöls L
    Neurology; 2009 Sep; 73(11):898-900. PubMed ID: 19752458
    [No Abstract]   [Full Text] [Related]  

  • 17. Consequences of mutations in human DNA polymerase gamma.
    Longley MJ; Graziewicz MA; Bienstock RJ; Copeland WC
    Gene; 2005 Jul; 354():125-31. PubMed ID: 15913923
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
    Luoma PT; Luo N; Löscher WN; Farr CL; Horvath R; Wanschitz J; Kiechl S; Kaguni LS; Suomalainen A
    Hum Mol Genet; 2005 Jul; 14(14):1907-20. PubMed ID: 15917273
    [TBL] [Abstract][Full Text] [Related]  

  • 19. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Neeve VC; Samuels DC; Bindoff LA; van den Bosch B; Van Goethem G; Smeets H; Lombès A; Jardel C; Hirano M; Dimauro S; De Vries M; Smeitink J; Smits BW; de Coo IF; Saft C; Klopstock T; Keiling BC; Czermin B; Abicht A; Lochmüller H; Hudson G; Gorman GG; Turnbull DM; Taylor RW; Holinski-Feder E; Chinnery PF; Horvath R
    Brain; 2012 Dec; 135(Pt 12):3614-26. PubMed ID: 23250882
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
    Mancuso M; Filosto M; Oh SJ; DiMauro S
    Arch Neurol; 2004 Nov; 61(11):1777-9. PubMed ID: 15534189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.