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 *

147 related articles for article (PubMed ID: 33791913)

  • 1. Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
    Li LX; Jiang LT; Pan YG; Zhang XL; Pan LZ; Nie ZY; Chen YH; Jin LJ
    J Mol Neurosci; 2021 Dec; 71(12):2462-2467. PubMed ID: 33791913
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
    Hanisch F; Kornhuber M; Alston CL; Taylor RW; Deschauer M; Zierz S
    J Neurol Neurosurg Psychiatry; 2015 Jun; 86(6):630-4. PubMed ID: 25143630
    [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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
    Gáti I; Danielsson O; Jonasson J; Landtblom AM
    Acta Myol; 2011 Dec; 30(3):188-90. PubMed ID: 22616202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
    Bandettini di Poggio M; Nesti C; Bruno C; Meschini MC; Schenone A; Santorelli FM
    BMC Med Genet; 2013 Oct; 14():105. PubMed ID: 24099403
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. MELAS/SANDO overlap syndrome associated with POLG1 mutations.
    Hansen N; Zwarg T; Wanke I; Zierz S; Kastrup O; Deschauer M
    Neurol Sci; 2012 Feb; 33(1):209-12. PubMed ID: 21647632
    [No Abstract]   [Full Text] [Related]  

  • 12. [A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions].
    Tanaka K; Tateishi T; Kawamura N; Ohyagi Y; Urata M; Kira J
    Rinsho Shinkeigaku; 2013; 53(3):205-11. PubMed ID: 23524600
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. Sensory motor ataxic neuropathy associated dysarthria and ophthalmoplegia "SMANDO" in a consanguineous Moroccan patient with new POLG gene homozygote mutation.
    Rafai MA; Khattab H; Jardel C; Slassi I; Dehbi H; Bouche P
    Rev Neurol (Paris); 2021; 177(1-2):144-146. PubMed ID: 32650990
    [No Abstract]   [Full Text] [Related]  

  • 15. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease.
    Fadic R; Russell JA; Vedanarayanan VV; Lehar M; Kuncl RW; Johns DR
    Neurology; 1997 Jul; 49(1):239-45. PubMed ID: 9222196
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
    Rajakulendran S; Pitceathly RD; Taanman JW; Costello H; Sweeney MG; Woodward CE; Jaunmuktane Z; Holton JL; Jacques TS; Harding BN; Fratter C; Hanna MG; Rahman S
    PLoS One; 2016; 11(1):e0145500. PubMed ID: 26735972
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype.
    Richter JE; Robles HG; Mauricio E; Mohammad A; Atwal PS; Caulfield TR
    Hum Genome Var; 2018; 5():18016. PubMed ID: 29644085
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Y831C Mutation of the
    Borgione E; Lo Giudice M; Santa Paola S; Giuliano M; Lanza G; Cantone M; Ferri R; Scuderi C
    Biomedicines; 2023 Apr; 11(4):. PubMed ID: 37189790
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rod bipolar cell dysfunction in POLG retinopathy.
    Sanderson KG; Millar E; Tumber A; Klatt R; Sondheimer N; Vincent A
    Doc Ophthalmol; 2021 Feb; 142(1):111-118. PubMed ID: 32567010
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.