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186 related items for PubMed ID: 21597885

  • 1. Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Desserre J, Devos D, Sautière BG, Debruyne P, Santorelli FM, Vuillaume I, Defoort-Dhellemmes S.
    Cerebellum; 2011 Dec; 10(4):758-62. PubMed ID: 21597885
    [Abstract] [Full Text] [Related]

  • 2. Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Vingolo EM, Di Fabio R, Salvatore S, Grieco G, Bertini E, Leuzzi V, Nesti C, Filla A, Tessa A, Pierelli F, Santorelli FM, Casali C.
    Eur J Neurol; 2011 Sep; 18(9):1187-90. PubMed ID: 21410841
    [Abstract] [Full Text] [Related]

  • 3. Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F, Giunti P.
    Brain; 2018 Apr 01; 141(4):989-999. PubMed ID: 29538656
    [Abstract] [Full Text] [Related]

  • 4. Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Leavitt JA, Singer W, Brown WL, Pulido JS, Brodsky MC.
    J Neuroophthalmol; 2014 Dec 01; 34(4):369-71. PubMed ID: 25237835
    [Abstract] [Full Text] [Related]

  • 5. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.
    Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.
    Parkinsonism Relat Disord; 2019 May 01; 62():148-155. PubMed ID: 30638817
    [Abstract] [Full Text] [Related]

  • 6. Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Shah CT, Ward TS, Matsumoto JA, Shildkrot Y.
    J AAPOS; 2016 Feb 01; 20(1):81-3. PubMed ID: 26917082
    [Abstract] [Full Text] [Related]

  • 7. Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.
    Pablo LE, Garcia-Martin E, Gazulla J, Larrosa JM, Ferreras A, Santorelli FM, Benavente I, Vela A, Marin MA.
    Mol Vis; 2011 Feb 01; 17():1871-6. PubMed ID: 21850161
    [Abstract] [Full Text] [Related]

  • 8. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Feb 01; 6(4):353-9. PubMed ID: 17853117
    [Abstract] [Full Text] [Related]

  • 9. Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
    Rezende Filho FM, Bremner F, Pedroso JL, de Andrade JBC, Marianelli BF, Lourenço CM, Marques-Júnior W, França MC, Kok F, Sallum JMF, Parkinson MH, Barsottini OG, Giunti P.
    Mov Disord; 2021 Sep 01; 36(9):2027-2035. PubMed ID: 33893680
    [Abstract] [Full Text] [Related]

  • 10. Retinal nerve fiber layer thickening in ARSACS carriers.
    van Lint M, Hoornaert K, Ten Tusscher MPM.
    J Neurol Sci; 2016 Nov 15; 370():119-122. PubMed ID: 27772739
    [Abstract] [Full Text] [Related]

  • 11. Retinal segmentation as noninvasive technique to demonstrate hyperplasia in ataxia of Charlevoix-Saguenay.
    Garcia-Martin E, Pablo LE, Gazulla J, Vela A, Larrosa JM, Polo V, Marques ML, Alfaro J.
    Invest Ophthalmol Vis Sci; 2013 Oct 29; 54(10):7137-42. PubMed ID: 24114536
    [Abstract] [Full Text] [Related]

  • 12. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
    Pedroso JL, Braga-Neto P, Abrahão A, Rivero RL, Abdalla C, Abdala N, Barsottini OG.
    Arq Neuropsiquiatr; 2011 Oct 29; 69(2B):288-91. PubMed ID: 21625752
    [Abstract] [Full Text] [Related]

  • 13. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.
    Bagaria J, Bagyinszky E, An SSA.
    Int J Mol Sci; 2022 Jan 04; 23(1):. PubMed ID: 35008978
    [Abstract] [Full Text] [Related]

  • 14. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
    Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
    Intern Med; 2021 Dec 15; 60(24):3963-3967. PubMed ID: 34121011
    [Abstract] [Full Text] [Related]

  • 15. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.
    Burguêz D, Oliveira CM, Rockenbach MABC, Fussiger H, Vedolin LM, Winckler PB, Maestri MK, Finkelsztejn A, Santorelli FM, Jardim LB, Saute JAM.
    Arq Neuropsiquiatr; 2017 Jun 15; 75(6):339-344. PubMed ID: 28658401
    [Abstract] [Full Text] [Related]

  • 16. Clinical and molecular studies in two new cases of ARSACS.
    Ricca I, Morani F, Bacci GM, Nesti C, Caputo R, Tessa A, Santorelli FM.
    Neurogenetics; 2019 Mar 15; 20(1):45-49. PubMed ID: 30680480
    [Abstract] [Full Text] [Related]

  • 17. Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Borruat FX, Holder GE, Bremner F.
    Front Neurol; 2017 Mar 15; 8():523. PubMed ID: 29075231
    [Abstract] [Full Text] [Related]

  • 18. [Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].
    Garcia-Martin E, Bambo MP, Gazulla J, Larrosa JM, Polo V, Fuertes MI, Fuentes JL, Ferreras A, Pablo LE.
    Arch Soc Esp Oftalmol; 2014 May 15; 89(5):207-11. PubMed ID: 24269465
    [Abstract] [Full Text] [Related]

  • 19. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
    Krygier M, Konkel A, Schinwelski M, Rydzanicz M, Walczak A, Sildatke-Bauer M, Płoski R, Sławek J.
    Neurol Neurochir Pol; 2017 May 15; 51(6):481-485. PubMed ID: 28843771
    [Abstract] [Full Text] [Related]

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