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Journal Abstract Search

159 related items for PubMed ID: 24269465

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  • 2. 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; 17():1871-6. PubMed ID: 21850161
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  • 4. 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
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  • 5. 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 01; 18(9):1187-90. PubMed ID: 21410841
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  • 6. 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
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  • 7. 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
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  • 9. 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
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  • 10. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
    Narayanan V, Rice SG, Olfers SS, Sivakumar K.
    J Child Neurol; 2011 Dec 15; 26(12):1585-9. PubMed ID: 21745802
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  • 13. 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 15; 62():148-155. PubMed ID: 30638817
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  • 15. 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 15; 10(4):758-62. PubMed ID: 21597885
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