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Journal Abstract Search

295 related items for PubMed ID: 23913799

  • 21. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018; 155():191-203. PubMed ID: 29891058
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  • 22.
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  • 23. A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.
    Intern Med; 2012; 51(16):2221-6. PubMed ID: 22892508
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  • 24.
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  • 25. 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
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  • 26. Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Sánchez MG, Pérez JE, Pérez MR, Redondo AG.
    J Neurol Sci; 2015 Nov 15; 358(1-2):475-6. PubMed ID: 26344561
    [No Abstract] [Full Text] [Related]

  • 27. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.
    Orphanet J Rare Dis; 2018 Sep 19; 13(1):165. PubMed ID: 30231904
    [Abstract] [Full Text] [Related]

  • 28. Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
    Ashrafi MR, Mohammadi P, Tavasoli AR, Heidari M, Hosseinpour S, Rasulinejad M, Rohani M, Akbari MG, Malamiri RA, Badv RS, Fathi D, Dehnavi AZ, Savad S, Rabbani A, Synofzik M, Mahdieh N, Rezaei Z.
    Cerebellum; 2023 Aug 19; 22(4):640-650. PubMed ID: 35731353
    [Abstract] [Full Text] [Related]

  • 29. 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
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  • 30. Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures.
    Lessard I, Brais B, Côté I, Lavoie C, Synofzik M, Mathieu J, Gagnon C.
    J Neurol Sci; 2018 Jul 15; 390():4-9. PubMed ID: 29801904
    [Abstract] [Full Text] [Related]

  • 31. Development and validation of a disease severity index for ataxia of Charlevoix-Saguenay.
    Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J.
    Neurology; 2019 Oct 15; 93(16):e1543-e1549. PubMed ID: 31534027
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. 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 15; 36(9):2027-2035. PubMed ID: 33893680
    [Abstract] [Full Text] [Related]

  • 34. Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
    Ady V, Toscano-Márquez B, Nath M, Chang PK, Hui J, Cook A, Charron F, Larivière R, Brais B, McKinney RA, Watt AJ.
    J Physiol; 2018 Sep 15; 596(17):4253-4267. PubMed ID: 29928778
    [Abstract] [Full Text] [Related]

  • 35. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.
    Eur J Neurol; 2013 Jan 15; 20(1):138-46. PubMed ID: 22816526
    [Abstract] [Full Text] [Related]

  • 36. Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature.
    Gazulla J, Mayayo-Sinués E, Benavente I, Modrego PJ, Berciano J.
    Can J Neurol Sci; 2014 Jan 15; 41(1):37-41. PubMed ID: 24384335
    [Abstract] [Full Text] [Related]

  • 37. A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Samanci B, Gokalp EE, Bilgic B, Gurvit H, Artan S, Hanagasi HA.
    Neurol Sci; 2021 Jul 15; 42(7):2969-2973. PubMed ID: 33559790
    [Abstract] [Full Text] [Related]

  • 38. 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
    [Abstract] [Full Text] [Related]

  • 39. Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
    García A, Criscuolo C, de Michele G, Berciano J.
    Muscle Nerve; 2008 Jan 15; 37(1):107-10. PubMed ID: 17683082
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  • 40. Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS).
    Dziewulska D.
    Folia Neuropathol; 2020 Jan 15; 58(2):94-99. PubMed ID: 32729297
    [Abstract] [Full Text] [Related]

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