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Journal Abstract Search

165 related items for PubMed ID: 24384335

  • 1.
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  • 2. Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient.
    Kurt S, Kartal E, Aksoy D, Cevik B, Eken AG, Sahbaz I, Nazli Basak A.
    J Neurol Sci; 2015 Oct 15; 357(1-2):290-1. PubMed ID: 26142023
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  • 4. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
    Duquette A, Brais B, Bouchard JP, Mathieu J.
    Mov Disord; 2013 Dec 15; 28(14):2011-4. PubMed ID: 23913799
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  • 6. Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Shah CT, Ward TS, Matsumoto JA, Shildkrot Y.
    J AAPOS; 2016 Feb 15; 20(1):81-3. PubMed ID: 26917082
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  • 7. 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 Feb 15; 51(6):481-485. PubMed ID: 28843771
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  • 8. 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 15; 34(4):369-71. PubMed ID: 25237835
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  • 10. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Briand MM, Rodrigue X, Lessard I, Mathieu J, Brais B, Côté I, Gagnon C.
    J Neurol Sci; 2019 May 15; 400():39-41. PubMed ID: 30901567
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  • 11. MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
    Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D, PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S.
    Mov Disord; 2024 Aug 15; 39(8):1343-1351. PubMed ID: 38847051
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  • 12. [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
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  • 13. Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS).
    Dziewulska D.
    Folia Neuropathol; 2020 May 15; 58(2):94-99. PubMed ID: 32729297
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  • 15. 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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  • 16. Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs.
    Verhoeven WM, Egger JI, Ahmed AI, Kremer BP, Vermeer S, van de Warrenburg BP.
    Psychopathology; 2012 May 15; 45(3):193-9. PubMed ID: 22441213
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  • 18. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
    Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.
    J Neurol Neurosurg Psychiatry; 2008 Feb 15; 79(2):205-8. PubMed ID: 17698502
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  • 19. Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Chamova T, Ivanova N, Cherninkova S, Koleva M, Zlatareva D, Bojinova V, Mihova K, Georgiev M, Ferdinandov D, Bichev S, Kaneva R, Mitev V, Jordanova A, Tournev I.
    Mol Genet Genomic Med; 2024 Jul 15; 12(7):e2483. PubMed ID: 39044368
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  • 20. 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
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