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Journal Abstract Search

398 related items for PubMed ID: 31865189

  • 1. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
    de Freitas JL, Rezende Filho FM, Sallum JMF, França MC, Pedroso JL, Barsottini OGP.
    J Neurol Sci; 2020 Feb 15; 409():116620. PubMed ID: 31865189
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  • 5. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
    Cerebellum; 2022 Dec 15; 21(6):1073-1084. PubMed ID: 34782953
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  • 11. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
    Seo Y, Lim HT, Lee BJ, Han J.
    Am J Med Genet A; 2023 Feb 15; 191(2):582-585. PubMed ID: 36367250
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  • 13. 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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  • 14. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
    Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.
    Eur J Med Genet; 2019 Dec 01; 62(12):103605. PubMed ID: 30572172
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  • 15. Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
    Bogdanova-Mihaylova P, Chen H, Plapp HM, Gorman C, Alexander MD, McHugh JC, Moran S, Early A, Cassidy L, Lynch T, Murphy SM, Walsh RA.
    J Neurol; 2021 Oct 01; 268(10):3897-3907. PubMed ID: 33774748
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  • 16. 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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  • 17. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
    Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK.
    Clin Genet; 2019 Sep 01; 96(3):271-273. PubMed ID: 31286494
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  • 18. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
    Sahin T, Karaarslan FT, Yilmaz R, Tekgül Ş, Başak AN, Akbostanci MC.
    Clin Neurol Neurosurg; 2021 Feb 01; 201():106423. PubMed ID: 33348119
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  • 19. POLR3A variants in hereditary spastic paraplegia and ataxia.
    Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.
    Brain; 2018 Jan 01; 141(1):e1. PubMed ID: 29228109
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  • 20. 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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