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Journal Abstract Search

397 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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  • 8. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
    Intern Med; 2013 Feb 15; 52(14):1629-33. PubMed ID: 23857099
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  • 9. 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. SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
    Pedroso JL, de Souza PV, Pinto WB, Braga-Neto P, Albuquerque MV, Saraiva-Pereira ML, Jardim LB, Barsottini OG.
    Parkinsonism Relat Disord; 2015 Oct 15; 21(10):1243-6. PubMed ID: 26231471
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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 15; 62(12):103605. PubMed ID: 30572172
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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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