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Journal Abstract Search

371 related items for PubMed ID: 28843771

  • 1. 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; 51(6):481-485. PubMed ID: 28843771
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  • 7. 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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  • 12. Diversity of ARSACS mutations in French-Canadians.
    Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.
    Can J Neurol Sci; 2013 Jan; 40(1):61-6. PubMed ID: 23250129
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  • 13. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
    Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.
    Orphanet J Rare Dis; 2013 Mar 15; 8():41. PubMed ID: 23497566
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  • 14. 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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  • 15. Is the ataxia of Charlevoix-Saguenay a developmental disease?
    Gazulla J, Vela AC, Marín MA, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintoré M, Berciano J.
    Med Hypotheses; 2011 Sep 15; 77(3):347-52. PubMed ID: 21665375
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  • 17. 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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  • 18. 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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  • 19. ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
    Kuchay RAH, Mir YR, Zeng X, Hassan A, Musarrat J, Parwez I, Kernstock C, Traschütz A, Synofzik M.
    Cerebellum; 2019 Aug 01; 18(4):807-812. PubMed ID: 30963395
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  • 20. Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M.
    Clin Neurol Neurosurg; 2012 Jul 01; 114(6):746-7. PubMed ID: 22209141
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