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Journal Abstract Search

173 related items for PubMed ID: 36126381

  • 1. Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
    Aly KA, Moutaoufik MT, Zilocchi M, Phanse S, Babu M.
    Curr Opin Chem Biol; 2022 Dec; 71():102211. PubMed ID: 36126381
    [Abstract] [Full Text] [Related]

  • 2. Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.
    Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B, Durham HD.
    FASEB J; 2019 Feb; 33(2):2982-2994. PubMed ID: 30332300
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  • 4. 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; 42(7):2969-2973. PubMed ID: 33559790
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  • 5. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
    Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS.
    Proc Natl Acad Sci U S A; 2012 Jan 31; 109(5):1661-6. PubMed ID: 22307627
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  • 6. Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B.
    Hum Mol Genet; 2015 Feb 01; 24(3):727-39. PubMed ID: 25260547
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  • 7. 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
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  • 8. 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 Nov 15; 51(6):481-485. PubMed ID: 28843771
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  • 10. [Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].
    Fu R, Ding M, Lu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan 10; 40(1):121-124. PubMed ID: 36585015
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  • 12. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.
    Aida I, Ozawa T, Fujinaka H, Goto K, Ohta K, Nakajima T.
    Intern Med; 2021 Dec 15; 60(24):3963-3967. PubMed ID: 34121011
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  • 14. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families.
    Wang Z, Song Y, Wang X, Li X, Xu F, Si L, Dong Y, Yao T, Zhu J, Lai H, Li W, Lin F, Huang H, Wang C.
    Neurosci Lett; 2021 May 01; 752():135831. PubMed ID: 33746006
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  • 16. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.
    Ann Neurol; 2015 Dec 01; 78(6):871-86. PubMed ID: 26288984
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  • 17. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.
    Longo F, De Ritis D, Miluzio A, Fraticelli D, Baets J, Scarlato M, Santorelli FM, Biffo S, Maltecca F.
    Neurology; 2021 Dec 07; 97(23):e2315-e2327. PubMed ID: 34649874
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  • 19. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.
    Parkinsonism Relat Disord; 2011 Jul 07; 17(6):418-22. PubMed ID: 21450511
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  • 20. Sacsinopathies: sacsin-related ataxia.
    Takiyama Y.
    Cerebellum; 2007 Jul 07; 6(4):353-9. PubMed ID: 17853117
    [Abstract] [Full Text] [Related]

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