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Journal Abstract Search

216 related items for PubMed ID: 33559790

  • 1. 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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  • 4. 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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  • 5. 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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  • 6. A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
    Zeng H, Tang JG, Yang YF, Tan ZP, Tan JQ.
    Cytogenet Genome Res; 2017 Jan 04; 152(1):16-21. PubMed ID: 28658676
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  • 7. 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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  • 8. 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 01; 75(6):339-344. PubMed ID: 28658401
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  • 9. 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 01; 40(1):61-6. PubMed ID: 23250129
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  • 10. 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 01; 71():102211. PubMed ID: 36126381
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  • 11. [Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
    Li S, Chen Y, Yuan X, Wei Q, Ou R, Gu X, Shang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug 10; 35(4):507-510. PubMed ID: 30098244
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  • 12. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.
    Parkinsonism Relat Disord; 2011 Jul 10; 17(6):418-22. PubMed ID: 21450511
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  • 13. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene.
    Srikajon J, Pitakpatapee Y, Limwongse C, Chirapapaisan N, Srivanitchapoom P.
    Tremor Other Hyperkinet Mov (N Y); 2020 Jun 08; 10():1. PubMed ID: 32775015
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  • 14. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.
    Xiromerisiou G, Dadouli K, Marogianni C, Provatas A, Ntellas P, Rikos D, Stathis P, Georgouli D, Loules G, Zamanakou M, Hadjigeorgiou GM.
    J Mol Neurosci; 2020 Jan 08; 70(1):131-141. PubMed ID: 31701440
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  • 15. 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 Jan 08; 51(16):2221-6. PubMed ID: 22892508
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  • 18. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.
    PLoS One; 2013 Jan 08; 8(6):e66145. PubMed ID: 23785480
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  • 19. 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 08; 78(6):871-86. PubMed ID: 26288984
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