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Journal Abstract Search

296 related items for PubMed ID: 23800155

  • 1. A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
    Gregianin E, Vazza G, Scaramel E, Boaretto F, Vettori A, Leonardi E, Tosatto SC, Manara R, Pegoraro E, Mostacciuolo ML.
    Eur J Neurol; 2013 Nov; 20(11):1486-91. PubMed ID: 23800155
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  • 2. 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 Nov; 152(1):16-21. PubMed ID: 28658676
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  • 3. 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 Nov; 51(16):2221-6. PubMed ID: 22892508
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  • 4. 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; 51(6):481-485. PubMed ID: 28843771
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  • 5. 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; 75(6):339-344. PubMed ID: 28658401
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  • 6. 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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  • 7. 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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  • 10. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
    Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM.
    Neurology; 2004 Jan 13; 62(1):103-6. PubMed ID: 14718707
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  • 12. 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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  • 13. Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.
    Anesi L, de Gemmis P, Pandolfo M, Hladnik U.
    J Mol Neurosci; 2011 Mar 04; 43(3):346-9. PubMed ID: 20852969
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  • 14. 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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  • 15. 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 15; 70(1):131-141. PubMed ID: 31701440
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  • 18. 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 15; 78(6):871-86. PubMed ID: 26288984
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  • 19. 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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  • 20. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.
    Divya KP, Cherian A, Dhing HK, Kumar S, Thomas B, Faruq M.
    Acta Neurol Belg; 2024 Apr 01; 124(2):475-484. PubMed ID: 37898963
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