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Journal Abstract Search

609 related items for PubMed ID: 28658676

  • 1. 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; 152(1):16-21. PubMed ID: 28658676
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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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  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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 Jun 01; 51(16):2221-6. PubMed ID: 22892508
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 20(11):1486-91. PubMed ID: 23800155
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. [Analysis of SACS mutation in a family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay].
    Zhang Q, Li H, Chen C, Luan Z, Xu X, Tang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar 10; 36(3):217-220. PubMed ID: 30835349
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  • 15. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 78(6):871-86. PubMed ID: 26288984
    [Abstract] [Full Text] [Related]

  • 17. Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.
    Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF.
    J Neurogenet; 2013 Dec 15; 27(4):176-82. PubMed ID: 24180463
    [Abstract] [Full Text] [Related]

  • 18. A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patient.
    Liu L, Li XB, Zi XH, Shen L, Hu ZhM, Huang ShX, Yu DL, Li HB, Xia K, Tang BS, Zhang RX.
    J Neurol Sci; 2016 Mar 15; 362():111-4. PubMed ID: 26944128
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 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 13; 124(2):475-484. PubMed ID: 37898963
    [Abstract] [Full Text] [Related]

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