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Journal Abstract Search

253 related items for PubMed ID: 30098244

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  • 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
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  • 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
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  • 5. 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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  • 6. 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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  • 10. 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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  • 13. 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 Dec 15; 8(6):e66145. PubMed ID: 23785480
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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 Dec 15; 51(16):2221-6. PubMed ID: 22892508
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  • 17. 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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  • 18. 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 15; 20(11):1486-91. PubMed ID: 23800155
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  • 19. 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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  • 20. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.
    Bouhlal Y, Amouri R, El Euch-Fayeche G, Hentati F.
    Parkinsonism Relat Disord; 2011 Jul 15; 17(6):418-22. PubMed ID: 21450511
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