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Journal Abstract Search

226 related items for PubMed ID: 27871429

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  • 3. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
    Prodi E, Grisoli M, Panzeri M, Minati L, Fattori F, Erbetta A, Uziel G, D'Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C.
    Eur J Neurol; 2013 Jan; 20(1):138-46. PubMed ID: 22816526
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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 Jan; 51(6):481-485. PubMed ID: 28843771
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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; 18(4):807-812. PubMed ID: 30963395
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  • 6. Mutations in SACS cause atypical and late-onset forms of ARSACS.
    Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P.
    Neurology; 2010 Sep 28; 75(13):1181-8. PubMed ID: 20876471
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  • 8. 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 Sep 28; 51(16):2221-6. PubMed ID: 22892508
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  • 9. 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 28; 20(11):1486-91. PubMed ID: 23800155
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  • 10. 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 28; 75(6):339-344. PubMed ID: 28658401
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  • 12. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
    Richter AM, Ozgul RK, Poisson VC, Topaloglu H.
    Neurogenetics; 2004 Sep 28; 5(3):165-70. PubMed ID: 15156359
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  • 13. ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
    Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B.
    Neurogenetics; 2008 Jul 28; 9(3):207-14. PubMed ID: 18465152
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  • 14. 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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  • 18. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
    Takiyama Y.
    Neuropathology; 2006 Aug 13; 26(4):368-75. PubMed ID: 16961075
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  • 19. A novel mutation in SACS gene in a family from southern Italy.
    Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G, Filla A.
    Neurology; 2004 Jan 13; 62(1):100-2. PubMed ID: 14718706
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  • 20. 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 13; 70(1):131-141. PubMed ID: 31701440
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