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Journal Abstract Search

168 related items for PubMed ID: 12849260

  • 1. Alexander disease: GFAP mutations unify young and old.
    Messing A, Brenner M.
    Lancet Neurol; 2003 Feb; 2(2):75. PubMed ID: 12849260
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  • 2. Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.
    Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T.
    Mov Disord; 2009 Jul 15; 24(9):1393-5. PubMed ID: 19412928
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  • 3. A novel GFAP mutation in a type II (late-onset) Alexander disease patient.
    de Paiva AR, Freua F, Lucato LT, Parmera J, Dória D, Nóbrega PR, Olávio TR, Macedo-Souza LI, Kok F.
    J Neurol; 2016 Apr 15; 263(4):821-2. PubMed ID: 26914930
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  • 5. Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.
    Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H.
    Brain Dev; 2019 Feb 15; 41(2):195-200. PubMed ID: 30213442
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  • 6. A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.
    Suzuki Y, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.
    Brain Dev; 2004 Apr 15; 26(3):206-8. PubMed ID: 15030911
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  • 7. A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.
    Kinoshita T, Imaizumi T, Miura Y, Fujimoto H, Ayabe M, Shoji H, Okamoto Y, Takashima H, Osame M, Nakagawa M.
    Neurosci Lett; 2003 Oct 30; 350(3):169-72. PubMed ID: 14550921
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  • 8. Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.
    Schmidt S, Wattjes MP, Gerding WM, van der Knaap M.
    J Neurol; 2011 May 30; 258(5):938-40. PubMed ID: 21165639
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  • 12. Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
    Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.
    Neuropediatrics; 2007 Jun 30; 38(3):143-7. PubMed ID: 17985264
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  • 15. Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
    Knuutinen O, Kousi M, Suo-Palosaari M, Moilanen JS, Tuominen H, Vainionpää L, Joensuu T, Anttonen AK, Uusimaa J, Lehesjoki AE, Vieira P.
    Neuropediatrics; 2018 Aug 30; 49(4):256-261. PubMed ID: 29801191
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  • 18. Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review.
    Alexander AL, Lim SY, Massingham LJ, Phillips O, Chambers MK, Donahue JE.
    J Neuropathol Exp Neurol; 2022 Nov 16; 81(12):1033-1036. PubMed ID: 36137250
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  • 19. Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.
    Murakami N, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T.
    Pediatr Neurol; 2008 Jan 16; 38(1):50-2. PubMed ID: 18054694
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  • 20. Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.
    Di Giovanni M, Poggiani A, Bianchi S, Rosini F, Rufa A, Federico A.
    Neurol Sci; 2016 Jan 16; 37(1):143-145. PubMed ID: 26396075
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