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Journal Abstract Search

172 related items for PubMed ID: 19444543

  • 1. An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
    Dotti MT, Buccoliero R, Lee A, Gorospe JR, Flint D, Galluzzi P, Bianchi S, D'Eramo C, Naidu S, Federico A, Brenner M.
    J Neurol; 2009 Apr; 256(4):679-82. PubMed ID: 19444543
    [No Abstract] [Full Text] [Related]

  • 2. Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
    Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
    Brain Dev; 2006 Jan; 28(1):60-2. PubMed ID: 16168595
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  • 3. An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
    Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S.
    Brain Dev; 2006 Mar; 28(2):131-3. PubMed ID: 16168593
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  • 6. Adult-onset Alexander disease : report on a family.
    Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L.
    J Neurol; 2008 Jan; 255(1):24-30. PubMed ID: 18004641
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  • 7. Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.
    Kyllerman M, Rosengren L, Wiklund LM, Holmberg E.
    Neuropediatrics; 2005 Oct; 36(5):319-23. PubMed ID: 16217707
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  • 8. An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
    Ohnari K, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.
    J Neurol; 2007 Oct; 254(10):1390-4. PubMed ID: 17934883
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  • 10. Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype.
    Moser HW.
    Ann Neurol; 2005 Mar; 57(3):307-8. PubMed ID: 15732119
    [No Abstract] [Full Text] [Related]

  • 11. 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; 258(5):938-40. PubMed ID: 21165639
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  • 12. 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; 41(2):195-200. PubMed ID: 30213442
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  • 13. 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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  • 14. 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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  • 16. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
    Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.
    Arch Neurol; 2003 Sep 15; 60(9):1307-12. PubMed ID: 12975300
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  • 18. 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 15; 37(1):143-145. PubMed ID: 26396075
    [No Abstract] [Full Text] [Related]

  • 19. Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
    Suzuki H, Yoshida T, Kitada M, Ichihashi J, Sasayama H, Nishikawa Y, Mistui Y, Nakagawa M, Kusunoki S.
    J Neurol; 2012 Mar 15; 259(3):457-61. PubMed ID: 21822933
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