Literature DB >> 19412928

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.

Hiroyuki Kaneko, Masaki Hirose, Shinichi Katada, Toshiaki Takahashi, Satoshi Naruse, Miyuki Tsuchiya, Tomokatsu Yoshida, Masanori Nakagawa, Osamu Onodera, Masatoyo Nishizawa, Takeshi Ikeuchi.   

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Year:  2009        PMID： 19412928     DOI： 10.1002/mds.22556

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Authors:  Tomokatsu Yoshida; Masayuki Sasaki; Mari Yoshida; Michito Namekawa; Yuji Okamoto; Seiichi Tsujino; Hiroshi Sasayama; Ikuko Mizuta; Masanori Nakagawa
Journal:  J Neurol       Date:  2011-05-01       Impact factor: 4.849

Review 2.  Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature.

Authors:  Michito Namekawa; Yoshihisa Takiyama; Junko Honda; Haruo Shimazaki; Kumi Sakoe; Imaharu Nakano
Journal:  BMC Neurol       Date:  2010-04-01       Impact factor: 2.474

3.  GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Authors:  M Prust; J Wang; H Morizono; A Messing; M Brenner; E Gordon; T Hartka; A Sokohl; R Schiffmann; H Gordish-Dressman; R Albin; H Amartino; K Brockman; A Dinopoulos; M T Dotti; D Fain; R Fernandez; J Ferreira; J Fleming; D Gill; M Griebel; H Heilstedt; P Kaplan; D Lewis; M Nakagawa; R Pedersen; A Reddy; Y Sawaishi; M Schneider; E Sherr; Y Takiyama; K Wakabayashi; J R Gorospe; A Vanderver
Journal:  Neurology       Date:  2011-09-14       Impact factor: 11.800

4.  Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Authors:  Lan-Xiao Cao; Mi Yang; Ying Liu; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2020-11-06       Impact factor: 1.337

Review 5.  Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Authors:  Katayoun Heshmatzad; Niloofar Naderi; Tannaz Masoumi; Hamidreza Pouraliakbar; Samira Kalayinia
Journal:  Eur J Med Res       Date:  2022-09-10       Impact factor: 4.981
  5 in total

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