Literature DB >> 32775528

Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake.

Takashi Ogawa1,2, Kotaro Ogaki1,2, Mayu Ishiguro1, Maya Ando1, Tomokatsu Yoshida3, Kazuyuki Noda1, Nobutaka Hattori2, Yasuyuki Okuma1.   

Abstract

Entities:  

Keywords:  Alexander disease; dopamine transporter imaging; extrapyramidal signs; novel mutation; single‐photon emission computed tomography.

Year:  2020        PMID： 32775528      PMCID： PMC7396848          DOI： 10.1002/mdc3.12998

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  5 in total

1.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

2.  An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene.

Authors:  Yasushi Iwasaki; Yufuko Saito; Keiko Mori; Masumi Ito; Maya Mimuro; Ikuko Aiba; Kozo Saito; Ikuko Mizuta; Tomokatsu Yoshida; Masanori Nakagawa; Mari Yoshida
Journal:  Clin Neuropathol       Date:  2015 Jul-Aug       Impact factor: 1.368

3.  Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.

Authors:  M S van der Knaap; V Ramesh; R Schiffmann; S Blaser; M Kyllerman; A Gholkar; D W Ellison; J P van der Voorn; S J M van Dooren; C Jakobs; F Barkhof; G S Salomons
Journal:  Neurology       Date:  2006-02-28       Impact factor: 9.910

4.  Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.

Authors:  T Yoshida; H Sasayama; I Mizuta; Y Okamoto; M Yoshida; Y Riku; Y Hayashi; T Yonezu; Y Takata; K Ohnari; S Okuda; I Aiba; M Nakagawa
Journal:  Acta Neurol Scand       Date:  2010-09-16       Impact factor: 3.209

5.  Predicting functional effect of human missense mutations using PolyPhen-2.

Authors:  Ivan Adzhubei; Daniel M Jordan; Shamil R Sunyaev
Journal:  Curr Protoc Hum Genet       Date:  2013-01
  5 in total
  1 in total

Review 1.  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
  1 in total

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