Literature DB >> 17703343

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.

Andrea Salmaggi, Andrea Botturi, Elena Lamperti, Marina Grisoli, Rita Fischetto, Isabella Ceccherini, Francesco Caroli, Amerigo Boiardi.   

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Year:  2007        PMID： 17703343     DOI： 10.1007/s00415-006-0361-2

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype.

Authors:  Hugo W Moser
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

2.  Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

Authors:  W S ALEXANDER
Journal:  Brain       Date:  1949-09       Impact factor: 13.501

3.  Alexander disease: diagnosis with MR imaging.

Authors:  M S van der Knaap; S Naidu; S N Breiter; S Blaser; H Stroink; S Springer; J C Begeer; R van Coster; P G Barth; N H Thomas; J Valk; J M Powers
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

Review 4.  Alexander disease: new insights from genetics.

Authors:  A Messing; J E Goldman; A B Johnson; M Brenner
Journal:  J Neuropathol Exp Neurol       Date:  2001-06       Impact factor: 3.685

5.  Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Authors:  Rong Li; Anne B Johnson; Gajja Salomons; James E Goldman; Sakkubai Naidu; Roy Quinlan; Bruce Cree; Stephanie Z Ruyle; Brenda Banwell; Marc D'Hooghe; Joseph R Siebert; Cristin M Rolf; Helen Cox; Alyssa Reddy; Luis González Gutiérrez-Solana; Amanda Collins; Roy O Weller; Albee Messing; Marjo S van der Knaap; Michael Brenner
Journal:  Ann Neurol       Date:  2005-03       Impact factor: 10.422

6.  Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Authors:  D Rodriguez; F Gauthier; E Bertini; M Bugiani; M Brenner; S N'guyen; C Goizet; A Gelot; R Surtees; J M Pedespan; X Hernandorena; M Troncoso; G Uziel; A Messing; G Ponsot; D Pham-Dinh; A Dautigny; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2001-09-20       Impact factor: 11.025

7.  Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold.

Authors:  N Tomokane; T Iwaki; J Tateishi; A Iwaki; J E Goldman
Journal:  Am J Pathol       Date:  1991-04       Impact factor: 4.307

8.  Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Authors:  Erika Stumpf; Hélène Masson; Antoine Duquette; France Berthelet; Julia McNabb; Anne Lortie; Jacques Lesage; Jacques Montplaisir; Bernard Brais; Patrick Cossette
Journal:  Arch Neurol       Date:  2003-09

9.  Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

Authors:  Michito Namekawa; Yoshihisa Takiyama; Yoko Aoki; Norio Takayashiki; Kumi Sakoe; Haruo Shimazaki; Tomohiro Taguchi; Yasufumi Tanaka; Masatoyo Nishizawa; Ken Saito; Yoichi Matsubara; Imaharu Nakano
Journal:  Ann Neurol       Date:  2002-12       Impact factor: 10.422

10.  Alexander's disease: further light-, and electron-microscopic observations.

Authors:  J Towfighi; R Young; J Sassani; J Ramer; D S Horoupian
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088
  10 in total
  5 in total

1.  Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.

Authors:  Yi-Song Chen; Suh-Ciuan Lim; Mei-Hsuan Chen; Roy A Quinlan; Ming-Der Perng
Journal:  Exp Cell Res       Date:  2011-07-02       Impact factor: 3.905

2.  Can MR imaging diagnose adult-onset Alexander disease?

Authors:  L Farina; D Pareyson; L Minati; I Ceccherini; L Chiapparini; S Romano; P Gambaro; R Fancellu; M Savoiardo
Journal:  AJNR Am J Neuroradiol       Date:  2008-04-03       Impact factor: 3.825

Review 3.  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

Review 4.  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.  Does genetic anticipation occur in familial Alexander disease?

Authors:  Camille K Hunt; Ahmad Al Khleifat; Ella Burchill; Joerg Ederle; Ammar Al-Chalabi; Jemeen Sreedharan
Journal:  Neurogenetics       Date:  2021-05-28       Impact factor: 2.660
  5 in total

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