Literature DB >> 24961628

A new mutation in GFAP widens the spectrum of Alexander disease.

Michael Brenner1, Albee Messing1.   

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Year:  2014        PMID: 24961628      PMCID: PMC4266752          DOI: 10.1038/ejhg.2014.99

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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  11 in total

Review 1.  Mild cognitive impairment: disparity of incidence and prevalence estimates.

Authors:  Alex Ward; H Michael Arrighi; Shannon Michels; Jesse M Cedarbaum
Journal:  Alzheimers Dement       Date:  2012-01       Impact factor: 21.566

2.  Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.

Authors:  Tai-Seung Nam; Jin Hee Kim; Chi-Hsuan Chang; Woong Yoon; Yoon Seok Jung; Sa-Yoon Kang; Boo Ahn Shin; Ming-Der Perng; Seok-Yong Choi; Myeong-Kyu Kim
Journal:  Eur J Hum Genet       Date:  2014-04-23       Impact factor: 4.246

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

4.  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

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.  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

7.  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

8.  Patterns of medication use by chronic and episodic headache sufferers in the general population: results from the frequent headache epidemiology study.

Authors:  A I Scher; R B Lipton; W F Stewart; M Bigal
Journal:  Cephalalgia       Date:  2010-02-01       Impact factor: 6.292

9.  Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Authors:  M Brenner; A B Johnson; O Boespflug-Tanguy; D Rodriguez; J E Goldman; A Messing
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

10.  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

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  3 in total

1.  Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua.

Authors:  Daniel J Bonthius; Bahri Karacay
Journal:  J Child Neurol       Date:  2015-12-29       Impact factor: 1.987

2.  Stratification of astrocytes in healthy and diseased brain.

Authors:  Alexei Verkhratsky; Robert Zorec; Vladimir Parpura
Journal:  Brain Pathol       Date:  2017-09       Impact factor: 6.508

Review 3.  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

  3 in total

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