Literature DB >> 21165639

Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.

Stephan Schmidt, Mike P Wattjes, Wanda M Gerding, Marjo van der Knaap.   

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Year:  2010        PMID： 21165639     DOI： 10.1007/s00415-010-5849-0

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


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  12 in total

1.  Prediction of deleterious human alleles.

Authors:  S Sunyaev; V Ramensky; I Koch; W Lathe; A S Kondrashov; P Bork
Journal:  Hum Mol Genet       Date:  2001-03-15       Impact factor: 6.150

2.  Predicting deleterious amino acid substitutions.

Authors:  P C Ng; S Henikoff
Journal:  Genome Res       Date:  2001-05       Impact factor: 9.043

Review 3.  GFAP and its role in Alexander disease.

Authors:  Roy A Quinlan; Michael Brenner; James E Goldman; Albee Messing
Journal:  Exp Cell Res       Date:  2007-04-06       Impact factor: 3.905

4.  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

5.  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

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.  The aetiology of sporadic adult-onset ataxia.

Authors:  M Abele; K Bürk; L Schöls; S Schwartz; I Besenthal; J Dichgans; C Zühlke; O Riess; T Klockgether
Journal:  Brain       Date:  2002-05       Impact factor: 13.501

8.  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 9.  Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Authors:  Davide Pareyson; Roberto Fancellu; Caterina Mariotti; Silvia Romano; Andrea Salmaggi; Francesco Carella; Floriano Girotti; Grazietta Gattellaro; Maria Rita Carriero; Laura Farina; Isabella Ceccherini; Mario Savoiardo
Journal:  Brain       Date:  2008-08-06       Impact factor: 13.501

10.  The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.

Authors:  Mark Wardle; Elisa Majounie; Mustapha B Muzaimi; Nigel M Williams; Huw R Morris; Neil P Robertson
Journal:  J Neurol       Date:  2009-03-06       Impact factor: 4.849
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  6 in total

1.  Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases.

Authors:  Ayşe Deniz Elmali; Ümran Çetinçelik; Civan Işlak; Nurten Uzun Adatepe; Feray Karaali Savrun; Cengiz Yalçinkaya
Journal:  Noro Psikiyatr Ars       Date:  2016-06-01       Impact factor: 1.339

Review 2.  Clinical neurogenetics: recent advances.

Authors:  Davide Pareyson; Ettore Salsano
Journal:  J Neurol       Date:  2012-07-21       Impact factor: 4.849

3.  Juvenile Alexander Disease: A Rare Leukodystrophy.

Authors:  Rizwan Ullah; Muhammad Hayyan Wazir; Aiysha Gul; Faiza Gul; Amna Arshad
Journal:  Cureus       Date:  2022-05-10

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.  Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

Authors:  So-Hyun Lee; Tai-Seung Nam; Kun-Hee Kim; Jin Hee Kim; Woong Yoon; Suk-Hee Heo; Min Jung Kim; Boo Ahn Shin; Ming-Der Perng; Hyon E Choy; Jihoon Jo; Myeong-Kyu Kim; Seok-Yong Choi
Journal:  BMC Neurol       Date:  2017-09-07       Impact factor: 2.474

6.  GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.

Authors:  Filippo Pinto E Vairo; Nicole Bertsch; Eric W Klee; Ralitza H Gavrilova
Journal:  Acta Neuropathol Commun       Date:  2018-10-24       Impact factor: 7.801
  6 in total

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