Literature DB >> 19444543

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.

Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J Raphael Gorospe, Daniel Flint, Paolo Galluzzi, Silvia Bianchi, Camilla D'Eramo, Sakkubai Naidu, Antonio Federico, Michael Brenner.   

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Year:  2009        PMID： 19444543      PMCID： PMC2866648          DOI： 10.1007/s00415-009-0147-4

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


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  10 in total

1.  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

2.  Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

Authors:  J R Gorospe; S Naidu; A B Johnson; V Puri; G V Raymond; S D Jenkins; R C Pedersen; D Lewis; P Knowles; R Fernandez; D De Vivo; M S van der Knaap; A Messing; M Brenner; E P Hoffman
Journal:  Neurology       Date:  2002-05-28       Impact factor: 9.910

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 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

5.  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

6.  Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.

Authors:  Beate Winner; Claudia Gross; Gökhan Uyanik; Wilhelm Schulte-Mattler; Ralf Lürding; Jörg Marienhagen; Ulrich Bogdahn; Christian Windpassinger; Ute Hehr; Jürgen Winkler
Journal:  Clin Neurol Neurosurg       Date:  2005-08-15       Impact factor: 1.876

7.  A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

Authors:  Knut Brockmann; Moritz Meins; Angelika Taubert; Ralf Trappe; Martin Grond; Folker Hanefeld
Journal:  Eur Neurol       Date:  2003       Impact factor: 1.710

8.  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

9.  Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Authors:  Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
Journal:  Nat Genet       Date:  2007-02-18       Impact factor: 38.330

10.  Propensity for paternal inheritance of de novo mutations in Alexander disease.

Authors:  Rong Li; Anne B Johnson; Gajja S Salomons; Marjo S van der Knaap; Diana Rodriguez; Odile Boespflug-Tanguy; J Rafael Gorospe; James E Goldman; Albee Messing; Michael Brenner
Journal:  Hum Genet       Date:  2005-12-20       Impact factor: 4.132
  10 in total
  3 in total

1.  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

Review 2.  Neuroimmunological Implications of AQP4 in Astrocytes.

Authors:  Hiroko Ikeshima-Kataoka
Journal:  Int J Mol Sci       Date:  2016-08-10       Impact factor: 5.923

3.  Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.

Authors:  J Paprocka; B Rzepka-Migut; N Rzepka; A Jezela-Stanek; E Morava
Journal:  Balkan J Med Genet       Date:  2019-12-21       Impact factor: 0.519
  3 in total

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