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Items: 1 to 20 of 178

1.

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

Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A.

Nat Genet. 2001 Jan;27(1):117-20.

PMID:
11138011
2.

GFAP mutations in Alexander disease.

Li R, Messing A, Goldman JE, Brenner M.

Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. Review.

PMID:
12175861
3.

Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance.

Tanaka KF, Takebayashi H, Yamazaki Y, Ono K, Naruse M, Iwasato T, Itohara S, Kato H, Ikenaka K.

Glia. 2007 Apr 15;55(6):617-31.

PMID:
17299771
4.

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

Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP.

Neurology. 2002 May 28;58(10):1494-500.

PMID:
12034785
5.

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

Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.

Ann Neurol. 2005 Mar;57(3):310-26.

PMID:
15732097
6.

Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.

Murakami N, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T.

Pediatr Neurol. 2008 Jan;38(1):50-2.

PMID:
18054694
7.

Clinical and genetic study in Chinese patients with Alexander disease.

Ye Wu, Qiang Gu, Jingmin Wang, Yanling Yang, Xiru Wu, Yuwu Jiang.

J Child Neurol. 2008 Feb;23(2):173-7. Epub 2007 Dec 13.

PMID:
18079314
8.

Alexander disease: a review and the gene.

Johnson AB.

Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):391-4. Review.

PMID:
12175878
9.
10.

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Shiroma N, Kanazawa N, Kato Z, Shimozawa N, Imamura A, Ito M, Ohtani K, Oka A, Wakabayashi K, Iai M, Sugai K, Sasaki M, Kaga M, Ohta T, Tsujino S.

Brain Dev. 2003 Mar;25(2):116-21.

PMID:
12581808
11.

Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease.

Tian R, Gregor M, Wiche G, Goldman JE.

Am J Pathol. 2006 Mar;168(3):888-97.

12.

Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.

Sawaishi Y, Yano T, Takaku I, Takada G.

Neurology. 2002 May 28;58(10):1541-3.

PMID:
12034796
13.

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.

Clin Genet. 2007 Nov;72(5):427-33. Epub 2007 Sep 25.

PMID:
17894839
14.

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.

Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y.

Neurosci Lett. 2001 Oct 19;312(2):71-4.

PMID:
11595337
15.

Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction.

Hagemann TL, Gaeta SA, Smith MA, Johnson DA, Johnson JA, Messing A.

Hum Mol Genet. 2005 Aug 15;14(16):2443-58. Epub 2005 Jul 13.

17.

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

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.

Am J Hum Genet. 2001 Nov;69(5):1134-40. Epub 2001 Sep 20. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413.

18.

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.

Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I.

Eur J Hum Genet. 2008 Apr;16(4):462-70. doi: 10.1038/sj.ejhg.5201995. Epub 2008 Jan 16.

19.

Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.

Neuropediatrics. 2007 Jun;38(3):143-7.

PMID:
17985264
20.

Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.

Pekny T, Faiz M, Wilhelmsson U, Curtis MA, Matej R, Skalli O, Pekny M.

APMIS. 2014 Jan;122(1):76-80. doi: 10.1111/apm.12088. Epub 2013 Apr 18.

PMID:
23594359
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