PubMed (cited) for id: 137780

Year	Number of Results
1988	1
1989	1
1991	2
1995	2
1996	2
1998	1
1999	1
2001	3
2002	4
2003	2
2005	3
2006	2
2007	1
2009	1
2011	1
2013	2
2015	2
2016	1
2018	1
2019	1
2024	0

1

c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease.

Karp N, Lee D, Shickh S, Jenkins ME. Karp N, et al. Eur J Med Genet. 2019 Apr;62(4):235-238. doi: 10.1016/j.ejmg.2018.07.020. Epub 2018 Jul 23. Eur J Med Genet. 2019. PMID: 30048824

2

A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever.

Van Poucke M, Martlé V, Van Brantegem L, Ducatelle R, Van Ham L, Bhatti S, Peelman LJ. Van Poucke M, et al. Eur J Hum Genet. 2016 Jun;24(6):852-6. doi: 10.1038/ejhg.2015.223. Epub 2015 Oct 21. Eur J Hum Genet. 2016. PMID: 26486469 Free PMC article.

3

Glial fibrillary acidic protein (GFAP) and the astrocyte intermediate filament system in diseases of the central nervous system.

Hol EM, Pekny M. Hol EM, et al. Curr Opin Cell Biol. 2015 Feb;32:121-30. doi: 10.1016/j.ceb.2015.02.004. Epub 2015 Mar 2. Curr Opin Cell Biol. 2015. PMID: 25726916 Review.

4

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M. Melchionda L, et al. Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66. Orphanet J Rare Dis. 2013. PMID: 23634874 Free PMC article.

5

RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.

Radomska KJ, Halvardson J, Reinius B, Lindholm Carlström E, Emilsson L, Feuk L, Jazin E. Radomska KJ, et al. Hum Mol Genet. 2013 Apr 1;22(7):1373-82. doi: 10.1093/hmg/dds553. Epub 2013 Jan 15. Hum Mol Genet. 2013. PMID: 23321059

6

GFAP in health and disease.

Middeldorp J, Hol EM. Middeldorp J, et al. Prog Neurobiol. 2011 Mar;93(3):421-43. doi: 10.1016/j.pneurobio.2011.01.005. Epub 2011 Jan 8. Prog Neurobiol. 2011. PMID: 21219963 Review.

7

Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease.

Hagemann TL, Boelens WC, Wawrousek EF, Messing A. Hagemann TL, et al. Hum Mol Genet. 2009 Apr 1;18(7):1190-9. doi: 10.1093/hmg/ddp013. Epub 2009 Jan 7. Hum Mol Genet. 2009. PMID: 19129171 Free PMC article.

8

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. Caroli F, et al. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839

9

The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27.

Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA. Der Perng M, et al. Am J Hum Genet. 2006 Aug;79(2):197-213. doi: 10.1086/504411. Epub 2006 Jun 12. Am J Hum Genet. 2006. PMID: 16826512 Free PMC article.

10

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

Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765

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