Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 109

1.

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.

Yoshida T, Mizuta I, Saito K, Ohara R, Kurisaki H, Ohnari K, Riku Y, Hayashi Y, Suzuki H, Shii H, Fujiwara Y, Yonezu T, Nagaishi A, Nakagawa M.

J Hum Genet. 2013 Sep;58(9):635-8. doi: 10.1038/jhg.2013.83. Epub 2013 Aug 1.

PMID:
23903069
2.

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Zang L, Wang J, Jiang Y, Gu Q, Gao Z, Yang Y, Xiao J, Wu Y.

J Hum Genet. 2013 Apr;58(4):183-8. doi: 10.1038/jhg.2012.152. Epub 2013 Jan 31.

PMID:
23364391
3.

GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A.

Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14.

4.

Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation.

Yoshida T, Nakagawa M.

Neuropathology. 2012 Aug;32(4):440-6. doi: 10.1111/j.1440-1789.2011.01268.x. Epub 2011 Nov 28. Review.

PMID:
22118268
5.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, Mori M, Namekawa M, Jimbo EF, Aihara T, Yamagata T, Osaka H.

Brain Dev. 2018 Aug;40(7):587-591. doi: 10.1016/j.braindev.2018.03.002. Epub 2018 Mar 21.

PMID:
29573842
6.

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.

7.

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

Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.

Brain. 2008 Sep;131(Pt 9):2321-31. doi: 10.1093/brain/awn178. Epub 2008 Aug 6. Review.

PMID:
18684770
8.

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M; Alexander Disease Study Group in Japan.

J Neurol. 2011 Nov;258(11):1998-2008. doi: 10.1007/s00415-011-6056-3. Epub 2011 May 1.

PMID:
21533827
9.

Alexander disease: putative mechanisms of an astrocytic encephalopathy.

Mignot C, Boespflug-Tanguy O, Gelot A, Dautigny A, Pham-Dinh D, Rodriguez D.

Cell Mol Life Sci. 2004 Feb;61(3):369-85. Review.

PMID:
14770299
10.

Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

da Silva Pereira CC, Gattás GS, Lucato LT.

J Comput Assist Tomogr. 2013 Sep-Oct;37(5):698-700. doi: 10.1097/RCT.0b013e31829f5a04.

PMID:
24045243
11.
12.

Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

Ferreira MC, Dorboz I, Rodriguez D, Boespflug Tanguy O.

Eur J Med Genet. 2015 Sep;58(9):466-70. doi: 10.1016/j.ejmg.2015.07.002. Epub 2015 Jul 21.

PMID:
26208460
13.

The clinical spectrum of late-onset Alexander disease: a systematic literature review.

Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G.

J Neurol. 2010 Dec;257(12):1955-62. doi: 10.1007/s00415-010-5706-1. Epub 2010 Aug 20. Review.

PMID:
20721574
14.

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

Hagemann TL, Boelens WC, Wawrousek EF, Messing A.

Hum Mol Genet. 2009 Apr 1;18(7):1190-9. doi: 10.1093/hmg/ddp013. Epub 2009 Jan 7.

15.

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
16.

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
18.

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.

19.

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
20.

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.

Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P.

Arch Neurol. 2003 Sep;60(9):1307-12.

PMID:
12975300

Supplemental Content

Support Center