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Items: 1 to 20 of 286

1.

Review of Alexander disease: beyond the classical concept of leukodystrophy.

Sawaishi Y.

Brain Dev. 2009 Aug;31(7):493-8. doi: 10.1016/j.braindev.2009.03.006. Epub 2009 Apr 21. Review.

PMID:
19386454
2.

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

Ohnari K, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M.

J Neurol. 2007 Oct;254(10):1390-4. Epub 2007 Oct 15.

PMID:
17934883
3.

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
4.

Alexander disease: a review and the gene.

Johnson AB.

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

PMID:
12175878
6.

Adult-onset Alexander disease : report on a family.

Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L.

J Neurol. 2008 Jan;255(1):24-30. Epub 2007 Nov 21.

PMID:
18004641
7.

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
8.

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.

van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS.

Neurology. 2006 Feb 28;66(4):494-8.

PMID:
16505300
9.

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
10.

An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.

Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S.

Brain Dev. 2006 Mar;28(2):131-3. Epub 2005 Sep 15.

PMID:
16168593
11.

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
12.

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.

Acta Neuropathol. 2007 Nov;114(5):543-5. Epub 2007 Sep 6. No abstract available.

PMID:
17805552
13.

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.

14.

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
15.

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
16.

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.

Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, Taguchi T, Tanaka Y, Nishizawa M, Saito K, Matsubara Y, Nakano I.

Ann Neurol. 2002 Dec;52(6):779-85.

PMID:
12447932
17.

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.

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
19.

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
20.

Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.

Nobuhara Y, Nakahara K, Higuchi I, Yoshida T, Fushiki S, Osame M, Arimura K, Nakagawa M.

Neurology. 2004 Oct 12;63(7):1302-4.

PMID:
15477559

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