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Items: 1 to 20 of 143

1.

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.

2.

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
3.

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
4.

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.

Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F.

Neuropediatrics. 2002 Aug;33(4):194-8.

PMID:
12368989
5.

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
6.

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
7.

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
8.

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
9.

A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.

Suzuki Y, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S.

Brain Dev. 2004 Apr;26(3):206-8.

PMID:
15030911
10.

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
11.

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.

Shiroma N, Kanazawa N, Izumi M, Sugai K, Fukumizu M, Sasaki M, Hanaoka S, Kaga M, Tsujino S.

J Hum Genet. 2001;46(10):579-82.

PMID:
11587071
12.

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
13.

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
14.

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
15.

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
16.

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
17.

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
18.

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

Ma HW, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):79-81. Chinese.

PMID:
15696488
19.

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.

20.
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