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Items: 1 to 20 of 205

1.

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
2.

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
3.

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
4.

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.

5.

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
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.

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
9.

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
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.

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
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.

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
14.

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
15.

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
16.

Alexander disease: a review and the gene.

Johnson AB.

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

PMID:
12175878
17.

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
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.

Unusual variants of Alexander's disease.

van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M.

Ann Neurol. 2005 Mar;57(3):327-38. Erratum in: Ann Neurol. 2005 Jul;58(1):172.

PMID:
15732098
20.

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

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