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Items: 1 to 20 of 120

1.

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.

Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66.

2.

Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.

Yoshida T, Sasayama H, Mizuta I, Okamoto Y, Yoshida M, Riku Y, Hayashi Y, Yonezu T, Takata Y, Ohnari K, Okuda S, Aiba I, Nakagawa M.

Acta Neurol Scand. 2011 Aug;124(2):104-8. doi: 10.1111/j.1600-0404.2010.01427.x. Epub 2010 Sep 16.

PMID:
20849398
3.

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K.

J Neurol Sci. 2004 Oct 15;225(1-2):125-7.

PMID:
15465095
4.

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
5.

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
6.

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.

7.

Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene.

Schmidt S, Wattjes MP, Gerding WM, van der Knaap M.

J Neurol. 2011 May;258(5):938-40. doi: 10.1007/s00415-010-5849-0. Epub 2010 Dec 17. No abstract available.

PMID:
21165639
8.

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
9.

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
10.

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

Wada Y, Yanagihara C, Nishimura Y, Namekawa M.

J Neurol Sci. 2013 Aug 15;331(1-2):161-4. doi: 10.1016/j.jns.2013.05.019. Epub 2013 Jun 4.

11.

A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?

Brockmann K, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F.

Eur Neurol. 2003;50(2):100-5.

PMID:
12944715
12.

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.

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.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L.

Eur J Paediatr Neurol. 2014 Jul;18(4):495-501. doi: 10.1016/j.ejpn.2014.03.009. Epub 2014 Apr 8.

PMID:
24742911
15.

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
16.

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
17.

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

Kyllerman M, Rosengren L, Wiklund LM, Holmberg E.

Neuropediatrics. 2005 Oct;36(5):319-23.

PMID:
16217707
18.

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.

Kinoshita T, Imaizumi T, Miura Y, Fujimoto H, Ayabe M, Shoji H, Okamoto Y, Takashima H, Osame M, Nakagawa M.

Neurosci Lett. 2003 Oct 30;350(3):169-72.

PMID:
14550921
19.

[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

Sueda Y, Takahashi T, Ochi K, Ohtsuki T, Namekawa M, Kohriyama T, Takiyama Y, Matsumoto M.

Rinsho Shinkeigaku. 2009 Jun;49(6):358-63. Review. Japanese.

PMID:
19618846
20.

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
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