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Results: 1 to 20 of 41

1.

Neuroimaging and clinical features in type II (late-onset) Alexander disease.

Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N.

Neurology. 2014 Jan 7;82(1):49-56. doi: 10.1212/01.wnl.0000438230.33223.bc. Epub 2013 Dec 4.

PMID:
24306001
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

A conserved rod domain phosphotyrosine that is targeted by the phosphatase PTP1B promotes keratin 8 protein insolubility and filament organization.

Snider NT, Park H, Omary MB.

J Biol Chem. 2013 Oct 25;288(43):31329-37. doi: 10.1074/jbc.M113.502724. Epub 2013 Sep 3.

PMID:
24003221
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23743246
[PubMed - indexed for MEDLINE]
6.

A young child with seizures and mild developmental delay. Diagnosis: Alexander disease.

Seguias L, Khan M.

Pediatr Ann. 2013 Jun 1;42(6):234-7. doi: 10.3928/00904481-20130522-06. No abstract available.

PMID:
23718245
[PubMed - indexed for MEDLINE]
7.

Acute onset of adult Alexander disease.

Schmidt H, Kretzschmar B, Lingor P, Pauli S, Schramm P, Otto M, Ohlenbusch A, Brockmann K.

J Neurol Sci. 2013 Aug 15;331(1-2):152-4. doi: 10.1016/j.jns.2013.05.006. Epub 2013 May 23.

PMID:
23706596
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
23634874
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Leukodystrophies with astrocytic dysfunction.

Rodriguez D.

Handb Clin Neurol. 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. Review.

PMID:
23622383
[PubMed - indexed for MEDLINE]
10.

Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.

Pekny T, Faiz M, Wilhelmsson U, Curtis MA, Matej R, Skalli O, Pekny M.

APMIS. 2014 Jan;122(1):76-80. doi: 10.1111/apm.12088. Epub 2013 Apr 18.

PMID:
23594359
[PubMed - indexed for MEDLINE]
11.

MRS findings in a patient with juvenile-onset Alexander's leukodystrophy.

Nelson A, Kelley RE, Nguyen J, Palacios E, Neitzschman HR.

J La State Med Soc. 2013 Jan-Feb;165(1):14-7.

PMID:
23550391
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

One size does not fit all: the oligomeric states of αB crystallin.

Delbecq SP, Klevit RE.

FEBS Lett. 2013 Apr 17;587(8):1073-80. doi: 10.1016/j.febslet.2013.01.021. Epub 2013 Jan 20. Review.

PMID:
23340341
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Magnetic resonance imaging "tigroid pattern" in Alexander disease.

Biancheri R, Rossi A, Ceccherini I, Pezzella M, Prato G, Striano P, Minetti C.

Neuropediatrics. 2013 Jun;44(3):174-6. doi: 10.1055/s-0032-1329910. Epub 2012 Dec 19.

PMID:
23254569
[PubMed - indexed for MEDLINE]
15.

Alexander disease.

Zafeiriou DI, Dragoumi P, Vargiami E.

J Pediatr. 2013 Mar;162(3):648. doi: 10.1016/j.jpeds.2012.09.047. Epub 2012 Nov 10. No abstract available.

PMID:
23149175
[PubMed - indexed for MEDLINE]
16.

Recognizable phenotypes associated with intracranial calcification.

Livingston JH, Stivaros S, van der Knaap MS, Crow YJ.

Dev Med Child Neurol. 2013 Jan;55(1):46-57. doi: 10.1111/j.1469-8749.2012.04437.x. Epub 2012 Nov 1.

PMID:
23121296
[PubMed - indexed for MEDLINE]
17.

Beneficial effects of αB-crystallin in spinal cord contusion injury.

Klopstein A, Santos-Nogueira E, Francos-Quijorna I, Redensek A, David S, Navarro X, López-Vales R.

J Neurosci. 2012 Oct 17;32(42):14478-88. doi: 10.1523/JNEUROSCI.0923-12.2012.

PMID:
23077034
[PubMed - indexed for MEDLINE]
Free Article
18.

Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions.

Renard D, Brochet B, Vukusic S, Edan G, Deburghgraeve V, Goizet C, Dupuy D, Touze E, Deschamps R, Zephyr H, Creange A, Castelnovo G, Boespflug-Tanguy O, Labauge P.

Eur Neurol. 2012;68(3):156-61. Epub 2012 Aug 14.

PMID:
22907640
[PubMed - indexed for MEDLINE]
19.

Alexander's disease: reassessment of a neonatal form.

Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M.

Childs Nerv Syst. 2012 Dec;28(12):2029-31. doi: 10.1007/s00381-012-1868-8. Epub 2012 Aug 14. Review.

PMID:
22890470
[PubMed - indexed for MEDLINE]
20.

Beneficial effects of Nrf2 overexpression in a mouse model of Alexander disease.

LaPash Daniels CM, Austin EV, Rockney DE, Jacka EM, Hagemann TL, Johnson DA, Johnson JA, Messing A.

J Neurosci. 2012 Aug 1;32(31):10507-15. doi: 10.1523/JNEUROSCI.1494-12.2012.

PMID:
22855800
[PubMed - indexed for MEDLINE]
Free PMC Article

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