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Results: 1 to 20 of 23

1.

Long-term follow-up after gene therapy for canavan disease.

Leone P, Shera D, McPhee SW, Francis JS, Kolodny EH, Bilaniuk LT, Wang DJ, Assadi M, Goldfarb O, Goldman HW, Freese A, Young D, During MJ, Samulski RJ, Janson CG.

Sci Transl Med. 2012 Dec 19;4(165):165ra163. doi: 10.1126/scitranslmed.3003454.

PMID:
23253610
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.

Baslow MH, Guilfoyle DN.

Biochimie. 2013 Apr;95(4):946-56. doi: 10.1016/j.biochi.2012.10.023. Epub 2012 Nov 11.

PMID:
23151389
[PubMed - indexed for MEDLINE]
3.

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Bijarnia S, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.

Indian J Pediatr. 2013 Jan;80(1):26-31. doi: 10.1007/s12098-012-0862-1. Epub 2012 Aug 10.

PMID:
22878930
[PubMed - indexed for MEDLINE]
4.

Relationship between enzyme properties and disease progression in Canavan disease.

Zano S, Wijayasinghe YS, Malik R, Smith J, Viola RE.

J Inherit Metab Dis. 2013 Jan;36(1):1-6. doi: 10.1007/s10545-012-9520-z. Epub 2012 Aug 1. Erratum in: J Inherit Metab Dis. 2013 Jan;36(1):159-60.

PMID:
22850825
[PubMed - indexed for MEDLINE]
5.

Expression of aspartoacylase (ASPA) and Canavan disease.

Sommer A, Sass JO.

Gene. 2012 Sep 1;505(2):206-10. doi: 10.1016/j.gene.2012.06.036. Epub 2012 Jun 28.

PMID:
22750302
[PubMed - indexed for MEDLINE]
6.

A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?

Glicksman S, Borgen C, Blackstein M, Gordon A, Hanon I, Kusin D, Leibowitz B, Halle J.

J Intellect Disabil Res. 2013 Sep;57(9):815-25. doi: 10.1111/j.1365-2788.2012.01576.x. Epub 2012 Jun 8. Review.

PMID:
22676184
[PubMed - indexed for MEDLINE]
7.

Radiological clue to diagnosis of Canavan disease.

Sreenivasan P, Purushothaman KK.

Indian J Pediatr. 2013 Jan;80(1):75-7. doi: 10.1007/s12098-012-0794-9. Epub 2012 Jun 2.

PMID:
22660905
[PubMed - indexed for MEDLINE]
8.

A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Eke GH, Iscan A, Cece H, Calik M.

Genet Couns. 2012;23(1):9-12.

PMID:
22611636
[PubMed - indexed for MEDLINE]
9.

Lithium citrate as treatment of Canavan disease.

Solsona MD, Fernández LL, Boquet EM, Andrés JL.

Clin Neuropharmacol. 2012 May-Jun;35(3):150-1. doi: 10.1097/WNF.0b013e3182515c9d.

PMID:
22592512
[PubMed - indexed for MEDLINE]
10.

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

Durmaz AA, Akin H, Onay H, Vahabi A, Ozkinay F.

Fetal Pediatr Pathol. 2012 Aug;31(4):236-9. doi: 10.3109/15513815.2011.650292. Epub 2012 Apr 2.

PMID:
22468686
[PubMed - indexed for MEDLINE]
11.

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.

Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5.

PMID:
22219087
[PubMed - indexed for MEDLINE]
12.

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N.

Mol Genet Metab. 2011 Dec;104(4):706-7. doi: 10.1016/j.ymgme.2011.09.031. Epub 2011 Oct 1. No abstract available.

PMID:
22019069
[PubMed - indexed for MEDLINE]
13.

Canavan disease: a novel mutation.

Schober H, Luetschg J, Hoeliner I, Kalb S, Simma B.

Pediatr Neurol. 2011 Oct;45(4):256-8. doi: 10.1016/j.pediatrneurol.2011.06.011.

PMID:
21907889
[PubMed - indexed for MEDLINE]
14.

A safety trial of high dose glyceryl triacetate for Canavan disease.

Segel R, Anikster Y, Zevin S, Steinberg A, Gahl WA, Fisher D, Staretz-Chacham O, Zimran A, Altarescu G.

Mol Genet Metab. 2011 Jul;103(3):203-6. doi: 10.1016/j.ymgme.2011.03.012. Epub 2011 Mar 15.

PMID:
21474353
[PubMed - indexed for MEDLINE]
15.

Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.

Zano S, Malik R, Szucs S, Matalon R, Viola RE.

Mol Genet Metab. 2011 Feb;102(2):176-80. doi: 10.1016/j.ymgme.2010.10.012. Epub 2010 Oct 30.

PMID:
21095151
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.

Surendran S.

Med Hypotheses. 2010 Dec;75(6):533-4. doi: 10.1016/j.mehy.2010.07.017. Epub 2010 Jul 31.

PMID:
20673702
[PubMed - indexed for MEDLINE]
17.

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

Mochel F, Boildieu N, Barritault J, Sarret C, Eymard-Pierre E, Seguin F, Schiffmann R, Boespflug-Tanguy O.

Biochim Biophys Acta. 2010 Nov;1802(11):1112-7. doi: 10.1016/j.bbadis.2010.07.005. Epub 2010 Jul 13.

PMID:
20637281
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Colaianni A, Chandrasekharan S, Cook-Deegan R.

Genet Med. 2010 Apr;12(4 Suppl):S5-S14. doi: 10.1097/GIM.0b013e3181d5a669.

PMID:
20393311
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.

Zhang H, Liu X, Gu X.

Brain Dev. 2010 Nov;32(10):879-82. doi: 10.1016/j.braindev.2010.01.001. Epub 2010 Feb 2.

PMID:
20129749
[PubMed - indexed for MEDLINE]
20.

Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease.

Assadi M, Janson C, Wang DJ, Goldfarb O, Suri N, Bilaniuk L, Leone P.

Eur J Paediatr Neurol. 2010 Jul;14(4):354-9. doi: 10.1016/j.ejpn.2009.11.006. Epub 2010 Jan 19.

PMID:
20034825
[PubMed - indexed for MEDLINE]

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