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Results: 1 to 20 of 39

1.

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
2.

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.

Arun P, Madhavarao CN, Moffett JR, Hamilton K, Grunberg NE, Ariyannur PS, Gahl WA, Anikster Y, Mog S, Hallows WC, Denu JM, Namboodiri AM.

J Inherit Metab Dis. 2010 Jun;33(3):195-210. doi: 10.1007/s10545-010-9100-z. Epub 2010 May 13.

PMID:
20464498
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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]
4.

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

ACOG Committee on Genetics.

Obstet Gynecol. 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4.

PMID:
19888064
[PubMed - indexed for MEDLINE]
5.

Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.

Madhavarao CN, Arun P, Anikster Y, Mog SR, Staretz-Chacham O, Moffett JR, Grunberg NE, Gahl WA, Namboodiri AM.

J Inherit Metab Dis. 2009 Oct;32(5):640-50. doi: 10.1007/s10545-009-1155-3. Epub 2009 Aug 15.

PMID:
19685155
[PubMed - indexed for MEDLINE]
6.

Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kurdi W, Imtiaz F, Ahmad AM, Al-Sayed M, Tulbah M, Al-Nemer M, Rashed MS.

Prenat Diagn. 2009 May;29(5):477-80. doi: 10.1002/pd.2223.

PMID:
19235826
[PubMed - indexed for MEDLINE]
7.

Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.

Traka M, Wollmann RL, Cerda SR, Dugas J, Barres BA, Popko B.

J Neurosci. 2008 Nov 5;28(45):11537-49. doi: 10.1523/JNEUROSCI.1490-08.2008.

PMID:
18987190
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF.

Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097GIM.0b013e31818337a8.

PMID:
18978679
[PubMed - indexed for MEDLINE]
9.

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M.

Prenat Diagn. 2008 Mar;28(3):236-41. doi: 10.1002/pd.1943.

PMID:
18264947
[PubMed - indexed for MEDLINE]
10.

Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN Jr.

Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):456-61. Epub 2006 Dec 28.

PMID:
17194761
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):156-63. Epub 2006 Jul 18.

PMID:
16854607
[PubMed - indexed for MEDLINE]
12.

Immune responses to AAV in a phase I study for Canavan disease.

McPhee SW, Janson CG, Li C, Samulski RJ, Camp AS, Francis J, Shera D, Lioutermann L, Feely M, Freese A, Leone P.

J Gene Med. 2006 May;8(5):577-88.

PMID:
16532510
[PubMed - indexed for MEDLINE]
13.

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores G, Torres P, Assadi M, McPhee S, Goldfarb O, Saslow B, Freese A, Wang DJ, Bilaniuk L, Shera D, Leone P.

Ann Neurol. 2006 Feb;59(2):428-31.

PMID:
16437572
[PubMed - indexed for MEDLINE]
14.

Atypical MRI findings in Canavan disease: a patient with a mild course.

Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C, van der Knaap MS.

Neuropediatrics. 2005 Oct;36(5):336-9.

PMID:
16217711
[PubMed - indexed for MEDLINE]
15.

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.

Neuropediatrics. 2005 Aug;36(4):252-5.

PMID:
16138249
[PubMed - indexed for MEDLINE]
16.

Preimplantation genetic diagnosis of Canavan disease.

Yaron Y, Schwartz T, Mey-Raz N, Amit A, Lessing JB, Malcov M.

Fetal Diagn Ther. 2005 Sep-Oct;20(5):465-8.

PMID:
16113575
[PubMed - indexed for MEDLINE]
17.

Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease.

Surendran S, Shihabuddin LS, Clarke J, Taksir TV, Stewart GR, Parsons G, Yang W, Tyring SK, Michals-Matalon K, Matalon R.

Brain Res Dev Brain Res. 2004 Oct 15;153(1):19-27.

PMID:
15464214
[PubMed - indexed for MEDLINE]
18.

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL.

Am J Med Genet A. 2004 Jan 15;124A(2):142-7.

PMID:
14699612
[PubMed - indexed for MEDLINE]
19.

Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.

Surendran S, Bamforth FJ, Chan A, Tyring SK, Goodman SI, Matalon R.

J Child Neurol. 2003 Nov;18(11):809-12.

PMID:
14696913
[PubMed - indexed for MEDLINE]
20.

Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease).

Breitbach-Faller N, Schrader K, Rating D, Wunsch R.

Neuropediatrics. 2003 Apr;34(2):96-9.

PMID:
12776232
[PubMed - indexed for MEDLINE]

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