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Items: 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.

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.

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
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
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 AMA.

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

PMID:
19685155
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
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.

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
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
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.

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
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
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
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
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
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
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
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
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
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

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