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Items: 1 to 20 of 125

1.

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
2.

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
3.

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.

J Inherit Metab Dis. 2002 Nov;25(7):557-70.

PMID:
12638939
4.

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

Unalp A, Altiok E, Uran N, Oztürk A, Yüksel S.

J Trop Pediatr. 2008 Jun;54(3):208-10. Epub 2007 Nov 12.

PMID:
17999961
5.

Canavan disease: mutations among Jewish and non-Jewish patients.

Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.

Am J Hum Genet. 1994 Jul;55(1):34-41.

6.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.

Am J Hum Genet. 1996 Jul;59(1):95-102.

7.

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Rady PL, Penzien JM, Vargas T, Tyring SK, Matalon R.

Eur J Paediatr Neurol. 2000;4(1):27-30.

PMID:
10701101
8.

Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.

Eur J Hum Genet. 2000 Jul;8(7):557-60.

9.

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Kaul R, Gao GP, Balamurugan K, Matalon R.

Nat Genet. 1993 Oct;5(2):118-23.

PMID:
8252036
10.

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
11.

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.

Matalon RM, Michals-Matalon K.

Front Biosci. 2000 Mar 1;5:D307-11. Review.

PMID:
10704428
12.

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A.

Am J Hum Genet. 1994 Aug;55(2):287-8.

13.

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
14.

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

Elpeleg ON, Shaag A.

J Inherit Metab Dis. 1999 Jun;22(4):531-4.

PMID:
10407784
15.

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.

Elpeleg ON, Shaag A, Anikster Y, Jakobs C.

J Inherit Metab Dis. 1994;17(6):664-6.

PMID:
7707689
16.
17.

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH.

Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. No abstract available.

PMID:
16802711
18.

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.

Am J Hum Genet. 1995 Sep;57(3):572-80.

19.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Olsen TR, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, Møller C, Nilssen O.

J Med Genet. 2002 Sep;39(9):e55. No abstract available.

20.

Canavan disease: a monogenic trait with complex genomic interaction.

Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):74-80. Review. Erratum in: Mol Genet Metab. 2006 Mar;87(3):279.

PMID:
14567959

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