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Results: 1 to 20 of 119

1.

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.

Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.

Biochem Biophys Res Commun. 2012 Sep 21;426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089. Epub 2012 Aug 25.

PMID:
22943850
[PubMed - indexed for MEDLINE]
2.

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V.

Ann Neurol. 1998 Dec;44(6):867-72.

PMID:
9851430
[PubMed - indexed for MEDLINE]
3.

Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.

Muscle Nerve. 2008 Apr;37(4):530-6.

PMID:
17994551
[PubMed - indexed for MEDLINE]
4.

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.

Karpati M, Peleg L, Gazit E, Akstein E, Goldman B.

Clin Genet. 2000 May;57(5):398-400.

PMID:
10852376
[PubMed - indexed for MEDLINE]
5.

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M.

J Med Genet. 1991 Mar;28(3):177-80.

PMID:
1828838
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S161-8. doi: 10.1007/s10545-009-1134-8. Epub 2009 Apr 8.

PMID:
19357989
[PubMed - indexed for MEDLINE]
7.

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Myerowitz R, Costigan FC.

J Biol Chem. 1988 Dec 15;263(35):18587-9.

PMID:
2848800
[PubMed - indexed for MEDLINE]
Free Article
8.

Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.

Parvari R, Shen J, Hershkovitz E, Chen YT, Moses SW.

J Inherit Metab Dis. 1998 Apr;21(2):141-8.

PMID:
9584265
[PubMed - indexed for MEDLINE]
9.
10.

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.

Shore S, Tomczak J, Grebner EE, Myerowitz R.

Hum Mutat. 1992;1(6):486-90.

PMID:
1301958
[PubMed - indexed for MEDLINE]
11.

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E.

Am J Hum Genet. 1991 Oct;49(4):855-9.

PMID:
1897529
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Navon R, Kolodny EH, Mitsumoto H, Thomas GH, Proia RL.

Am J Hum Genet. 1990 Apr;46(4):817-21.

PMID:
2278539
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.

Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.

PMID:
23266647
[PubMed - indexed for MEDLINE]
14.

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program.

Rozenberg R, Pereira Lda V.

Sao Paulo Med J. 2001 Jul 5;119(4):146-9.

PMID:
11500789
[PubMed - indexed for MEDLINE]
Free Article
15.

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA.

N Engl J Med. 1990 Jul 5;323(1):6-12.

PMID:
2355960
[PubMed - indexed for MEDLINE]
Free Article
16.

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.

Myerowitz R, Hogikyan ND.

Science. 1986 Jun 27;232(4758):1646-8.

PMID:
3754980
[PubMed - indexed for MEDLINE]
17.

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.

Eur J Hum Genet. 1997 Sep-Oct;5(5):266-70.

PMID:
9412782
[PubMed - indexed for MEDLINE]
18.

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.

Roa BB, Savino CV, Richards CS.

Genet Test. 1999;3(2):219-21.

PMID:
10464671
[PubMed - indexed for MEDLINE]
19.

Cystic fibrosis in Jews: frequency and mutation distribution.

Kerem B, Chiba-Falek O, Kerem E.

Genet Test. 1997;1(1):35-9. Review.

PMID:
10464623
[PubMed - indexed for MEDLINE]
20.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ.

Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Review.

PMID:
22305237
[PubMed - indexed for MEDLINE]
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