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Results: 1 to 20 of 133

1.

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A.

Neurogenetics. 2009 Feb;10(1):49-58. doi: 10.1007/s10048-008-0145-1. Epub 2008 Aug 29.

PMID:
18758829
[PubMed - indexed for MEDLINE]
2.

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A.

PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27.

PMID:
22848519
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.

Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C.

Gene. 2013 Jan 10;512(2):521-6. doi: 10.1016/j.gene.2012.09.124. Epub 2012 Oct 6.

PMID:
23046579
[PubMed - indexed for MEDLINE]
4.

A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.

Fitterer BB, Antonishyn NA, Hall PL, Lehotay DC.

Genet Test Mol Biomarkers. 2012 May;16(5):401-5. doi: 10.1089/gtmb.2011.0215. Epub 2011 Dec 22.

PMID:
22191674
[PubMed - indexed for MEDLINE]
5.

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.

Wang SZ, Cachón-González MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM.

Mol Genet Metab. 2008 Dec;95(4):236-8. doi: 10.1016/j.ymgme.2008.08.007. Epub 2008 Oct 18.

PMID:
18930675
[PubMed - indexed for MEDLINE]
6.

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.

Furihata K, Drousiotou A, Hara Y, Christopoulos G, Stylianidou G, Anastasiadou V, Ueno I, Ioannou P.

Hum Mutat. 1999;13(1):38-43.

PMID:
9888387
[PubMed - indexed for MEDLINE]
7.

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.

Yoshizawa T, Kohno Y, Nissato S, Shoji S.

J Neurol Sci. 2002 Mar 30;195(2):129-38.

PMID:
11897243
[PubMed - indexed for MEDLINE]
8.

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group.

Gene. 2012 Sep 10;506(1):25-30. Epub 2012 Jul 10.

PMID:
22789865
[PubMed - indexed for MEDLINE]
9.

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.

Zhang ZX, Wakamatsu N, Mules EH, Thomas GH, Gravel RA.

Hum Mol Genet. 1994 Jan;3(1):139-45.

PMID:
8162015
[PubMed - indexed for MEDLINE]
10.

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

McInnes B, Potier M, Wakamatsu N, Melancon SB, Klavins MH, Tsuji S, Mahuran DJ.

J Clin Invest. 1992 Aug;90(2):306-14.

PMID:
1386607
[PubMed - indexed for MEDLINE]
Free PMC Article
11.
12.

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.

Brown CA, McInnes B, de Kremer RD, Mahuran DJ.

Biochim Biophys Acta. 1992 Oct 13;1180(1):91-8.

PMID:
1390948
[PubMed - indexed for MEDLINE]
13.

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Neote K, McInnes B, Mahuran DJ, Gravel RA.

J Clin Invest. 1990 Nov;86(5):1524-31.

PMID:
2147027
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.

Kleiman FE, de Kremer RD, de Ramirez AO, Gravel RA, Argaraña CE.

Hum Genet. 1994 Sep;94(3):279-82.

PMID:
8076944
[PubMed - indexed for MEDLINE]
15.

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.

McInnes B, Brown CA, Mahuran DJ.

Biochim Biophys Acta. 1992 Apr 14;1138(4):315-7.

PMID:
1532910
[PubMed - indexed for MEDLINE]
16.

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition.

Noensie EN, Dietz HC.

Nat Biotechnol. 2001 May;19(5):434-9.

PMID:
11329012
[PubMed - indexed for MEDLINE]
17.

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.

Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959.

PMID:
19370764
[PubMed - indexed for MEDLINE]
18.

Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.

Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N.

J Biochem. 2013 Jan;153(1):111-9. doi: 10.1093/jb/mvs131. Epub 2012 Nov 5.

PMID:
23127958
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.

Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.

Hum Mutat. 1999;13(6):439-52.

PMID:
10408773
[PubMed - indexed for MEDLINE]
20.

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G.

Hum Genet. 1998 Oct;103(4):462-9.

PMID:
9856491
[PubMed - indexed for MEDLINE]

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