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Items: 1 to 20 of 105

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
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.

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
4.

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

Tamhankar PM, Mistri M, Kondurkar P, Sanghavi D, Sheth J.

J Hum Genet. 2016 Feb;61(2):163-6. doi: 10.1038/jhg.2015.130. Epub 2015 Nov 19.

PMID:
26582265
5.

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
6.

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
7.

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
8.

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.

9.

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Zhang W, Zeng H, Huang Y, Xie T, Zheng J, Zhao X, Sheng H, Liu H, Liu L.

Metab Brain Dis. 2016 Aug;31(4):861-7. doi: 10.1007/s11011-016-9819-9. Epub 2016 Mar 28.

PMID:
27021291
10.

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
11.

Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

Fitterer B, Hall P, Antonishyn N, Desikan R, Gelb M, Lehotay D.

Mol Genet Metab. 2014 Mar;111(3):382-389. doi: 10.1016/j.ymgme.2014.01.002. Epub 2014 Jan 13.

12.

[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].

Wu T, Li X, Wang Q, Liu Y, Ding Y, Song J, Zhang Y, Yang Y.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2013 Jul;42(4):403-10. Chinese.

PMID:
24022928
13.
14.

Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.

Kang SY, Song SK, Lee JS, Choi JC, Kang JH.

J Clin Neuromuscul Dis. 2013 Dec;15(2):47-51. doi: 10.1097/CND.0000000000000014.

PMID:
24263030
15.

[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].

Huang Y, Xie T, Zheng J, Zhao X, Liu H, Liu L.

Zhonghua Er Ke Za Zhi. 2014 Apr;52(4):313-6. Chinese.

PMID:
24915922
16.

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
17.

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.

18.

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
19.

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
20.

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.

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