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Items: 1 to 20 of 102

1.

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.

Ahn SW, Kim SH, Hong YH, Lee KW, Sung JJ.

Neurol India. 2010 Nov-Dec;58(6):950-1. doi: 10.4103/0028-3886.73755. No abstract available.

2.
3.

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
4.

[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
5.

A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).

Rahman MM, Chang HS, Mizukami K, Hossain MA, Yabuki A, Tamura S, Kitagawa M, Mitani S, Higo T, Uddin MM, Uchida K, Yamato O.

Vet J. 2012 Dec;194(3):412-6. doi: 10.1016/j.tvjl.2012.05.021. Epub 2012 Jul 4.

PMID:
22766310
6.

[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
7.

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.

8.

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
9.
10.

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations.

Lee HF, Chi CS, Tsai CR.

Brain Dev. 2017 Feb;39(2):171-176. doi: 10.1016/j.braindev.2016.09.006. Epub 2016 Sep 30.

PMID:
27697305
11.

Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.

Hara A, Uyama E, Uchino M, Shimmoto M, Utsumi K, Itoh K, Kase R, Naito M, Sugiyama E, Taketomi T, Sukegawa K, Sakuraba H.

J Neurol Sci. 1998 Feb 18;155(1):86-91.

PMID:
9562328
12.
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.

14.

Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.

Kanae Y, Endoh D, Yamato O, Hayashi D, Matsunaga S, Ogawa H, Maede Y, Hayashi M.

Res Vet Sci. 2007 Feb;82(1):54-60. Epub 2006 Jul 26.

PMID:
16872651
15.

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ.

J Biol Chem. 1986 Sep 25;261(27):12680-5.

17.

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

Masri A, Liao J, Kornreich R, Haghighi A.

Eur J Paediatr Neurol. 2014 May;18(3):399-403. doi: 10.1016/j.ejpn.2014.02.002. Epub 2014 Feb 21.

PMID:
24613245
18.

Pre-embryonic diagnosis for Sandhoff disease.

Kuliev A, Rechitsky S, Laziuk K, Verlinsky O, Tur-Kaspa I, Verlinsky Y.

Reprod Biomed Online. 2006 Mar;12(3):328-33.

PMID:
16569321
19.

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

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

Hum Mol Genet. 1995 Apr;4(4):777-80. No abstract available.

PMID:
7633435
20.

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Delnooz CC, Lefeber DJ, Langemeijer SM, Hoffjan S, Dekomien G, Zwarts MJ, Van Engelen BG, Wevers RA, Schelhaas HJ, van de Warrenburg BP.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):968-72. doi: 10.1136/jnnp.2009.177089.

PMID:
20798201

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