158 related articles for article (PubMed ID: 24613245)
1. 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. PubMed ID: 24613245
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 16872651
[TBL] [Abstract][Full Text] [Related]
3. [Lysosome disease--Sandhoff disease].
Eguchi I; Wakamatsu N; Nakano R; Tsuji S
Nihon Rinsho; 1993 Sep; 51(9):2276-80. PubMed ID: 8411702
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 2147027
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
Lee EH; Park JH; Coe CJ; Hahn SH
Hum Mutat; 2000 Aug; 16(2):180-1. PubMed ID: 10923050
[No Abstract] [Full Text] [Related]
6. 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; 512(2):521-6. PubMed ID: 23046579
[TBL] [Abstract][Full Text] [Related]
7. Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I; Mahuran DJ; Salvayre R; Dubas F; Levade T
Biochim Biophys Acta; 1996 Nov; 1317(2):127-33. PubMed ID: 8950198
[TBL] [Abstract][Full Text] [Related]
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;
Gene; 2012 Sep; 506(1):25-30. PubMed ID: 22789865
[TBL] [Abstract][Full Text] [Related]
9. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
Santoro M; Modoni A; Sabatelli M; Madia F; Piemonte F; Tozzi G; Ricci E; Tonali PA; Silvestri G
Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 1386607
[TBL] [Abstract][Full Text] [Related]
11. Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.
Bikker H; van den Berg FM; Wolterman RA; Kleijer WJ; de Vijlder JJ; Bolhuis PA
Hum Genet; 1990 Aug; 85(3):327-9. PubMed ID: 1975561
[TBL] [Abstract][Full Text] [Related]
12. Specific induction of macrophage inflammatory protein 1-alpha in glial cells of Sandhoff disease model mice associated with accumulation of N-acetylhexosaminyl glycoconjugates.
Tsuji D; Kuroki A; Ishibashi Y; Itakura T; Kuwahara J; Yamanaka S; Itoh K
J Neurochem; 2005 Mar; 92(6):1497-507. PubMed ID: 15748167
[TBL] [Abstract][Full Text] [Related]
13. A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.
Gomez-Lira M; Perusi C; Brutti N; Farnetani MA; Margollicci MA; Rizzuto N; Pignatti PF; Salviati A
Hum Mutat; 1995; 6(3):260-2. PubMed ID: 8535449
[No Abstract] [Full Text] [Related]
14. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
Abiri M; Talebi S; Uitto J; Youssefian L; Vahidnezhad H; Shirzad T; Salehpour S; Zeinali S
J Pediatr Endocrinol Metab; 2016 Oct; 29(10):1215-1219. PubMed ID: 27682710
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 7633435
[No Abstract] [Full Text] [Related]
16. Metabolic correction in microglia derived from Sandhoff disease model mice.
Tsuji D; Kuroki A; Ishibashi Y; Itakura T; Itoh K
J Neurochem; 2005 Sep; 94(6):1631-8. PubMed ID: 16092933
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 9888387
[TBL] [Abstract][Full Text] [Related]
18. A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
Gomez-Lira M; Mottes M; Perusi C; Pignatti PF; Rizzuto N; Gatti R; Salviati A
Mol Cell Probes; 2001 Apr; 15(2):75-9. PubMed ID: 11292324
[TBL] [Abstract][Full Text] [Related]
19. A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Kuroki Y; Itoh K; Nadaoka Y; Tanaka T; Sakuraba H
Biochem Biophys Res Commun; 1995 Jul; 212(2):564-71. PubMed ID: 7626071
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 8076944
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]