117 related articles for article (PubMed ID: 25860343)
1. Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
Stendel C; Gallenmüller C; Peters K; Bürger F; Gramer G; Biskup S; Klopstock T
J Neurol; 2015; 262(4):1072-3. PubMed ID: 25860343
[No Abstract] [Full Text] [Related]
2. Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.
Gowda VK; Srinivasan VM; Bhat M; Benakappa A
Indian J Pediatr; 2018 Dec; 85(12):1134-1135. PubMed ID: 30006889
[No Abstract] [Full Text] [Related]
3. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system.
Miklyaeva EI; Dong W; Bureau A; Fattahie R; Xu Y; Su M; Fick GH; Huang JQ; Igdoura S; Hanai N; Gravel RA
Brain Res; 2004 Mar; 1001(1-2):37-50. PubMed ID: 14972652
[TBL] [Abstract][Full Text] [Related]
4. Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin E; Bean L; Coffee B; Hegde MR
Hum Genet; 2009 Aug; 126(2):329. PubMed ID: 19644708
[No Abstract] [Full Text] [Related]
5. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ; Morgan C; Sharma R; Li Y; Lobo RM; Redman JB; Salazar D; Sun W; Neidich JA; Strom CM
Pediatr Res; 2010 Feb; 67(2):217-20. PubMed ID: 19858779
[TBL] [Abstract][Full Text] [Related]
6. Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A; Rezazadeh J; Shadmehri AA; Haghighi A; Kornreich R; Desnick RJ
J Hum Genet; 2011 Sep; 56(9):682-4. PubMed ID: 21796138
[TBL] [Abstract][Full Text] [Related]
7. Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Haghighi A; Masri A; Kornreich R; Desnick RJ
Mol Genet Metab; 2011 Dec; 104(4):700-2. PubMed ID: 21967858
[TBL] [Abstract][Full Text] [Related]
8. Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH; Ko JM; Kim MS; Kim MJ; Seong MW; Yoo T; Lim BC; Chae JH
Mol Genet Genomic Med; 2021 Jun; 9(6):e1677. PubMed ID: 33811753
[TBL] [Abstract][Full Text] [Related]
9. Unusual case of Juvenile Tay-Sachs disease.
Cheema HA; Waheed N; Saeed A
BMJ Case Rep; 2019 Sep; 12(9):. PubMed ID: 31519716
[TBL] [Abstract][Full Text] [Related]
10. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
Sheth J; Mistri M; Mahadevan L; Mehta S; Solanki D; Kamate M; Sheth F
BMC Med Genet; 2018 Jul; 19(1):109. PubMed ID: 29973161
[TBL] [Abstract][Full Text] [Related]
11. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.
Steiner KM; Brenck J; Goericke S; Timmann D
BMJ Case Rep; 2016 Mar; 2016():. PubMed ID: 27033294
[No Abstract] [Full Text] [Related]
12. Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M; Mehta S; Solanki D; Kamate M; Gupta N; Kabra M; Puri R; Girisha K; Hariharan S; Nampoothiri S; Sheth F; Sheth J
J Hum Genet; 2019 Oct; 64(10):985-994. PubMed ID: 31388111
[TBL] [Abstract][Full Text] [Related]
13. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Neudorfer O; Pastores GM; Zeng BJ; Gianutsos J; Zaroff CM; Kolodny EH
Genet Med; 2005 Feb; 7(2):119-23. PubMed ID: 15714079
[TBL] [Abstract][Full Text] [Related]
14. Atypical presentation of late-onset Tay-Sachs disease.
Deik A; Saunders-Pullman R
Muscle Nerve; 2014 May; 49(5):768-71. PubMed ID: 24327357
[TBL] [Abstract][Full Text] [Related]
15. In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A; Havranek B; Islam SM
Proteins; 2021 Nov; 89(11):1587-1601. PubMed ID: 34288098
[TBL] [Abstract][Full Text] [Related]
16. An inducible mouse model of late onset Tay-Sachs disease.
Jeyakumar M; Smith D; Eliott-Smith E; Cortina-Borja M; Reinkensmeier G; Butters TD; Lemm T; Sandhoff K; Perry VH; Dwek RA; Platt FM
Neurobiol Dis; 2002 Aug; 10(3):201-10. PubMed ID: 12270683
[TBL] [Abstract][Full Text] [Related]
17. Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay-Sachs Disease.
Gray-Edwards HL; Randle AN; Maitland SA; Benatti HR; Hubbard SM; Canning PF; Vogel MB; Brunson BL; Hwang M; Ellis LE; Bradbury AM; Gentry AS; Taylor AR; Wooldridge AA; Wilhite DR; Winter RL; Whitlock BK; Johnson JA; Holland M; Salibi N; Beyers RJ; Sartin JL; Denney TS; Cox NR; Sena-Esteves M; Martin DR
Hum Gene Ther; 2018 Mar; 29(3):312-326. PubMed ID: 28922945
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C; Dussau J; Azouguene E; Feillet F; Puech JP; Caillaud C
Biochem Biophys Res Commun; 2010 Feb; 392(4):599-602. PubMed ID: 20100466
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
Guetta E; Peleg L
Methods Mol Biol; 2008; 444():147-59. PubMed ID: 18425478
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]