190 related articles for article (PubMed ID: 24327357)
1. 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]
2. Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Fullam S; Togher Z; Power A; Kennelly L; McHugh JC; O'Dowd S; Tubridy N; Hardiman O; Costigan D; Ryan A; Lefter S; Connolly S; Murphy SM
Eur J Neurol; 2024 Jan; 31(1):e16069. PubMed ID: 37754769
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H; Poupětová H; Jirečková J; Vlášková H; Košťálová E; Mazanec R; Zumrová A; Mečíř P; Mušová Z; Magner M
J Neurol; 2019 Aug; 266(8):1953-1959. PubMed ID: 31076878
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.
Riboldi GM; Lau H
Tremor Other Hyperkinet Mov (N Y); 2022; 12():34. PubMed ID: 36618998
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Rozenberg R; Kok F; Burin MG; Sá Miranda MC; Vasques C; Henriques-Souza AM; Giugliani R; Vainzof M; Pereira LV
J Child Neurol; 2006 Jun; 21(6):540-4. PubMed ID: 16948947
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S; Eskandari N; Aryani O; Salehpour S; Zaman T; Kamalidehghan B; Houshmand M
Iran Biomed J; 2014; 18(2):114-9. PubMed ID: 24518553
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
Májovská J; Hennig A; Nestrasil I; Schneider SA; Jahnová H; Vaněčková M; Magner M; Dušek P
Neurol Sci; 2022 May; 43(5):3273-3281. PubMed ID: 34800199
[TBL] [Abstract][Full Text] [Related]
14. Prenatal Diagnosis of Tay-Sachs Disease.
Zhang J; Chen H; Kornreich R; Yu C
Methods Mol Biol; 2019; 1885():233-250. PubMed ID: 30506202
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Late-onset Tay-Sachs disease.
Barritt AW; Anderson SJ; Leigh PN; Ridha BH
Pract Neurol; 2017 Oct; 17(5):396-399. PubMed ID: 28739864
[TBL] [Abstract][Full Text] [Related]
17. [Late onset Tay-Sachs disease may mimic adult SMA].
Praline J; Guennoc AM; Vourc'h P; Sedel F; Andres CR; Corcia P
Rev Neurol (Paris); 2011; 167(6-7):549-50. PubMed ID: 21481906
[No Abstract] [Full Text] [Related]
18. 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]
19. Late-Onset Tay-Sachs Disease in an Irish Family.
Lefter S; O' Mahony O; Sweeney B; Ryan AM
Mov Disord Clin Pract; 2021 Jan; 8(1):106-110. PubMed ID: 33426165
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
