95 related articles for article (PubMed ID: 27033294)
21. Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Yoo HW; Astrin KH; Desnick RJ
J Korean Med Sci; 1993 Feb; 8(1):84-91. PubMed ID: 8343225
[TBL] [Abstract][Full Text] [Related]
22. Late-Onset Tay-Sachs Disease - expanding the clinical phenotype.
Lefter S; Ryan AM
Tremor Other Hyperkinet Mov (N Y); 2023; 13():4. PubMed ID: 36789172
[No Abstract] [Full Text] [Related]
23. [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]
24. An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease.
Shore S; Tomczak J; Grebner EE; Myerowitz R
Hum Mutat; 1992; 1(6):486-90. PubMed ID: 1301958
[TBL] [Abstract][Full Text] [Related]
25. Pedigree discriminant analysis of two French Canadian Tay-Sachs families.
Keats BJ; Elston RC; Andermann E
Genet Epidemiol; 1987; 4(2):77-85. PubMed ID: 2953646
[TBL] [Abstract][Full Text] [Related]
26. Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.
Liu Z; Zhao R
Stem Cell Res; 2016 Sep; 17(2):289-291. PubMed ID: 27879213
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
Boustany RM; Tanaka A; Nishimoto J; Suzuki K
Ann Neurol; 1991 Jan; 29(1):104-7. PubMed ID: 1996872
[TBL] [Abstract][Full Text] [Related]
29. The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Hussain A; Armistead J; Gushulak L; Kruck C; Pind S; Triggs-Raine B; Natowicz MR
Biochem Biophys Res Commun; 2012 Sep; 426(2):286-8. PubMed ID: 22943850
[TBL] [Abstract][Full Text] [Related]
30. The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.
Tanaka A; Sakuraba H; Isshiki G; Suzuki K
Biochem Biophys Res Commun; 1993 Apr; 192(2):539-46. PubMed ID: 8484765
[TBL] [Abstract][Full Text] [Related]
31. A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Akerman BR; Zielenski J; Triggs-Raine BL; Prence EM; Natowicz MR; Lim-Steele JS; Kaback MM; Mules EH; Thomas GH; Clarke JT
Hum Mutat; 1992; 1(4):303-9. PubMed ID: 1301938
[TBL] [Abstract][Full Text] [Related]
32. A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Trop I; Kaplan F; Brown C; Mahuran D; Hechtman P
Hum Mutat; 1992; 1(1):35-9. PubMed ID: 1301189
[TBL] [Abstract][Full Text] [Related]
33. [Tay-Sachs disease in non-Jewish infant in Israel].
Nadim N
Harefuah; 2012 Jan; 151(1):16-7, 63. PubMed ID: 22670494
[TBL] [Abstract][Full Text] [Related]
34. A G to C transversion in codon 258 of the alpha-subunit of beta-hexosaminidase A in an infant Tay-Sachs disease patient.
Brewer KK
Hum Mutat; 1993; 2(6):496-7. PubMed ID: 8111418
[No Abstract] [Full Text] [Related]
35. Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
Tanaka A; Fujimaru M; Choeh K; Isshiki G
J Hum Genet; 1999; 44(2):91-5. PubMed ID: 10083731
[TBL] [Abstract][Full Text] [Related]
36. GM2 gangliosidosis in British Jacob sheep.
Wessels ME; Holmes JP; Jeffrey M; Jackson M; Mackintosh A; Kolodny EH; Zeng BJ; Wang CB; Scholes SF
J Comp Pathol; 2014; 150(2-3):253-7. PubMed ID: 24309906
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.
Drucker L; Navon R
Hum Mutat; 1993; 2(5):415-7. PubMed ID: 8257995
[No Abstract] [Full Text] [Related]
39. Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population.
Sinici I; Onder E; Topçu M; Ozkara HA
Turk J Pediatr; 2007; 49(3):337-8. PubMed ID: 17990595
[No Abstract] [Full Text] [Related]
40. [Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)].
Okada S; Taniike M
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):394-6. PubMed ID: 9645090
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
