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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 2
1964 1
1965 1
1966 1
1967 2
1972 1
1973 2
1974 1
1975 2
1979 8
1980 1
1981 3
1982 6
1983 2
1984 4
1985 2
1986 2
1987 2
1988 1
1989 2
1990 6
1991 6
1992 3
1993 4
1994 3
1995 10
1996 5
1997 3
1998 11
1999 8
2000 2
2001 7
2002 4
2003 3
2004 4
2005 4
2006 6
2007 3
2008 4
2009 2
2013 3
2014 3
2015 2
2016 4
2017 3
2018 3
2019 3
2020 4
2021 3
2022 1
2023 4
2024 3

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175 results

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Page 1
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R. Myerowitz R. Hum Mutat. 1997;9(3):195-208. doi: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9090523 Review.
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. ...Six nonsense mutations and 14 splice site lesions result from single base substitutions, and all but one of the splice site lesions cause a severe form of Tay …
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. ...Six nonsense mutations an …
Tay-Sachs disease.
Fernandes Filho JA, Shapiro BE. Fernandes Filho JA, et al. Arch Neurol. 2004 Sep;61(9):1466-8. doi: 10.1001/archneur.61.9.1466. Arch Neurol. 2004. PMID: 15364698 Review. No abstract available.
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Shaimardanova AA, et al. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627. Int J Mol Sci. 2023. PMID: 36835039 Free PMC article. Review.
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leuko …
This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs d …
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ. Leal AF, et al. Int J Mol Sci. 2020 Aug 27;21(17):6213. doi: 10.3390/ijms21176213. Int J Mol Sci. 2020. PMID: 32867370 Free PMC article. Review.
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes encoding for the beta-hexosaminidases subunits or the GM2 activator protein. Three GM2 gangliosidoses have been described: Tay-Sac …
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside accumulation into the lysosome due to mutations on the genes …
The Health Belief Model: a decade later.
Janz NK, Becker MH. Janz NK, et al. Health Educ Q. 1984 Spring;11(1):1-47. doi: 10.1177/109019818401100101. Health Educ Q. 1984. PMID: 6392204 Review.
Gangliosidoses.
Patterson MC. Patterson MC. Handb Clin Neurol. 2013;113:1707-8. doi: 10.1016/B978-0-444-59565-2.00039-3. Handb Clin Neurol. 2013. PMID: 23622392 Review.
The GM1 gangliosidoses are characterized by dysostosis, organomegaly and coarsening in their most severe forms, whereas children with classic infantile GM2 gangliosidosis (Tay-Sachs disease) are usually spared systemic involvement, except in the case of the S …
The GM1 gangliosidoses are characterized by dysostosis, organomegaly and coarsening in their most severe forms, whereas children with classi …
Tay-Sachs disease.
Gelbart M. Gelbart M. Nurs Times. 1998 Mar 18-24;94(11):39. Nurs Times. 1998. PMID: 9697531 Review. No abstract available.
Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M. Lew RM, et al. J Paediatr Child Health. 2015 Mar;51(3):271-9. doi: 10.1111/jpc.12632. Epub 2014 Jun 13. J Paediatr Child Health. 2015. PMID: 24923490 Review.
Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. ...
Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has l …
Biochemistry and genetics of Tay-Sachs disease.
Gravel RA, Triggs-Raine BL, Mahuran DJ. Gravel RA, et al. Can J Neurol Sci. 1991 Aug;18(3 Suppl):419-23. doi: 10.1017/s0317167100032583. Can J Neurol Sci. 1991. PMID: 1834320 Review.
Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. ...The cataloguing of mutations has important implications for carrier screening and prenatal diagnosis for Tay-Sachs disease....
Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. ...The cataloguing of mutations has imp …
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein N, Henneman L, Kai J, Qureshi N. Hussein N, et al. Cochrane Database Syst Rev. 2021 Oct 11;10(10):CD010849. doi: 10.1002/14651858.CD010849.pub4. Cochrane Database Syst Rev. 2021. PMID: 34634131 Free PMC article. Review.
The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in high-risk populations of specific ancestral backgrounds. ...However, after assessment, we found no …
The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs …
175 results