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

Year Number of Results
1952 1
1974 1
1975 1
1976 1
1979 1
1980 2
1981 2
1982 4
1983 1
1984 5
1985 1
1986 2
1987 1
1988 2
1989 1
1990 6
1991 1
1992 5
1993 7
1994 2
1995 3
1996 1
1997 4
1998 1
1999 1
2000 1
2001 3
2002 4
2003 3
2004 4
2005 2
2006 4
2007 1
2008 4
2009 1
2010 5
2011 1
2012 1
2013 3
2014 5
2015 3
2016 1
2017 1
2018 2
2019 4
2020 3
2021 2
2022 3
2023 3
2024 0

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112 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.
Identification of these mutations has permitted more accurate carrier information, prenatal diagnosis, and disease prognosis. In conjunction with a precise tertiary structure of the enzyme, these mutations could be used to gain insight into the structure-function relations …
Identification of these mutations has permitted more accurate carrier information, prenatal diagnosis, and disease prognosis. In conj …
Lipids as Emerging Biomarkers in Neurodegenerative Diseases.
Wei J, Wong LC, Boland S. Wei J, et al. Int J Mol Sci. 2023 Dec 21;25(1):131. doi: 10.3390/ijms25010131. Int J Mol Sci. 2023. PMID: 38203300 Free PMC article. Review.
Finally, we discuss the challenges and opportunities of lipid biomarkers and biomarker panels in diagnosis, prognosis, and/or treatment response in the clinic....
Finally, we discuss the challenges and opportunities of lipid biomarkers and biomarker panels in diagnosis, prognosis, and/or treatme …
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Cachon-Gonzalez MB, et al. Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. Curr Gene Ther. 2018. PMID: 29618308 Free PMC article. Review.
Hitherto, none of these stratagems has materially altered the course of the disease. Authentic animal models of GM2 gangliodidosis have facilitated in-depth evaluation of innovative applications such as gene transfer, which in contrast to other interventions, shows great p …
Hitherto, none of these stratagems has materially altered the course of the disease. Authentic animal models of GM2 gangliodidosis ha …
The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.
Mahuran DJ, Triggs-Raine BL, Feigenbaum AJ, Gravel RA. Mahuran DJ, et al. Clin Biochem. 1990 Oct;23(5):409-15. doi: 10.1016/0009-9120(90)90153-l. Clin Biochem. 1990. PMID: 2147596 Review.
Although the DNA-based test is presently less economical, it can provide carrier couples with their exact genotype and thus, predict the general phenotype of an unborn child. Furthermore, as the catalogue of mutations leading to human disease increases, more economical DNA …
Although the DNA-based test is presently less economical, it can provide carrier couples with their exact genotype and thus, predict …
Inborn errors of metabolism.
Kolodny EH, Cable WJ. Kolodny EH, et al. Ann Neurol. 1982 Mar;11(3):221-32. doi: 10.1002/ana.410110302. Ann Neurol. 1982. PMID: 6807191 Review.
Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling....
Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling....
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. Májovská J, et al. Neurol Sci. 2022 May;43(5):3273-3281. doi: 10.1007/s10072-021-05757-3. Epub 2021 Nov 20. Neurol Sci. 2022. PMID: 34800199
Mild corpus callosum thinning (37.5%), mild cortical atrophy (18.8%), and white matter T2 hyperintensities (12.5%) were also present. CONCLUSION: Given the characteristic clinical course and MRI findings of the pontocerebellar atrophy, late-onset Tay-Sachs disease should b …
Mild corpus callosum thinning (37.5%), mild cortical atrophy (18.8%), and white matter T2 hyperintensities (12.5%) were also present. CONCLU …
Ashkenazi Jewish genetic disorders.
Charrow J. Charrow J. Fam Cancer. 2004;3(3-4):201-6. doi: 10.1007/s10689-004-9545-z. Fam Cancer. 2004. PMID: 15516842 Review.
Sphingolipidoses in Turkey.
Ozkara HA, Topçu M. Ozkara HA, et al. Brain Dev. 2004 Sep;26(6):363-6. doi: 10.1016/j.braindev.2003.09.006. Brain Dev. 2004. PMID: 15275696
112 results