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

Year Number of Results
1911 1
1912 1
1915 1
1917 1
1922 3
1923 1
1929 1
1936 1
1945 1
1946 3
1947 4
1948 2
1950 5
1951 7
1952 11
1953 10
1954 14
1955 11
1956 11
1957 15
1958 22
1959 15
1960 15
1961 17
1962 26
1963 50
1964 51
1965 27
1966 9
1967 9
1968 10
1969 14
1970 12
1971 25
1972 16
1973 27
1974 33
1975 32
1976 29
1977 53
1978 41
1979 39
1980 43
1981 41
1982 34
1983 39
1984 45
1985 37
1986 25
1987 23
1988 28
1989 24
1990 46
1991 42
1992 42
1993 42
1994 27
1995 40
1996 26
1997 34
1998 32
1999 25
2000 19
2001 43
2002 22
2003 27
2004 28
2005 25
2006 23
2007 19
2008 24
2009 20
2010 26
2011 24
2012 23
2013 19
2014 34
2015 23
2016 27
2017 25
2018 25
2019 28
2020 34
2021 43
2022 20
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1,909 results
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Page 1
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.
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. ...Because these mutations cripple the catalytic activity of beta-hexosaminidase to varying degrees, Tay-Sachs disease displays clinical heterogene …
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. ...Because these mutations c …
Prenatal Diagnosis of Tay-Sachs Disease.
Zhang J, Chen H, Kornreich R, Yu C. Zhang J, et al. Methods Mol Biol. 2019;1885:233-250. doi: 10.1007/978-1-4939-8889-1_16. Methods Mol Biol. 2019. PMID: 30506202
Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G(M2) gangliosides. Infantile TSD is a devastatin …
Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resul …
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Vu M, Li R, Baskfield A, Lu B, Farkhondeh A, Gorshkov K, Motabar O, Beers J, Chen G, Zou J, Espejo-Mojica AJ, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA, Jiang X, Ory DS, Marugan JJ, Zheng W. Vu M, et al. Orphanet J Rare Dis. 2018 Sep 17;13(1):152. doi: 10.1186/s13023-018-0886-3. Orphanet J Rare Dis. 2018. PMID: 30220252 Free PMC article.
BACKGROUND: Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes beta-hexosaminidase. ...CONCLUSION: Our results demonstrate that the Tay-Sachs dis …
BACKGROUND: Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the …
[Tay-Sachs disease].
Tanaka A. Tanaka A. Nihon Rinsho. 1993 Sep;51(9):2281-5. Nihon Rinsho. 1993. PMID: 8411703 Review. Japanese.
In the severest phenotype of Tay-Sachs disease (infantile form), mRNA of beta-hexosaminidase alpha subunit is not produced or is unstable such as in French Canadian patients or in Jewish patients with infantile Tay-Sachs disease, or the p …
In the severest phenotype of Tay-Sachs disease (infantile form), mRNA of beta-hexosaminidase alpha subunit is not produ …
[Tay-Sachs disease].
Itoh T, Miura AB. Itoh T, et al. Ryoikibetsu Shokogun Shirizu. 1998;(22 Pt 3):389-92. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9851170 Review. Japanese. No abstract available.
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.
Natural history of Tay-Sachs disease in sheep.
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, Johnson S, Fernau D, Diffie E, Cuddon P, Corado C, Chandra S, Sena-Esteves M, Kolodny E, Jiang X, Martin D, Gray-Edwards H. Story B, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):164-174. doi: 10.1016/j.ymgme.2021.08.009. Epub 2021 Aug 21. Mol Genet Metab. 2021. PMID: 34456134
Tay-Sachs disease (TSD) is a fatal neurodegenerative disease caused by a deficiency of the enzyme beta-N-acetylhexosaminidase A (HexA). ...Increased GM2 ganglioside in the CSF of TSD sheep and a TSD specific biomarker on MRS (taurine) correlate with …
Tay-Sachs disease (TSD) is a fatal neurodegenerative disease caused by a deficiency of the enzyme beta-N-acetylh …
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Bibi F, Ullah A, Bourinaris T, Efthymiou S, Kriouile Y, Sultan T, Haider S, Salpietro V, Houlden H, Kaukab Raja G. Bibi F, et al. Klin Padiatr. 2021 Sep;233(5):226-230. doi: 10.1055/a-1371-1561. Epub 2021 Apr 8. Klin Padiatr. 2021. PMID: 33831955 English.
BACKGROUND: Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruction of nerve cells in the brain and spinal cord. ...CONCLUSION: Our study further expands the ethnic and mutational spectrum of Tay- …
BACKGROUND: Tay-Sachs disease (TSD) is a rare autosomalrecessive genetic disorder characterized by progressive destruct …
Tay-Sachs' disease.
CUMINGS JN. CUMINGS JN. Dev Med Child Neurol. 1963 Jun;5:294-6. Dev Med Child Neurol. 1963. PMID: 14024224 No abstract available.
1,909 results