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    Results: 1 to 20 of 345

    1.

    Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

    Chin E, Bean L, Coffee B, Hegde MR.

    Hum Genet. 2009 Aug;126(2):329. No abstract available. PMID: 19644708 [PubMed - indexed for MEDLINE]Related articles

    2.

    Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

    Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH.

    Genet Med. 2009 Jun;11(6):425-33.PMID: 19346952 [PubMed - indexed for MEDLINE]Related articles

    3.

    Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

    Shapiro BE, Kolodny EH, Pastores GM, Luzy C.

    J Inherit Metab Dis. 2009 Apr;32(2):310-1. No abstract available. PMID: 19240988 [PubMed - indexed for MEDLINE]Related articles

    4.

    Late-onset Tay-Sachs disease presenting as a childhood stutter.

    Shapiro BE, Natowicz MR.

    J Neurol Neurosurg Psychiatry. 2009 Jan;80(1):94-5. No abstract available. PMID: 19091716 [PubMed - indexed for MEDLINE]Related articles

    5.

    Mechanism of interrupted saccades in patients with late-onset Tay-Sachs disease.

    Optican LM, Rucker JC, Keller EL, Leigh RJ.

    Prog Brain Res. 2008;171:567-70.PMID: 18718355 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    Spontaneous appearance of Tay-Sachs disease in an animal model.

    Zeng BJ, Torres PA, Viner TC, Wang ZH, Raghavan SS, Alroy J, Pastores GM, Kolodny EH.

    Mol Genet Metab. 2008 Sep-Oct;95(1-2):59-65. Epub 2008 Aug 9.PMID: 18693054 [PubMed - indexed for MEDLINE]Related articles

    7.

    Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients.

    Shapiro BE, Logigian EL, Kolodny EH, Pastores GM.

    Muscle Nerve. 2008 Aug;38(2):1012-5.PMID: 18642377 [PubMed - indexed for MEDLINE]Related articles

    8.

    Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

    Elstein D, Doniger GM, Simon E, Korn-Lubetzki I, Navon R, Zimran A.

    J Inherit Metab Dis. 2008 Aug;31(4):518-23. Epub 2008 May 30.PMID: 18618288 [PubMed - indexed for MEDLINE]Related articles

    9.

    Structural consequences of amino acid substitutions causing Tay-Sachs disease.

    Ohno K, Saito S, Sugawara K, Sakuraba H.

    Mol Genet Metab. 2008 Aug;94(4):462-8. Epub 2008 May 19.PMID: 18490185 [PubMed - indexed for MEDLINE]Related articles

    10.

    Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

    Guetta E, Peleg L.

    Methods Mol Biol. 2008;444:147-59.PMID: 18425478 [PubMed - indexed for MEDLINE]Related articles

    11.

    Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry.

    Gu J, Tifft CJ, Soldin SJ.

    Clin Biochem. 2008 Apr;41(6):413-7. Epub 2008 Jan 17.PMID: 18241673 [PubMed - indexed for MEDLINE]Related articles

    12.

    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 Jul-Sep;49(3):337-8. No abstract available. PMID: 17990595 [PubMed - indexed for MEDLINE]Related articles

    13.

    Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.

    Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR.

    Clin Chem. 2007 Mar;53(3):392-8. Epub 2007 Jan 26.PMID: 17259242 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

    Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR.

    Neurology. 2006 Sep 12;67(5):875-7.PMID: 16966555 [PubMed - indexed for MEDLINE]Related articles

    15.

    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.PMID: 16948947 [PubMed - indexed for MEDLINE]Related articles

    16.

    Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

    Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN.

    J Mol Biol. 2006 Jun 16;359(4):913-29. Epub 2006 Apr 27.PMID: 16698036 [PubMed - indexed for MEDLINE]Related articles

    17.

    Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG.

    Neurology. 2006 Jan 24;66(2):278-80.PMID: 16434676 [PubMed - indexed for MEDLINE]Related articles

    18.

    Achalasia in a patient with adult-onset Tay-Sachs disease.

    Nathanson JW, Winans CS.

    Dig Dis Sci. 2006 Jan;51(1):132-7. No abstract available. PMID: 16416225 [PubMed - indexed for MEDLINE]Related articles

    19.

    Tay Sachs disease: an autopsy case report.

    Jadhav MV, Landge MP, Sawaimoon SK, Harke AB, Deshmukh SD.

    Indian J Pathol Microbiol. 2005 Oct;48(4):479-80.PMID: 16366100 [PubMed - indexed for MEDLINE]Related articles

    20.

    Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

    Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M.

    Mol Genet Metab. 2006 Feb;87(2):122-7. Epub 2005 Dec 13.PMID: 16352452 [PubMed - indexed for MEDLINE]Related articles

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