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    Results: 1 to 20 of 24

    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.

    Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.

    Rountree JS, Butters TD, Wormald MR, Boomkamp SD, Dwek RA, Asano N, Ikeda K, Evinson EL, Nash RJ, Fleet GW.

    ChemMedChem. 2009 Mar;4(3):378-92.PMID: 19145603 [PubMed - indexed for MEDLINE]Related articles

    4.

    Thalamic changes in Tay-Sachs' disease.

    Sharma S, Sankhyan N, Kalra V, Garg A.

    Arch Neurol. 2008 Dec;65(12):1669. No abstract available. PMID: 19064759 [PubMed - indexed for MEDLINE]Related articles

    5.

    Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease.

    Baek RC, Martin DR, Cox NR, Seyfried TN.

    Lipids. 2009 Mar;44(3):197-205. Epub 2008 Nov 26.PMID: 19034545 [PubMed - indexed for MEDLINE]Related articles

    6.

    A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.

    Wang SZ, Cachón-González MB, Stein PE, Lachmann RH, Corry PC, Wraith JE, Cox TM.

    Mol Genet Metab. 2008 Dec;95(4):236-8. Epub 2008 Oct 18.PMID: 18930675 [PubMed - indexed for MEDLINE]Related articles

    7.

    Neuropathology of chronic GM2 gangliosidosis due to hexosaminidase A deficiency.

    Kornfeld M.

    Clin Neuropathol. 2008 Sep-Oct;27(5):302-8.PMID: 18808061 [PubMed - indexed for MEDLINE]Related articles

    8.

    Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

    Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A.

    Neurogenetics. 2009 Feb;10(1):49-58. Epub 2008 Aug 29.PMID: 18758829 [PubMed - indexed for MEDLINE]Related articles

    9.

    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

    10.

    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

    11.

    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

    12.

    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

    13.

    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

    14.

    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

    15.

    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

    16.

    The "cherry red" spot.

    Leavitt JA, Kotagal S.

    Pediatr Neurol. 2007 Jul;37(1):74-5. No abstract available. PMID: 17628229 [PubMed - indexed for MEDLINE]Related articles

    17.

    Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

    Wilken B, Dechent P, Hanefeld F, Frahm J.

    Eur J Paediatr Neurol. 2008 Jan;12(1):56-60. Epub 2007 Jul 10.PMID: 17625939 [PubMed - indexed for MEDLINE]Related articles

    18.

    Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

    Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P.

    Reprod Biomed Online. 2007 Jul;15(1):83-8.PMID: 17623543 [PubMed - indexed for MEDLINE]Related articles

    19.

    Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.

    Akeboshi H, Chiba Y, Kasahara Y, Takashiba M, Takaoka Y, Ohsawa M, Tajima Y, Kawashima I, Tsuji D, Itoh K, Sakuraba H, Jigami Y.

    Appl Environ Microbiol. 2007 Aug;73(15):4805-12. Epub 2007 Jun 8.PMID: 17557860 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    When an inhibitor promotes activity.

    Bouvier M.

    Chem Biol. 2007 Mar;14(3):241-2. No abstract available. PMID: 17379138 [PubMed - indexed for MEDLINE]Related articles

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