PubMed

Ataxias with autosomal, X-chromosomal or maternal inheritance.

Finsterer J.

Can J Neurol Sci. 2009 Jul;36(4):409-28. Review.PMID: 19650351 [PubMed - indexed for MEDLINE]Related articles

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

Population programs for the detection of couples at risk for severe monogenic genetic diseases.

Zlotogora J.

Hum Genet. 2009 Aug;126(2):247-53. Epub 2009 Apr 24. Review.PMID: 19390864 [PubMed - indexed for MEDLINE]Related articles

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

Serial MR imaging and 1H-MR spectroscopy in monozygotic twins with Tay-Sachs disease.

Imamura A, Miyajima H, Ito R, Orii KO.

Neuropediatrics. 2008 Oct;39(5):259-63. Epub 2009 Mar 17.PMID: 19294598 [PubMed - indexed for MEDLINE]Related articles

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

Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.

Rigat B, Mahuran D.

Mol Genet Metab. 2009 Apr;96(4):225-32. Epub 2009 Jan 22.PMID: 19167257 [PubMed - indexed for MEDLINE]Related articles

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

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

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

A Drosophila protein family implicated in pheromone perception is related to Tay-Sachs GM2-activator protein.

Starostina E, Xu A, Lin H, Pikielny CW.

J Biol Chem. 2009 Jan 2;284(1):585-94. Epub 2008 Oct 24.PMID: 18952610 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

Mu TW, Ong DS, Wang YJ, Balch WE, Yates JR 3rd, Segatori L, Kelly JW.

Cell. 2008 Sep 5;134(5):769-81.PMID: 18775310 [PubMed - indexed for MEDLINE]Related articlesFree article

Lipidomics in diagnosis of lipidoses.

Wolf C, Quinn PJ.

Subcell Biochem. 2008;49:567-88. Review.PMID: 18751927 [PubMed - indexed for MEDLINE]Related articles

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

Frontal eye field signals that may trigger the brainstem saccade generator.

Keller EL, Lee BT, Lee KM.

Prog Brain Res. 2008;171:107-14.PMID: 18718288 [PubMed - indexed for MEDLINE]Related articles

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

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

Population screening for reproductive risk for single gene disorders in Australia: now and the future.

Delatycki MB.

Twin Res Hum Genet. 2008 Aug;11(4):422-30.PMID: 18637742 [PubMed - indexed for MEDLINE]Related articles

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