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Lancet (London, England)|October 26, 1999
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol effluxM Marcil, A Brooks-Wilson, S M Clee, et al.
Eneurologicalsci|August 11, 2018
Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compared with CopaxoneS Melamed-Gal, P Loupe, B Timan, et al.
Nature Genetics|October 5, 2001
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2S Hadano, C K Hand, H Osuga, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 14, 2006
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalitiesR S Devon, P C Orban, K Gerrow, et al.
The Pharmacogenomics Journal|May 28, 2014
Pharmacogenomic diversity in Singaporean populations and EuropeansL R Brunham, S L Chan, R Li, et al.
The Journal of Biological Chemistry|May 16, 1998
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tractC L Wellington, L M Ellerby, A S Hackam, et al.
Cell Death and Differentiation|April 14, 1999
Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complexD M Rasper, J P Vaillancourt, S Hadano, et al.
Molecular and Cellular Probes|August 29, 2003
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory elementC F Hoogendijk, C L Scholtz, S M Pimstone, et al.
American Journal of Human Genetics|July 1, 1996
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeatsD C Rubinsztein, J Leggo, R Coles, et al.
Clinical Genetics|June 6, 2003
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000S Creighton, E W Almqvist, D MacGregor, et al.
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