Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

IFNβ lowers MMP-9/TIMP-1 ratio, which predicts new enhancing lesions in patients with SPMS

Emmanuelle Waubant, D Goodkin, Alan Bostrom et al. · Neurology · 2003 · 104 citations

Medicine, Neurology, Radiology +17

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Barry H. Paw, Michael M. Kaback, Elizabeth F. Neufeld · Proceedings of the National Academy of Sciences · 1989 · 100 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.

Patricia I. Rosebush, Glenda MacQueen, Joe T.R. Clarke et al. · PubMed · 1995 · 58 citations

Medicine, Neurology, Psychiatry +16

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Ruth Navon, Edwin H. Kolodny, Hiroshi Mitsumoto et al. · PubMed · 1990 · 51 citations

Life Sciences, Genetics, Molecular Genetics +12

Brain imaging in late‐onset GM ₂ gangliosidosis

Jonathan Y. Streifler, Michael Gornish, Herzlia Hadar et al. · Neurology · 1993 · 46 citations

Medicine, Neurology, Neuroscience +17