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A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
Suzuki C, Watanabe M, Tomiyama M, Sugimoto K, Nanba E, Jackson M, Kimura T, Seino Y, Wakasaya Y, Kawarabayashi T, Miki Y, Yamamoto-Watanabe Y, Shoji M. Suzuki C, et al. Among authors: miki y. Eur Neurol. 2008;60(6):310-1. doi: 10.1159/000159928. Epub 2008 Oct 3. Eur Neurol. 2008. PMID: 18832844 Free article. No abstract available.
A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
Watanabe M, Monai N, Jackson M, Yamamoto-Watanabe Y, Ikeda Y, Suzuki C, Tomiyama M, Kawarabayashi T, Kimura T, Seino Y, Wakasaya Y, Miki Y, Matsubara E, Shoji M. Watanabe M, et al. Among authors: miki y. Intern Med. 2008;47(24):2179-82. doi: 10.2169/internalmedicine.47.1499. Epub 2008 Dec 15. Intern Med. 2008. PMID: 19075547 Free article.
1,483 results