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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: tomiyama m. 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.
Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.
Zhu G, Okada M, Yoshida S, Ueno S, Mori F, Takahara T, Saito R, Miura Y, Kishi A, Tomiyama M, Sato A, Kojima T, Fukuma G, Wakabayashi K, Hase K, Ohno H, Kijima H, Takano Y, Mitsudome A, Kaneko S, Hirose S. Zhu G, et al. Among authors: tomiyama m. J Neurosci. 2008 Nov 19;28(47):12465-76. doi: 10.1523/JNEUROSCI.2961-08.2008. J Neurosci. 2008. PMID: 19020039 Free PMC article.
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: tomiyama m. Intern Med. 2008;47(24):2179-82. doi: 10.2169/internalmedicine.47.1499. Epub 2008 Dec 15. Intern Med. 2008. PMID: 19075547 Free article.
255 results