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Early onset muscular dystrophy with autosomal dominant heredity : report of a family and CT findings of skeletal muscleTOHYAMA, J; INAGAKI, M; NONAKA, I et al.Brain & development (Tokyo. 1979). 1994, Vol 16, Num 5, pp 402-406, issn 0387-7604Article

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency : identification of point mutations in Japanese patients with Lesch-Nyhan syndrome nd hereditary gout and their permanent expression in an HPRT-deficient mouse cell lineTOHYAMA, J; NANBA, E; OHNO, K et al.Human genetics. 1994, Vol 93, Num 2, pp 175-181, issn 0340-6717Article

Type C Niemann-Pick disease : detection and quantification of cholesterol-accumulating cells in bone marrowTOHYAMA, J; KATO, M; KOEDA, T et al.Brain & development (Tokyo. 1979). 1993, Vol 15, Num 4, pp 316-317, issn 0387-7604Conference Paper

Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis : a variant of Lowry-Wood syndrome ?YAMAMOTO, T; TOHYAMA, J; KOEDA, T et al.American journal of medical genetics. 1995, Vol 56, Num 1, pp 6-9, issn 0148-7299Article

Intracranial calcification in siblings with nephrogenic diabetes insipidus : CT and MRITOHYAMA, J; INAGAKI, M; KOEDA, T et al.Neuroradiology (Berlin. Print). 1993, Vol 35, Num 7, pp 553-555, issn 0028-3940Article

Clinical and neuroradiologic findings of congenital hydrocephalus in infant born to mother with HTLV-I-associated myelopathyTOHYAMA, J; KAWAHARA, H; IMAGAKI, M et al.Neurology. 1992, Vol 42, Num 7, pp 1406-1408, issn 0028-3878Article

Postpuncture CSF leakage: A potential pitfall of radionuclide cisternographySAKURAI, K; NISHIO, M; SASAKI, S et al.Neurology. 2010, Vol 75, Num 19, pp 1730-1734, issn 0028-3878, 5 p.Article

Paradoxical influence of acid β-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)TOHYAMA, J; VANIER, M. T; SUZUKI, Kinuko et al.Human molecular genetics (Print). 2000, Vol 9, Num 11, pp 1699-1707, issn 0964-6906Article

Epileptic seizures and event-related potentials (P300) in childhood partial epilepsiesNAGANUMA, Y; KONISHI, T; HONGOU, K et al.Clinical EEG electroencephalography. 1997, Vol 28, Num 2, pp 106-111, issn 0009-9155Conference Paper

Acid alpha-glucosidase deficiency : identification and expression of a missense mutation (S529V) in a Japanese adult phenotypeTSUNODA, H; OHSHIMA, T; TOHYAMA, J et al.Human genetics. 1996, Vol 97, Num 4, pp 496-499, issn 0340-6717Article

Increased expression in Escherichia coli of human tumor necrosis factor through in vitro mutagenesis around the initiation codonNOBUHARA, M; MORISHITA, H; TOHYAMA, J et al.Agricultural and biological chemistry. 1988, Vol 52, Num 6, pp 1331-1338, issn 0002-1369, 8 p.Article

A novel point mutation in the mitochondrial tRNA^Leu(UUR) gene in a family with mitochondrial myopathyGOTO, Y.-I; TOJO, M; TOHYAMA, J et al.Annals of neurology. 1992, Vol 31, Num 6, pp 672-675, issn 0364-5134Article

Event-related potentials (P300) and EEG activity in childhood partial epilepsyNAGANUMA, Y; KONISHI, T; HONGOU, K et al.Brain & development (Tokyo. 1979). 1997, Vol 19, Num 2, pp 117-121, issn 0387-7604Article

Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber diseaseTOHYAMA, J; OYA, Y; EZOE, T et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 5, pp 649-662, issn 0141-8955Article

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalusTAKECHI, T; TOHYAMA, J; KURASHIGE, T et al.Human genetics. 1996, Vol 97, Num 3, pp 353-356, issn 0340-6717Article

A radiological analysis of heart sympathetic functions with meta-[¹²³I]iodobenzylguanidine in neurological patients with autonomic failureHAKUSUI, S; YASUDA, T; YANAGI, T et al.Journal of the autonomic nervous system. 1994, Vol 49, Num 1, pp 81-84, issn 0165-1838Article

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicusGUERRINI, R; MORO, F; HAYASAKA, K et al.Neurology. 2007, Vol 69, Num 5, pp 427-433, issn 0028-3878, 7 p.Article

Evidence for active acetylcholine metabolism in human amniotic epithelial cells: applicable to intracerebral allografting for neurologic diseaseSAKURAGAWA, N; MISAWA, H; ARAI, H et al.Neuroscience letters. 1997, Vol 232, Num 1, pp 53-56, issn 0304-3940Article

Clinico-radiological features of subarachnoid hyperintensity on diffusion-weighted images in patients with meningitisKAWAGUCHI, T; SAKURAI, K; OJIKA, K et al.Clinical radiology. 2012, Vol 67, Num 4, pp 306-312, issn 0009-9260, 7 p.Article