-
1
-
-
0025906669
-
Identification of 17 independent mutations responsible for human hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency
-
Davidson B. L., Tarie S. A., Van Antwerp M., Gibbs D. A., Watts R. W. E., Kelley W. N., and Palella T. D. (1991) Identification of 17 independent mutations responsible for human hypoxanthineguanine phosphoribosyltransferase (HPRT) deficiency. Am. J. Hum. Genet. 48, 951-958.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 951-958
-
-
Davidson, B.L.1
Tarie, S.A.2
Van Antwerp, M.3
Gibbs, D.A.4
Watts, R.W.E.5
Kelley, W.N.6
Palella, T.D.7
-
2
-
-
0024441554
-
Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome
-
Dunnett S. B., Sirinathsinghji D. J. S., Heavens R., Rogers D. C., and Kuehn M. R. (1989) Monoamine deficiency in a transgenic (Hprt-) mouse model of Lesch-Nyhan syndrome. Brain Res. 501, 401-406.
-
(1989)
Brain Res.
, vol.501
, pp. 401-406
-
-
Dunnett, S.B.1
Sirinathsinghji, D.J.S.2
Heavens, R.3
Rogers, D.C.4
Kuehn, M.R.5
-
3
-
-
0029889462
-
Presynaptic dopaminergic deficits in Lesch-Nyhan disease
-
Ernst M., Zametkin A. J., Matochik J. A., Pascualvaca D., Jons P. H., Hardy K., Hankerson J. G., Doudet D. J., and Cohen R. M. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N. Engl. J. Med 334, 1568-1572.
-
(1996)
N. Engl. J. Med
, vol.334
, pp. 1568-1572
-
-
Ernst, M.1
Zametkin, A.J.2
Matochik, J.A.3
Pascualvaca, D.4
Jons, P.H.5
Hardy, K.6
Hankerson, J.G.7
Doudet, D.J.8
Cohen, R.M.9
-
4
-
-
0023679928
-
Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome
-
Finger S., Heavens R. P., Sirinathsinghji D. J. S., Kuehn M. R., and Dunnett S. B. (1988) Behavioral and neurochemical evaluation of a transgenic mouse model of Lesch-Nyhan syndrome. J. Neurol. Sci. 86, 203-213.
-
(1988)
J. Neurol. Sci.
, vol.86
, pp. 203-213
-
-
Finger, S.1
Heavens, R.P.2
Sirinathsinghji, D.J.S.3
Kuehn, M.R.4
Dunnett, S.B.5
-
5
-
-
0029940557
-
Gene-targeting studies of mammalian behavior: Is it the mutation or the background genotype?
-
Gerlai R. (1996) Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype? Trends Neurasci. 19, 177-181.
-
(1996)
Trends Neurasci.
, vol.19
, pp. 177-181
-
-
Gerlai, R.1
-
6
-
-
0031920461
-
Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome
-
Harris J. C., Lee R. R., Jinnah H. A., Wong D. F., Yaster M., and Bryan N. (1998) Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. Arch. Neurol. 55, 547-553.
-
(1998)
Arch. Neurol.
, vol.55
, pp. 547-553
-
-
Harris, J.C.1
Lee, R.R.2
Jinnah, H.A.3
Wong, D.F.4
Yaster, M.5
Bryan, N.6
-
7
-
-
0023150598
-
HPRT deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells
-
Hooper M., Hardy K., Handyside A., Hunter S., and Monk M. (1987) HPRT deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326, 292-295.
-
(1987)
Nature
, vol.326
, pp. 292-295
-
-
Hooper, M.1
Hardy, K.2
Handyside, A.3
Hunter, S.4
Monk, M.5
-
9
-
-
0026448598
-
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome
-
Jinnah H. A., Langlais P. J., and Friedmann T. (1992) Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. J. Pharmacol. Exp. Ther. 263, 596-607.
-
(1992)
J. Pharmacol. Exp. Ther.
, vol.263
, pp. 596-607
-
-
Jinnah, H.A.1
Langlais, P.J.2
Friedmann, T.3
-
10
-
-
0027287356
-
Brain purines in a genetic mouse model of Lesch-Nyhan disease
-
Jinnah H. A., Page T., and Friedmann T. (1993) Brain purines in a genetic mouse model of Lesch-Nyhan disease. J. Neurochem. 60, 2036-2045.
-
(1993)
J. Neurochem.
, vol.60
, pp. 2036-2045
-
-
Jinnah, H.A.1
Page, T.2
Friedmann, T.3
-
11
-
-
0028218268
-
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease
-
Jinnah H. A., Wojcik B. E., Hunt M. A., Narang N., Lee K. Y., Goldstein M., Wamsley J. K., Langlais P. J., and Friedmann T. (1994) Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J. Neurosci. 14, 1164-1175.
-
(1994)
J. Neurosci.
, vol.14
, pp. 1164-1175
-
-
Jinnah, H.A.1
Wojcik, B.E.2
Hunt, M.A.3
Narang, N.4
Lee, K.Y.5
Goldstein, M.6
Wamsley, J.K.7
Langlais, P.J.8
Friedmann, T.9
-
12
-
-
0023090920
-
A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice
-
Kuehn M. R., Bradley A., Robertson E. J., and Evans M. J. (1987) A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326, 295-298.
-
(1987)
Nature
, vol.326
, pp. 295-298
-
-
Kuehn, M.R.1
Bradley, A.2
Robertson, E.J.3
Evans, M.J.4
-
13
-
-
0019828355
-
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome
-
Lloyd K. G., Hornykiewicz O., Davidson L., Shannak K., Farley I., Goldstein M., Shibuya M., Kelley W. N., and Fox I. H. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N. Engl. J. Med. 305, 1106-1111.
-
(1981)
N. Engl. J. Med.
, vol.305
, pp. 1106-1111
-
-
Lloyd, K.G.1
Hornykiewicz, O.2
Davidson, L.3
Shannak, K.4
Farley, I.5
Goldstein, M.6
Shibuya, M.7
Kelley, W.N.8
Fox, I.H.9
-
14
-
-
0014544648
-
The metabolism of tyrosine-O-phosphate in Drosophila
-
Lunan K. D. and Mitchell H. K. (1969) The metabolism of tyrosine-O-phosphate in Drosophila. Arch. Biochem. Biophys. 132, 450-456.
-
(1969)
Arch. Biochem. Biophys.
, vol.132
, pp. 450-456
-
-
Lunan, K.D.1
Mitchell, H.K.2
-
15
-
-
0030944784
-
Psychopharmacology of dopamine: The contribution of comparative studies in inbred strains of mice
-
Puglisi-Allegra S. and Cabib S. (1997) Psychopharmacology of dopamine: the contribution of comparative studies in inbred strains of mice. Prog. Neurobiol. 51, 637-661.
-
(1997)
Prog. Neurobiol.
, vol.51
, pp. 637-661
-
-
Puglisi-Allegra, S.1
Cabib, S.2
-
16
-
-
0023390552
-
The postnatal development of the dopamine-containing innervation of dorsal and ventral striatum: Effects of the weaver gene
-
Roffler-Tarlov S. and Graybiel A. M. (1987) The postnatal development of the dopamine-containing innervation of dorsal and ventral striatum: effects of the weaver gene. J. Neurosci. 7, 2364-2372.
-
(1987)
J. Neurosci.
, vol.7
, pp. 2364-2372
-
-
Roffler-Tarlov, S.1
Graybiel, A.M.2
-
17
-
-
0001127049
-
Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout
-
Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds. McGraw-Hill, New York
-
Rossiter B. J. F. and Caskey C. T. (1995) Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout, in The Metabolic and Molecular Busis of Inherited Disease. Vol. 7 (Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds). pp. 1679-1706. McGraw-Hill, New York.
-
(1995)
The Metabolic and Molecular Busis of Inherited Disease
, vol.7
, pp. 1679-1706
-
-
Rossiter, B.J.F.1
Caskey, C.T.2
-
18
-
-
0025676592
-
Biochemical and in vivo voltammetric evidence for differences in striatal dopamine levels in inbred strains of mice
-
Sanghera M. K., Crespi F., Martin K. F., Heal D. J., Buckett W. R., and Marsden C. A. (1990) Biochemical and in vivo voltammetric evidence for differences in striatal dopamine levels in inbred strains of mice. Neuroscience 39, 649-656.
-
(1990)
Neuroscience
, vol.39
, pp. 649-656
-
-
Sanghera, M.K.1
Crespi, F.2
Martin, K.F.3
Heal, D.J.4
Buckett, W.R.5
Marsden, C.A.6
-
19
-
-
0026920426
-
Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
-
Sege-Peterson K., Chambers J., Page T., Jones O. W., and Nyhan W. L. (1992a) Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum. Mol. Genet. 1, 427-432.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 427-432
-
-
Sege-Peterson, K.1
Chambers, J.2
Page, T.3
Jones, O.W.4
Nyhan, W.L.5
-
20
-
-
0010297868
-
Lesch-Nyhan disease and HPRT deficiency
-
Rosenberg R. N., Prusiner S. B., Di-Mauro S., Barchi R. L., and Kunkel L. M., eds, Butterworth-Heinemann, Boston
-
Sege-Peterson K., Nyhan W. L., and Page T. (1992b) Lesch-Nyhan disease and HPRT deficiency, in The Molecular and Genetic Basis of Neurological Disease (Rosenberg R. N., Prusiner S. B., Di-Mauro S., Barchi R. L., and Kunkel L. M., eds), pp. 241-260. Butterworth-Heinemann, Boston.
-
(1992)
The Molecular and Genetic Basis of Neurological Disease
, pp. 241-260
-
-
Sege-Peterson, K.1
Nyhan, W.L.2
Page, T.3
-
21
-
-
0026773884
-
Role of genotype in brain dopamine metabolism and dopamine-dependent behavior of mice
-
Skrinskaya J. A., Nikulina E. M., and Popova N. K. (1992) Role of genotype in brain dopamine metabolism and dopamine-dependent behavior of mice. Pharmacol. Biochem. Behav. 42, 261-267.
-
(1992)
Pharmacol. Biochem. Behav.
, vol.42
, pp. 261-267
-
-
Skrinskaya, J.A.1
Nikulina, E.M.2
Popova, N.K.3
-
22
-
-
0023896538
-
The pre- and postnatal development of the dopaminergic cell groups in the ventral mesencephalon and the dopaminergic innervation of the striatum of the rat
-
Voorn P., Kalsbeek A., Jorritsma-Byham B., and Groenewegen H. J. (1988) The pre- and postnatal development of the dopaminergic cell groups in the ventral mesencephalon and the dopaminergic innervation of the striatum of the rat. Neuroscience 25, 857-887.
-
(1988)
Neuroscience
, vol.25
, pp. 857-887
-
-
Voorn, P.1
Kalsbeek, A.2
Jorritsma-Byham, B.3
Groenewegen, H.J.4
-
23
-
-
0026323452
-
Analysis of forebrain dopaminergic pathways in HPRT mice
-
Williamson D. J., Sharkey J., Clarke A. R., Jamieson A., Arbuthnott G. W., Kelly P. A. T., Melton D. W., and Hooper M. L. (1991) Analysis of forebrain dopaminergic pathways in HPRT mice. Adv. Exp. Med. Biol. 309B, 269-272.
-
(1991)
Adv. Exp. Med. Biol.
, vol.309 B
, pp. 269-272
-
-
Williamson, D.J.1
Sharkey, J.2
Clarke, A.R.3
Jamieson, A.4
Arbuthnott, G.W.5
Kelly, P.A.T.6
Melton, D.W.7
Hooper, M.L.8
-
24
-
-
9344268249
-
Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo
-
Wong D. F., Harris J. C., Naidu S., Yokoi F., Marenco S., Dannals R. F., Ravert H. T., Yaster M., Evans A., Rousset O., Bryan R. N., Gjedde A., Kuhar M. J., and Breese G. R. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc. Natl. Acad. Sci. USA 93, 5539-5543.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 5539-5543
-
-
Wong, D.F.1
Harris, J.C.2
Naidu, S.3
Yokoi, F.4
Marenco, S.5
Dannals, R.F.6
Ravert, H.T.7
Yaster, M.8
Evans, A.9
Rousset, O.10
Bryan, R.N.11
Gjedde, A.12
Kuhar, M.J.13
Breese, G.R.14
|