-
1
-
-
0016906737
-
Dystonia: An overview
-
Zeman W. Dystonia: an overview. Adv Neurol 1976;14:91-103
-
(1976)
Adv Neurol
, vol.14
, pp. 91-103
-
-
Zeman, W.1
-
2
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994;8:236-242
-
(1994)
Nature Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
-
3
-
-
0029162075
-
Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia
-
Hirano M, Tamaru Y, Nagai Y, et al. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem Biophys Res Commun 1995;213:645-651
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 645-651
-
-
Hirano, M.1
Tamaru, Y.2
Nagai, Y.3
-
4
-
-
0029093393
-
GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation
-
Ichinose H, Ohye T, Segawa M, et al. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett 1995;196:5-8
-
(1995)
Neurosci Lett
, vol.196
, pp. 5-8
-
-
Ichinose, H.1
Ohye, T.2
Segawa, M.3
-
5
-
-
0016913614
-
Hereditary progressive dystonia with marked diurnal fluctuation
-
Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233
-
(1976)
Adv Neurol
, vol.14
, pp. 215-233
-
-
Segawa, M.1
Hosaka, A.2
Miyagawa, F.3
-
6
-
-
0027354029
-
Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
-
Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993; 60:577-585
-
(1993)
Adv Neurol
, vol.60
, pp. 577-585
-
-
Nygaard, T.G.1
-
7
-
-
0028902943
-
Characterization of mouse and human GTP cyclohydrolase I genes
-
Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes. J Biol Chem 1995;270:10062-10071
-
(1995)
J Biol Chem
, vol.270
, pp. 10062-10071
-
-
Ichinose, H.1
Ohye, T.2
Matsuda, Y.3
-
8
-
-
0029644734
-
Atomic structure of GTP cyclohydrolase I
-
Nar H, Huber R, Meining W, et al. Atomic structure of GTP cyclohydrolase I. Structure 1995;3:459-466
-
(1995)
Structure
, vol.3
, pp. 459-466
-
-
Nar, H.1
Huber, R.2
Meining, W.3
-
9
-
-
0029148315
-
Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers
-
Maier J, Witter K, Gütlich M, et al. Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers. Biochem Biophys Res Commun 1995;212:705-711
-
(1995)
Biochem Biophys Res Commun
, vol.212
, pp. 705-711
-
-
Maier, J.1
Witter, K.2
Gütlich, M.3
-
10
-
-
0028106435
-
Pathophysiology of sodium channelopathies: Correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
-
Zhou J, Spier SJ, Beech J, et al. Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum Mol Genet 1994;3:1599-1603
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1599-1603
-
-
Zhou, J.1
Spier, S.J.2
Beech, J.3
-
11
-
-
0027329008
-
Dominant negative mutations of the scavenger receptor
-
Dejager S, Mietus-Snyder M, Friera A, et al. Dominant negative mutations of the scavenger receptor. J Clin Invest 1993; 92:894-902
-
(1993)
J Clin Invest
, vol.92
, pp. 894-902
-
-
Dejager, S.1
Mietus-Snyder, M.2
Friera, A.3
-
12
-
-
0028032140
-
Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
-
Steinmeyer K, Lorenz C, Pusch M, et al. Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J 1994;13:737-743
-
(1994)
EMBO J
, vol.13
, pp. 737-743
-
-
Steinmeyer, K.1
Lorenz, C.2
Pusch, M.3
-
13
-
-
0025741334
-
An analysis of lymphocyte 3H-N-methyl-scopolamine binding in neurological patients
-
Ferrero P, Rocca P, Eva C, et al. An analysis of lymphocyte 3H-N-methyl-scopolamine binding in neurological patients. Brain 1991;114:1759-1770
-
(1991)
Brain
, vol.114
, pp. 1759-1770
-
-
Ferrero, P.1
Rocca, P.2
Eva, C.3
-
14
-
-
0022872116
-
Cholinergic muscarinic binding by rat lymphocytes: Effects of antagonist treatment, strain and aging
-
Shenkman L, Rabey JM, Gilad GM. Cholinergic muscarinic binding by rat lymphocytes: effects of antagonist treatment, strain and aging. Brain Res 1986;380:303-308
-
(1986)
Brain Res
, vol.380
, pp. 303-308
-
-
Shenkman, L.1
Rabey, J.M.2
Gilad, G.M.3
-
15
-
-
0027239630
-
Expression of the D3 dopamine receptor gene and a novel variant transcript generated by alternative splicing in human peripheral blood lymphocytes
-
Nagai Y, Ueno S, Saeki Y, et al. Expression of the D3 dopamine receptor gene and a novel variant transcript generated by alternative splicing in human peripheral blood lymphocytes. Biochem Biophys Res Commun 1993;194:368-374
-
(1993)
Biochem Biophys Res Commun
, vol.194
, pp. 368-374
-
-
Nagai, Y.1
Ueno, S.2
Saeki, Y.3
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