-
1
-
-
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
-
2
-
-
0030059804
-
Dopa-responsive dystonia in British patients: New mutations of the GTPcyclohydrolase I gene and evidence for genetic heterogeneity
-
Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTPcyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-406.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 403-406
-
-
Bandmann, O.1
Nygaard, T.G.2
Surtees, R.3
Marsden, C.D.4
Wood, N.W.5
Harding, A.E.6
-
3
-
-
0028902943
-
Characterization of mouse and human GTP cyclohydrolase I genes: Mutations in patients with GTP cyclohydrolase I deficiency
-
Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes: mutations in patients with GTP cyclohydrolase I deficiency. 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
-
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
-
-
0031943362
-
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
-
Furukawa Y, Lang AE, Trugman JM, et al. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology 1998;50:1015-1020.
-
(1998)
Neurology
, vol.50
, pp. 1015-1020
-
-
Furukawa, Y.1
Lang, A.E.2
Trugman, J.M.3
-
6
-
-
0029931119
-
GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia
-
Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia. Ann Neurol 1996;39:609-617.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 609-617
-
-
Furukawa, Y.1
Shimadzu, M.2
Rajput, A.H.3
-
7
-
-
0031926568
-
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
-
Furukawa Y, Kish SJ, Bebin EM, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-16.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 10-16
-
-
Furukawa, Y.1
Kish, S.J.2
Bebin, E.M.3
-
8
-
-
0030908332
-
A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia
-
Beyer K, Lao-Villadoniga JI, Vecino-Bilbao B, Cacabelos R, De la Fuente-Fernández R. A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia. J Neurol Neurosurg Psychiatry 1997;62: 420-421.
-
(1997)
J. Neurol. Neurosurg. Psychiatry
, vol.62
, pp. 420-421
-
-
Beyer, K.1
Lao-Villadoniga, J.I.2
Vecino-Bilbao, B.3
Cacabelos, R.4
De la Fuente-Fernández, R.5
-
10
-
-
0029829711
-
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset
-
Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. Ann Neurol 1996;40:796-798.
-
(1996)
Ann. Neurol.
, vol.40
, pp. 796-798
-
-
Hirano, M.1
Tamaru, Y.2
Ito, H.3
Matsumoto, S.4
Imai, T.5
Ueno, S.6
-
11
-
-
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, Ito H, Imai T, Ueno S. 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
Ito, H.4
Imai, T.5
Ueno, S.6
-
12
-
-
0031689897
-
Dominant negative effect of GTP cyclohydrolase I mutations in DOPA-responsive hereditary progressive dystonia
-
Hirano M, Yanagihara T, Ueno S. Dominant negative effect of GTP cyclohydrolase I mutations in DOPA-responsive hereditary progressive dystonia. Ann Neurol 1998;44:365-371.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 365-371
-
-
Hirano, M.1
Yanagihara, T.2
Ueno, S.3
-
13
-
-
0031782494
-
The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia
-
Illarioshkin SN, Markova ED, Slominsky PA, et al. The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia. Arch Neurol 1998;55:789-792.
-
(1998)
Arch. Neurol.
, vol.55
, pp. 789-792
-
-
Illarioshkin, S.N.1
Markova, E.D.2
Slominsky, P.A.3
-
14
-
-
0031909292
-
A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia
-
Imaiso Y, Taniwaki T, Yamada T, et al. A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia. J Neurol 1998;50:517-519.
-
(1998)
J. Neurol.
, vol.50
, pp. 517-519
-
-
Imaiso, Y.1
Taniwaki, T.2
Yamada, T.3
-
15
-
-
0031784841
-
Dopa responsive dystonia: A clinical and molecular study
-
Bandmann MD, Valente EM, Holmans RA, et al. Dopa responsive dystonia: a clinical and molecular study. Ann Neurol 1998;44:649-656.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 649-656
-
-
Bandmann, M.D.1
Valente, E.M.2
Holmans, R.A.3
-
16
-
-
0031958577
-
High penetrance and pronounced variation in expressivity of GCHI mutations in five families with dopa-responsive dystonia
-
Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Muller U. High penetrance and pronounced variation in expressivity of GCHI mutations in five families with dopa-responsive dystonia. Ann Neurol 1998;43:634-639.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 634-639
-
-
Steinberger, D.1
Weber, Y.2
Korinthenberg, R.3
Deuschl, G.4
Benecke, R.5
Martinius, J.6
Muller, U.7
-
17
-
-
0031956871
-
Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene
-
Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S. Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. J Neurol Neurosurg Psychiatry 1998; 64:469-473.
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.64
, pp. 469-473
-
-
Tamaru, Y.1
Hirano, M.2
Ito, H.3
Kawamura, J.4
Matsumoto, S.5
Imai, T.6
Ueno, S.7
-
18
-
-
0031215460
-
Two previously unrecognized splicing mutations of GCHI in dopa-responsive dystonia: Exon skipping and one base insertion
-
Weber Y, Steinberger D, Deuschl G, Benecke R, Muller U. Two previously unrecognized splicing mutations of GCHI in dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics 1997;1:125-127.
-
(1997)
Neurogenetics
, vol.1
, pp. 125-127
-
-
Weber, Y.1
Steinberger, D.2
Deuschl, G.3
Benecke, R.4
Muller, U.5
-
19
-
-
0026557650
-
Distonía sensible a la levodopa
-
Ochoa J, Bescansa E, Sánchez López F, Cañadillas F, Viñals M. Distonía sensible a la levodopa. Neurología 1992;7:73-76.
-
(1992)
Neurología
, vol.7
, pp. 73-76
-
-
Ochoa, J.1
Bescansa, E.2
Sánchez López, F.3
Cañadillas, F.4
Viñals, M.5
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