-
2
-
-
0025124542
-
Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
-
Nygaard TG, Trugman JM, de Yebenes JG, et al. Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 1990;40:66-9.
-
(1990)
Neurology
, vol.40
, pp. 66-69
-
-
Nygaard, T.G.1
Trugman, J.M.2
De Yebenes, J.G.3
-
4
-
-
0028816765
-
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
-
Lüdecke B, Dworniczak B, Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 1995;93:123-5.
-
(1995)
Hum Genet
, vol.93
, pp. 123-125
-
-
Lüdecke, B.1
Dworniczak, B.2
Bartholomé, K.3
-
5
-
-
0029049876
-
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog PM, Flatmark T, Mallet J, et al. Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;4:1209-12.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
-
6
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E-I, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-42.
-
(1994)
Nat Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.-I.3
-
7
-
-
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
-
8
-
-
0030059804
-
Dopa-responsive dystonia in British patients: New mutations of the GTP cyclohydrolase I gene and evidence for genetic heterogeneity
-
Bandmann O, Nygaard T, Surtees R, et al. Dopa-responsive dystonia in British patients: new mutations of the GTP cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet 1996;5:403-6.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 403-406
-
-
Bandmann, O.1
Nygaard, T.2
Surtees, R.3
-
9
-
-
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;39:609-17.
-
(1996)
Ann Neurol
, vol.39
, pp. 609-617
-
-
Furukawa, Y.1
Shimadzu, M.2
Rajput, A.H.3
-
10
-
-
0029829711
-
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset
-
Hirano M, Tamara Y, Ito H, et al. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset. Ann Neurol 1996;40:796-8.
-
(1996)
Ann Neurol
, vol.40
, pp. 796-798
-
-
Hirano, M.1
Tamara, Y.2
Ito, H.3
-
11
-
-
15444348451
-
A new mutation of GTP cyclohydrolase I gene causative for doparesponsive dystonia in a French family
-
Brique S, Chartier-Harlin MC, Dhondt JL, et al. A new mutation of GTP cyclohydrolase I gene causative for doparesponsive dystonia in a French family. Mov Disord 1997;12(suppl II):67.
-
(1997)
Mov Disord
, vol.12
, Issue.2 SUPPL.
, pp. 67
-
-
Brique, S.1
Chartier-Harlin, M.C.2
Dhondt, J.L.3
-
12
-
-
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;213:645-51.
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 645-651
-
-
Hirano, M.1
Tamaru, Y.2
Nagai, Y.3
-
13
-
-
34548005204
-
Molekulargenetik und Klinik der Dopa-responsiven Dystonie
-
Steinberger D, Müller U. Molekulargenetik und Klinik der Dopa-responsiven Dystonie. Dt Ärztebl 1996; 93:B1271-3.
-
(1996)
Dt Ärztebl
, vol.93
-
-
Steinberger, D.1
Müller, U.2
-
14
-
-
0003081484
-
Das MLS-Gerät: Ein neuer Testapparat zur Messung feinmotorischer Leistungen
-
Schoppe KJ. Das MLS-Gerät: Ein neuer Testapparat zur Messung feinmotorischer Leistungen. Diagnostica 1980;20: 43-6.
-
(1980)
Diagnostica
, vol.20
, pp. 43-46
-
-
Schoppe, K.J.1
-
16
-
-
0017033821
-
A modified card sorting test sensitive to frontal lobe defects
-
Nelson HEA. A modified card sorting test sensitive to frontal lobe defects. Cortex 1976;12:313-24.
-
(1976)
Cortex
, vol.12
, pp. 313-324
-
-
Nelson, H.E.A.1
-
17
-
-
0029079994
-
Dopa-responsive dystonia
-
Nygaard TG. Dopa-responsive dystonia. Curr Opin Neurol 1995;8:310-3.
-
(1995)
Curr Opin Neurol
, vol.8
, pp. 310-313
-
-
Nygaard, T.G.1
-
18
-
-
0027942145
-
Dopa-responsive dystonia simulating cerebral palsy
-
Nygaard TG, Waran SP, Levine RA, et al. Dopa-responsive dystonia simulating cerebral palsy. Pediatr Neurol 1994;11: 236-40.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 236-240
-
-
Nygaard, T.G.1
Waran, S.P.2
Levine, R.A.3
-
20
-
-
0027354115
-
MRI pathology of basal ganglia in dystonic disorders
-
Iwata M. MRI pathology of basal ganglia in dystonic disorders. Adv Neurol 1993;60:535-9.
-
(1993)
Adv Neurol
, vol.60
, pp. 535-539
-
-
Iwata, M.1
-
21
-
-
0027326826
-
Neurocognitive function and brain imaging in Turner syndrome - Preliminary results
-
Ross JL, Reiss AL, Freund L, et al. Neurocognitive function and brain imaging in Turner syndrome - Preliminary results. Horm Res 1993;39(suppl 2):65-9.
-
(1993)
Horm Res
, vol.39
, Issue.2 SUPPL.
, pp. 65-69
-
-
Ross, J.L.1
Reiss, A.L.2
Freund, L.3
-
22
-
-
0027384938
-
X-chromosome effects on female brain: A magnetic resonance imaging study of Turner's syndrome
-
Murphy DGM, DeCarli C, Daly E, et al. X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome. Lancet 1993;342:1197-200.
-
(1993)
Lancet
, vol.342
, pp. 1197-1200
-
-
Murphy, D.G.M.1
DeCarli, C.2
Daly, E.3
-
23
-
-
0026659796
-
Biological significance of iron-related magnetic resonance imaging changes in the brain
-
Pujol J, Junque C, Vendrell P, et al. Biological significance of iron-related magnetic resonance imaging changes in the brain. Arch Neurol 1992;49:711-7.
-
(1992)
Arch Neurol
, vol.49
, pp. 711-717
-
-
Pujol, J.1
Junque, C.2
Vendrell, P.3
-
25
-
-
0025993229
-
Cognitive impairment in early, untreated Parkinson's disease and its relationship to motor disability
-
Cooper JA, Sagar HJ, Jordan N, et al. Cognitive impairment in early, untreated Parkinson's disease and its relationship to motor disability. Brain 1991;114:2095-122.
-
(1991)
Brain
, vol.114
, pp. 2095-2122
-
-
Cooper, J.A.1
Sagar, H.J.2
Jordan, N.3
-
26
-
-
0028221755
-
Dopa-responsive dystonia: Pathological and biochemical observations in a case
-
Rajput AH, Gibb WRG, Zhong XH, et al. Dopa-responsive dystonia: pathological and biochemical observations in a case. Ann Neurol 1994;35:396-402.
-
(1994)
Ann Neurol
, vol.35
, pp. 396-402
-
-
Rajput, A.H.1
Gibb, W.R.G.2
Zhong, X.H.3
|