-
1
-
-
0029049876
-
Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381 K) in the tyrosine hydroxylase gene
-
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381 K) in the tyrosine hydroxylase gene. Hum Molec Genet 1995;4:1209-1212.
-
(1995)
Hum. Molec. Genet.
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
Ludecke, B.4
Bartholome, K.5
-
2
-
-
0030035985
-
Recessively inherited L-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Molec Genet 1996;5:1023-1028.
-
(1996)
Hum. Molec. Genet.
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
-
3
-
-
0344435235
-
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291de1C)
-
Wevers RA, De Rijk-van Andel JF, Brautigam C, et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291de1C). J Inher Metab Dis 1999;22:364-373.
-
(1999)
J. Inher. Metab. Dis
, vol.22
, pp. 364-373
-
-
Wevers, R.A.1
De Rijk-van Andel, J.F.2
Brautigam, C.3
-
4
-
-
0033914517
-
Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy
-
Dionisi-Vici C, Hoffman GF, Leuzzi V, et al. Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy. J Pediatr 2000;136: 560-562.
-
(2000)
J. Pediatr.
, vol.136
, pp. 560-562
-
-
Dionisi-Vici, C.1
Hoffman, G.F.2
Leuzzi, V.3
-
5
-
-
0034110552
-
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
-
Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
-
(2000)
Ann. Hum. Genet.
, vol.64
, pp. 25-31
-
-
Swaans, R.J.1
Rondot, P.2
Renier, W.O.3
Van Den Heuvel, L.P.4
Steenbergen-Spanjers, G.C.5
Wevers, R.A.6
-
6
-
-
0034719035
-
L-dopa-responsive infantile hypokinetic rigid Parkinsonism due to tyrosine hydroxylase deficiency
-
de Rijk-Van Andel JF. Gabreels FJ, Geurtz B, Steenbergen-Spanjers GC, van Den Heuvel LP, Smeitink JA, Wevers RA. L-dopa-responsive infantile hypokinetic rigid Parkinsonism due to tyrosine hydroxylase deficiency. Neurology 2000;55:1926-1928.
-
(2000)
Neurology
, vol.55
, pp. 1926-1928
-
-
de Rijk-Van Andel, J.F.1
Gabreels, F.J.2
Geurtz, B.3
Steenbergen-Spanjers, G.C.4
van Den Heuvel, L.P.5
Smeitink, J.A.6
Wevers, R.A.7
-
7
-
-
0030898773
-
Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test
-
Hyland K, Fryburg JS, Wilson WG, Bebin EM, Arnold LA, Gunasekera RS. Jacobson RD, Rost-Ruffner E, Trugman JM. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology 1997;48:1290-1297.
-
(1997)
Neurology
, vol.48
, pp. 1290-1297
-
-
Hyland, K.1
Fryburg, J.S.2
Wilson, W.G.3
Bebin, E.M.4
Arnold, L.A.5
Gunasekera, R.S.6
Jacobson, R.D.7
Rost-Ruffner, E.8
Trugman, J.M.9
-
8
-
-
0012229875
-
Measurement of the acidic metabolites of biogenic amines
-
Sampson DC, editor. Australasian Association of Clinical Biochemists
-
Earl JW. Measurement of the acidic metabolites of biogenic amines. In: Sampson DC, editor. The clinical biochemist - monographs "HPLC in the clinical laboratory." Australasian Association of Clinical Biochemists; 1986:57-62.
-
(1986)
The Clinical Biochemist - Monographs "HPLC in the Clinical Laboratory"
, pp. 57-62
-
-
Earl, J.W.1
-
9
-
-
0031901965
-
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa-responsive dystonia (DRD) in the Dutch population
-
van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-dopa-responsive dystonia (DRD) in the Dutch population. Hum Genet 1998;102:644-646.
-
(1998)
Hum. Genet.
, vol.102
, pp. 644-646
-
-
van den Heuvel, L.P.1
Luiten, B.2
Smeitink, J.A.3
de Rijk-van Andel, J.F.4
Hyland, K.5
Steenbergen-Spanjers, G.C.6
Janssen, R.J.7
Wevers, R.A.8
-
10
-
-
0028912476
-
Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development
-
Zhou Q-Y, Quaife CJ, Palmiter RD. Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Nature 1995;374:640-646.
-
(1995)
Nature
, vol.374
, pp. 640-646
-
-
Zhou, Q.-Y.1
Quaife, C.J.2
Palmiter, R.D.3
-
11
-
-
0031972016
-
Cerebrospinal fluid investigations for neurometabolic disorders
-
Hoffman GF, Surtees RAH, Wevers RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics 1998; 29:59-71.
-
(1998)
Neuropediatrics
, vol.29
, pp. 59-71
-
-
Hoffman, G.F.1
Surtees, R.A.H.2
Wevers, R.A.3
-
12
-
-
0025860490
-
Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect
-
Factor SA, Coni RJ, Cowger M, Rosenblum EL. Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect. Neurology 1991;41:930-932.
-
(1991)
Neurology
, vol.41
, pp. 930-932
-
-
Factor, S.A.1
Coni, R.J.2
Cowger, M.3
Rosenblum, E.L.4
-
14
-
-
0031290382
-
Aromatic L-amino acid decarboxylase deficiency: An extrapyramidal movement disorder with oculogyric crises
-
Korenke GC, Christen HJ, Hyland K, Hunneman DH, Hanefeld F. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. Eur J Ped Neurol 1997;2/3:67-71
-
(1997)
Eur. J. Ped. Neurol.
, vol.2-3
, pp. 67-71
-
-
Korenke, G.C.1
Christen, H.J.2
Hyland, K.3
Hunneman, D.H.4
Hanefeld, F.5
-
15
-
-
0031907104
-
Infantile Parkinsonism-dystonia: Tyrosine hydroxylase deficiency
-
Surtees R, Clayton P. Infantile Parkinsonism-dystonia: tyrosine hydroxylase deficiency. Mov Disord 1998;13:350.
-
(1998)
Mov. Disord.
, vol.13
, pp. 350
-
-
Surtees, R.1
Clayton, P.2
-
16
-
-
0033909830
-
Physiological and pathological tremors and rhythmic central motor control
-
McAuley JH, Marsden CD. Physiological and pathological tremors and rhythmic central motor control. Brain 2000;123:1545-1567.
-
(2000)
Brain
, vol.123
, pp. 1545-1567
-
-
McAuley, J.H.1
Marsden, C.D.2
-
17
-
-
0025583351
-
Basic mechanisms of cerebral rhythmic activities
-
Report of IFCN Committee on Basic Mechanisms
-
Steriade M, Gloor P, Llinas RR, Lopes de Silva FH, Mesulam MM. Report of IFCN Committee on Basic Mechanisms. Basic mechanisms of cerebral rhythmic activities. Electroencephalogr Clin Neurophysiol 1990;76:481-508.
-
(1990)
Electroencephalogr. Clin. Neurophysiol.
, vol.76
, pp. 481-508
-
-
Steriade, M.1
Gloor, P.2
Llinas, R.R.3
Lopes de Silva, F.H.4
Mesulam, M.M.5
-
18
-
-
0000995882
-
An orderly approach to visual analysis: Characteristics of the normal EEG of adults and children
-
Daly D, Pedley TA, editors. 2nd ed. New York: Raven Press
-
Kellaway P. An orderly approach to visual analysis: characteristics of the normal EEG of adults and children. In: Daly D, Pedley TA, editors. Current practice of clinical electroencephalography 2nd ed. New York: Raven Press; 1990. p 184.
-
(1990)
Current Practice of Clinical Electroencephalography
, pp. 184
-
-
Kellaway, P.1
-
19
-
-
0031926568
-
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
-
Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. 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
Jacobson, R.D.4
Fryburg, J.S.5
Wilson, W.G.6
Shimadzu, M.7
Hyland, K.8
Trugman, J.M.9
-
20
-
-
0034660063
-
Dopamine-deficient mice are hypersensitive to dopamine receptior agonists
-
Kim DS, Szozypka M, Palmiter RD. Dopamine-deficient mice are hypersensitive to dopamine receptior agonists. J Neurosci 2000; 20:4405-4413.
-
(2000)
J. Neurosci.
, vol.20
, pp. 4405-4413
-
-
Kim, D.S.1
Szozypka, M.2
Palmiter, R.D.3
-
21
-
-
0032736042
-
L-dopa-induced peak-dose dyskinesia in patients with Parkinson's disease: A clinical pharmocological approach
-
Rascol O. L-dopa-induced peak-dose dyskinesia in patients with Parkinson's disease: a clinical pharmocological approach. Mov Disord 1999;14(Suppl. 1):19-32.
-
(1999)
Mov. Disord.
, vol.14
, Issue.SUPPL. 1
, pp. 19-32
-
-
Rascol, O.1
-
22
-
-
0012319244
-
Chorea, athetosis, dystonia, tremor and Parkinsonism
-
Robertson M, Valsamma E, editors. Chicester: John Wiley and Sons
-
Trinidad KS, Kurlan R. Chorea, athetosis, dystonia, tremor and Parkinsonism. In: Robertson M, Valsamma E, editors. Movement and allied disorders in childhood. Chicester: John Wiley and Sons; 1995. p 105-149.
-
(1995)
Movement and Allied Disorders in Childhood
, pp. 105-149
-
-
Trinidad, K.S.1
Kurlan, R.2
-
24
-
-
0035936609
-
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
-
Furakawa Y, Graf WD, Wong H et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260-263.
-
(2001)
Neurology
, vol.56
, pp. 260-263
-
-
Furakawa, Y.1
Graf, W.D.2
Wong, H.3
-
26
-
-
0026785903
-
Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
-
Hyland K, Surtees RAH, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992;42:1980-1988.
-
(1992)
Neurology
, vol.42
, pp. 1980-1988
-
-
Hyland, K.1
Surtees, R.A.H.2
Rodeck, C.3
Clayton, P.T.4
-
27
-
-
0030961201
-
Aromatic L-amino Acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a second family
-
Maller A, Hyland K, Milstein S, et al. Aromatic L-amino Acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. J Child Neurol 1997;12:349-354.
-
(1997)
J. Child Neurol.
, vol.12
, pp. 349-354
-
-
Maller, A.1
Hyland, K.2
Milstein, S.3
-
28
-
-
0032834342
-
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency
-
Swoboda KJ, Hyland K, Goldstein DS, et al. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology 1999;53:1205-1211.
-
(1999)
Neurology
, vol.53
, pp. 1205-1211
-
-
Swoboda, K.J.1
Hyland, K.2
Goldstein, D.S.3
-
29
-
-
0023243983
-
Oculogyric crisis: A syndrome of thought disorder and ocular deviation
-
Leigh RJ, Foley JM, Remler B, Civil RH. Oculogyric crisis: a syndrome of thought disorder and ocular deviation. Ann Neurol 1987;22:13-17.
-
(1987)
Ann. Neurol.
, vol.22
, pp. 13-17
-
-
Leigh, R.J.1
Foley, J.M.2
Remler, B.3
Civil, R.H.4
-
32
-
-
0025772671
-
Dopamine β-hydroxylase deficiency: A genetic disorder of cardiovascular regulation
-
Robertson D, Haile V, Perry SE, et al. Dopamine β-hydroxylase deficiency: a genetic disorder of cardiovascular regulation. Hypertension 1991;18:1-8.
-
(1991)
Hypertension
, vol.18
, pp. 1-8
-
-
Robertson, D.1
Haile, V.2
Perry, S.E.3
-
33
-
-
0031745285
-
Restoration of Norepinephrine and reversal of phenotypes in mice lacking dopamine B-hydroxylase
-
Thomas SA, Marck BT, Palmiter RD, Matsumoto AM. Restoration of Norepinephrine and reversal of phenotypes in mice lacking dopamine B-hydroxylase. J Neurochem 1998;70:2468-2476.
-
(1998)
J. Neurochem.
, vol.70
, pp. 2468-2476
-
-
Thomas, S.A.1
Marck, B.T.2
Palmiter, R.D.3
Matsumoto, A.M.4
-
34
-
-
0030878314
-
Apraxia of eye lid opening: A review
-
Boghen D. Apraxia of eye lid opening: a review. Neurology 1997; 48:1491-1494
-
(1997)
Neurology
, vol.48
, pp. 1491-1494
-
-
Boghen, D.1
-
35
-
-
0002274105
-
The autonomic nervous system
-
Kandel ER, Schwartz JH, Jessel TM, editors. 3rd ed. London: Appleton and Lange
-
Dodd J, Role LW. The autonomic nervous system. In: Kandel ER, Schwartz JH, Jessel TM, editors. Principles of neural science 3rd ed. London: Appleton and Lange; 1991. p 761-777.
-
(1991)
Principles of Neural Science
, pp. 761-777
-
-
Dodd, J.1
Role, L.W.2
|