-
1
-
-
33745695582
-
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia
-
Abeling N.G., Duran M., Bakker H.D., et al. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab 2006, 89:116-120.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 116-120
-
-
Abeling, N.G.1
Duran, M.2
Bakker, H.D.3
-
2
-
-
0030059804
-
Dopa responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity
-
Bandmann O., Nygaard T.G., 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, 5:403-406.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 403-406
-
-
Bandmann, O.1
Nygaard, T.G.2
Surtees, R.3
-
3
-
-
0031784841
-
Dopa-responsive dystonia: a clinical and molecular genetic study
-
Bandmann O., Valene E.M., Holmans P., et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol 1998, 44:649-656.
-
(1998)
Ann Neurol
, vol.44
, pp. 649-656
-
-
Bandmann, O.1
Valene, E.M.2
Holmans, P.3
-
4
-
-
0029962924
-
International database of tetrahydrobiopterin deficiencies
-
Blau N., Barnes I., Dhondt J.L. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 1996, 19:8-14.
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 8-14
-
-
Blau, N.1
Barnes, I.2
Dhondt, J.L.3
-
5
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
-
Blau N., Bonafe L., Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 2001, 74:172-185.
-
(2001)
Mol Genet Metab
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thony, B.3
-
6
-
-
0034928621
-
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L., Thony B., Penzien J.M., et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001, 69:269-277.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 269-277
-
-
Bonafe, L.1
Thony, B.2
Penzien, J.M.3
-
7
-
-
0031721663
-
Biochemical hallmarks of tyrosine hydroxylase deficiency
-
Brautigam C., Wevers R.A., Jansen R.J., et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998, 44:1897-1904.
-
(1998)
Clin Chem
, vol.44
, pp. 1897-1904
-
-
Brautigam, C.1
Wevers, R.A.2
Jansen, R.J.3
-
8
-
-
0032710990
-
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
-
Brautigam C., Steenbergen-Spanjers G.C., Hoffmann G.F., et al. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999, 45:2073-2078.
-
(1999)
Clin Chem
, vol.45
, pp. 2073-2078
-
-
Brautigam, C.1
Steenbergen-Spanjers, G.C.2
Hoffmann, G.F.3
-
9
-
-
0021028678
-
Impaired growth of the cerebral cortex of rats treated neonatally with 6-hydroxydopamine under different environmental conditions
-
Brenner E., Mirmiran M., Uylings H.B., et al. Impaired growth of the cerebral cortex of rats treated neonatally with 6-hydroxydopamine under different environmental conditions. Neurosci Lett 1983, 42:13-17.
-
(1983)
Neurosci Lett
, vol.42
, pp. 13-17
-
-
Brenner, E.1
Mirmiran, M.2
Uylings, H.B.3
-
10
-
-
0028220629
-
Dopa-responsive dystonia
-
Calne D.B. Dopa-responsive dystonia. Ann Neurol 1994, 35:381-382.
-
(1994)
Ann Neurol
, vol.35
, pp. 381-382
-
-
Calne, D.B.1
-
11
-
-
0041572794
-
[Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with levodopa]
-
Castaigne P., Rondot P., Ribadeau-Dumas J.L., et al. [Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with levodopa]. Rev Neurol (Paris) 1971, 124:162-166.
-
(1971)
Rev Neurol (Paris)
, vol.124
, pp. 162-166
-
-
Castaigne, P.1
Rondot, P.2
Ribadeau-Dumas, J.L.3
-
12
-
-
33747162971
-
Broadening the phenotype of childhood-onset dopa-responsive dystonia
-
Chaila E.C., McCabe D.J., Delanty N., et al. Broadening the phenotype of childhood-onset dopa-responsive dystonia. Arch Neurol 2006, 63:1185-1188.
-
(2006)
Arch Neurol
, vol.63
, pp. 1185-1188
-
-
Chaila, E.C.1
McCabe, D.J.2
Delanty, N.3
-
13
-
-
40749090818
-
Dopa-responsive dystonia presenting as delayed and awkward gait
-
Cheyette B.N., Cheyette S.N., Cusmano-Ozog K., et al. Dopa-responsive dystonia presenting as delayed and awkward gait. Peiatr Neurol 2008, 38:273-275.
-
(2008)
Peiatr Neurol
, vol.38
, pp. 273-275
-
-
Cheyette, B.N.1
Cheyette, S.N.2
Cusmano-Ozog, K.3
-
14
-
-
0035719532
-
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
-
Chien Y.H., Chiang S.C., Huang A., et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. J Inherit Metab Dis 2001, 24:815-823.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 815-823
-
-
Chien, Y.H.1
Chiang, S.C.2
Huang, A.3
-
15
-
-
0022969750
-
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein
-
Cotton R.G., Jennings I., Bracco G., et al. Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein. J Inherit Metab Dis 1986, 9:239-243.
-
(1986)
J Inherit Metab Dis
, vol.9
, pp. 239-243
-
-
Cotton, R.G.1
Jennings, I.2
Bracco, G.3
-
16
-
-
0002836002
-
Pterins
-
Wiley-Liss, NewYork, NY, F.A. Hommes (Ed.)
-
Curtius H.C., Blou N., Kuster T. Pterins. Techniques in Diagnostic Human Biochemical Genetics: A Laboratory manual 1991, 377-379. Wiley-Liss, NewYork, NY. F.A. Hommes (Ed.).
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics: A Laboratory manual
, pp. 377-379
-
-
Curtius, H.C.1
Blou, N.2
Kuster, T.3
-
17
-
-
0026448115
-
" 7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases
-
Davis M.D., Ribeiro P., Tipper J., et al. " 7-tetrahydrobiopterin," a naturally occurring analogue of tetrahydrobiopterin, is a cofactor for and a potential inhibitor of the aromatic amino acid hydroxylases. Proc Natl Acad Sci U S A 1992, 89:10109-10113.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 10109-10113
-
-
Davis, M.D.1
Ribeiro, P.2
Tipper, J.3
-
18
-
-
21844451119
-
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
-
Demos M.K., Waters P.J., Vallance H.D., et al. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Ann Neurol 2005, 58:164-167.
-
(2005)
Ann Neurol
, vol.58
, pp. 164-167
-
-
Demos, M.K.1
Waters, P.J.2
Vallance, H.D.3
-
19
-
-
0022480610
-
Dopa-responsive progressive dystonia of childhood with fluctuations of symptoms - Segawa's syndrome and possible variants
-
Deonna T. Dopa-responsive progressive dystonia of childhood with fluctuations of symptoms - Segawa's syndrome and possible variants. Neuropediatrics 1986, 17:81-85.
-
(1986)
Neuropediatrics
, vol.17
, pp. 81-85
-
-
Deonna, T.1
-
20
-
-
0033914517
-
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy
-
Dionisi-Vici C., Hoffmann G.F., 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
Hoffmann, G.F.2
Leuzzi, V.3
-
21
-
-
0035044616
-
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency
-
Dudesek A., Roschinger W., Muntau A.C., et al. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 2001, 160:267-276.
-
(2001)
Eur J Pediatr
, vol.160
, pp. 267-276
-
-
Dudesek, A.1
Roschinger, W.2
Muntau, A.C.3
-
22
-
-
0034848395
-
Lewy bodies and Parkinsonism in families with parkin mutations
-
Farrer M., et al. Lewy bodies and Parkinsonism in families with parkin mutations. Ann Neurol 2001, 50:293-300.
-
(2001)
Ann Neurol
, vol.50
, pp. 293-300
-
-
Farrer, M.1
-
23
-
-
33846934640
-
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population
-
Farrugia R., Scerri C.A., Montalto Sa, et al. Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population. Mol Genet Metab 2007, 90:277-283.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 277-283
-
-
Farrugia, R.1
Scerri, C.A.2
Montalto, S.3
-
24
-
-
0023914805
-
Dystonia with marked diurnal variation associated with biopterin deficiency
-
Fink J.K., Barton N., Cohen W., et al. Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 1988, 38:707-711.
-
(1988)
Neurology
, vol.38
, pp. 707-711
-
-
Fink, J.K.1
Barton, N.2
Cohen, W.3
-
25
-
-
0041370581
-
Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease)
-
Fujita S., Shintaku H. Etiology and pteridine metabolism abnormality of hereditary progressive dystonia with marked diurnal fluctuation (HPD: Segawa disease). Med J Kushiro City Hosp 1990, 2:64-67.
-
(1990)
Med J Kushiro City Hosp
, vol.2
, pp. 64-67
-
-
Fujita, S.1
Shintaku, H.2
-
26
-
-
0037208668
-
Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss
-
Furukawa Y. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss. Adv Neurol 2003, 91:401-410.
-
(2003)
Adv Neurol
, vol.91
, pp. 401-410
-
-
Furukawa, Y.1
-
27
-
-
0032731974
-
Dopa-responsive dystonia: recent advances and remaining issues to be addressed
-
Furukawa Y., Kish S.J. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999, 14:709-715.
-
(1999)
Mov Disord
, vol.14
, pp. 709-715
-
-
Furukawa, Y.1
Kish, S.J.2
-
28
-
-
0027354028
-
CSF biopterin levels and clinical features of patients with juvenile parkinsonism
-
Furukawa Y., Nishi K., Kondo T., et al. CSF biopterin levels and clinical features of patients with juvenile parkinsonism. Adv Neurol 1993, 60:562-567.
-
(1993)
Adv Neurol
, vol.60
, pp. 562-567
-
-
Furukawa, Y.1
Nishi, K.2
Kondo, T.3
-
29
-
-
0029931119
-
GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa responsive dystonia
-
Furukawa Y., Shimadzu M., Rajput A.H., 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
-
30
-
-
0031926568
-
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
-
Furukawa Y., Kish S.J., Bebin E.M., 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
-
31
-
-
0031943362
-
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
-
Furukawa Y., Lang A.E., Trugman J.M., 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
-
32
-
-
0033595566
-
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
-
Furukawa Y., Nygaard T.G., Gutlich M., et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 1999, 53:1032-1041.
-
(1999)
Neurology
, vol.53
, pp. 1032-1041
-
-
Furukawa, Y.1
Nygaard, T.G.2
Gutlich, M.3
-
33
-
-
18744432269
-
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
-
Furukawa Y., Guttman M., Sparagana S.P., et al. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000, 47:517-520.
-
(2000)
Ann Neurol
, vol.47
, pp. 517-520
-
-
Furukawa, Y.1
Guttman, M.2
Sparagana, S.P.3
-
34
-
-
0035936609
-
Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase gene mutations
-
Furukawa Y., Graf W.D., Wong H., et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase gene mutations. Neurology 2001, 56:260-263.
-
(2001)
Neurology
, vol.56
, pp. 260-263
-
-
Furukawa, Y.1
Graf, W.D.2
Wong, H.3
-
35
-
-
0036225503
-
Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia
-
Furukawa Y., Kapatos G., Haycock J.W., et al. Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Ann Neurol 2002, 51:637-641.
-
(2002)
Ann Neurol
, vol.51
, pp. 637-641
-
-
Furukawa, Y.1
Kapatos, G.2
Haycock, J.W.3
-
36
-
-
7244251644
-
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations
-
Furukawa Y., Filiano J.J., Kish S.J. Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. Mov Disord 2004, 19:1256-1258.
-
(2004)
Mov Disord
, vol.19
, pp. 1256-1258
-
-
Furukawa, Y.1
Filiano, J.J.2
Kish, S.J.3
-
37
-
-
0041370580
-
Selective pathology, disease pathogenesis and function in the basal ganglia
-
Elsevier, Amsterdam, J. Kimura, H. Shibasaki (Eds.)
-
Gibb W.R.G. Selective pathology, disease pathogenesis and function in the basal ganglia. Recent Advances in Clinical Neurophysiology 1996, 1009-1015. Elsevier, Amsterdam. J. Kimura, H. Shibasaki (Eds.).
-
(1996)
Recent Advances in Clinical Neurophysiology
, pp. 1009-1015
-
-
Gibb, W.R.G.1
-
38
-
-
37749050846
-
Tyrosine hydroxylase deficiency presenting with a biphasic clinical course
-
Givanniello T., Leuzzi V., Carducci C., et al. Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. Neuropediatrics 2007, 38:213-215.
-
(2007)
Neuropediatrics
, vol.38
, pp. 213-215
-
-
Givanniello, T.1
Leuzzi, V.2
Carducci, C.3
-
39
-
-
0036523866
-
Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy
-
Grattan-Smith P.J., Wevers R.A., Steenbergen-Spanjers G.C., et al. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord 2002, 17:354-359.
-
(2002)
Mov Disord
, vol.17
, pp. 354-359
-
-
Grattan-Smith, P.J.1
Wevers, R.A.2
Steenbergen-Spanjers, G.C.3
-
40
-
-
0011798071
-
Histochemically distinct compartments in the striatum of human, monkey and cat demonstrated by acetylthiocholinesterase staining
-
Graybiel A.M., Ragsdale C.W. Histochemically distinct compartments in the striatum of human, monkey and cat demonstrated by acetylthiocholinesterase staining. Proc Natl Acad Sci 1978, 75:5723-5726.
-
(1978)
Proc Natl Acad Sci
, vol.75
, pp. 5723-5726
-
-
Graybiel, A.M.1
Ragsdale, C.W.2
-
41
-
-
0037172668
-
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
-
Grötzsch H., Pizzolato G.P., Ghika J., et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002, 58:1839-1842.
-
(2002)
Neurology
, vol.58
, pp. 1839-1842
-
-
Grötzsch, H.1
Pizzolato, G.P.2
Ghika, J.3
-
42
-
-
34147113427
-
Intracortical inhibition of the motor cortes in Segawa disease (DYT5)
-
Hanajima R., Nomura Y., Segawa M., et al. Intracortical inhibition of the motor cortes in Segawa disease (DYT5). Neurology 2007, 68:1039-1044.
-
(2007)
Neurology
, vol.68
, pp. 1039-1044
-
-
Hanajima, R.1
Nomura, Y.2
Segawa, M.3
-
43
-
-
18544406486
-
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study
-
Hanihara T., Inoue K., Kawanishi C., et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord 1997, 12:408-411.
-
(1997)
Mov Disord
, vol.12
, pp. 408-411
-
-
Hanihara, T.1
Inoue, K.2
Kawanishi, C.3
-
45
-
-
0343170710
-
Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Hikosaka O., Fukuda H., Kato M., et al. Deficits in saccadic eye movements in hereditary progressive dystonia with marked diurnal fluctuation. Hereditary Progressive Dystonia with Marked Diurnal Fluctation 1993, 159-177. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctation
, pp. 159-177
-
-
Hikosaka, O.1
Fukuda, H.2
Kato, M.3
-
46
-
-
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., Tamura 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 Biphys Res Commun 1995, 213:645-646.
-
(1995)
Biochem Biphys Res Commun
, vol.213
, pp. 645-646
-
-
Hirano, M.1
Tamura, Y.2
Nagai, Y.3
-
47
-
-
0029829711
-
Mutant GTP cyclohydrolase I mrna levels contribute to dopa-responsive dystonia onset
-
Hirano M., Tamaru Y., Ito H., et al. 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
-
48
-
-
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
-
49
-
-
33646900155
-
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
-
Hjermind L.E., Johannsen L.G., Blau N., et al. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?. Mov Disord 2006, 21:679-682.
-
(2006)
Mov Disord
, vol.21
, pp. 679-682
-
-
Hjermind, L.E.1
Johannsen, L.G.2
Blau, N.3
-
50
-
-
17144432891
-
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
-
Hoffmann G.F., Assmann B., Brautigam C., et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003, 54:56-65.
-
(2003)
Ann Neurol
, vol.54
, pp. 56-65
-
-
Hoffmann, G.F.1
Assmann, B.2
Brautigam, C.3
-
51
-
-
0003070290
-
Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson's disease and other dopamine-dependent disorders
-
Karger, Basel, M. Segawa, Y. Nomura (Eds.)
-
Hornykiewicz O. Striatal dopamine in dopa-responsive dystonia: Comparison with idiopathic Parkinson's disease and other dopamine-dependent disorders. Age-Related Dopamine-Dependent Disorders 1995, 101-108. Karger, Basel. M. Segawa, Y. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders
, pp. 101-108
-
-
Hornykiewicz, O.1
-
52
-
-
33646085526
-
Motor system inhibition in dopa-responsive dystonia and its modulation by treatment
-
Huang Y.Z., Trender-Gerhard I., Edwards M.J., et al. Motor system inhibition in dopa-responsive dystonia and its modulation by treatment. Neurology 2006, 66:1088-1090.
-
(2006)
Neurology
, vol.66
, pp. 1088-1090
-
-
Huang, Y.Z.1
Trender-Gerhard, I.2
Edwards, M.J.3
-
53
-
-
0033801786
-
Dopa-responsive dystonia is induced by a dominant-negative mechanism
-
Hwu W.L., Chiou Y.W., Lai S.Y., et al. Dopa-responsive dystonia is induced by a dominant-negative mechanism. Ann Neurol 2000, 48:609-613.
-
(2000)
Ann Neurol
, vol.48
, pp. 609-613
-
-
Hwu, W.L.1
Chiou, Y.W.2
Lai, S.Y.3
-
54
-
-
0030898773
-
Oral phenylalanine loading in Dopa responsive dystonia; a possible diagnostic test
-
Hyland K., Fryburg J.S., Wilson W.G. 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
-
55
-
-
0343736791
-
[Progressive dystonia with marked diurnal fluctuation and tetrahydrobiopterin therapy]
-
Ibi T., Sahashi K., Watanabe K., et al. [Progressive dystonia with marked diurnal fluctuation and tetrahydrobiopterin therapy]. Neurol Ther (Tokyo) 1991, 8:71-75.
-
(1991)
Neurol Ther (Tokyo)
, vol.8
, pp. 71-75
-
-
Ibi, T.1
Sahashi, K.2
Watanabe, K.3
-
56
-
-
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. Nat Genet 1994, 8:236-242.
-
(1994)
Nat Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
-
57
-
-
0029093393
-
GTP chclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation
-
Ichinose H., Ohye T., Segawa M., et al. GTP chclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Let 1995, 196:5-8.
-
(1995)
Neurosci Let
, vol.196
, pp. 5-8
-
-
Ichinose, H.1
Ohye, T.2
Segawa, M.3
-
58
-
-
0023911515
-
[Involvement of serotonergic neurons in hereditary progressive dystonia; Clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan]
-
Ishida A., Takada G., Kobayashi Y., et al. [Involvement of serotonergic neurons in hereditary progressive dystonia; Clinical effects of tetrahydrobiopterin and 5-hydroxytryptophan]. No-To-Hattatsu (Tokyo) 1988, 20:196-199.
-
(1988)
No-To-Hattatsu (Tokyo)
, vol.20
, pp. 196-199
-
-
Ishida, A.1
Takada, G.2
Kobayashi, Y.3
-
59
-
-
0034533698
-
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
-
Janssen R.J., Wevers R.A., Haussler M., et al. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet 2000, 64:375-382.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 375-382
-
-
Janssen, R.J.1
Wevers, R.A.2
Haussler, M.3
-
60
-
-
15144343754
-
123I] β-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia
-
123I] β-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia. Ann Neurol 1998, 43:792-800.
-
(1998)
Ann Neurol
, vol.43
, pp. 792-800
-
-
Jeon, B.S.1
Jeong, J.M.2
Park, S.S.3
-
61
-
-
4544319897
-
Arg(184) His mutant GTP cyclohydrolase I causing recessive hyperphenylalaninemia is responsible for dopa-responsive dystonia with parkinsonism: a case report
-
Kikuchi A., Takeda A., Fujihara K., et al. Arg(184) His mutant GTP cyclohydrolase I causing recessive hyperphenylalaninemia is responsible for dopa-responsive dystonia with parkinsonism: a case report. Mov Disord 2003, 19:590-593.
-
(2003)
Mov Disord
, vol.19
, pp. 590-593
-
-
Kikuchi, A.1
Takeda, A.2
Fujihara, K.3
-
63
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T., Asakawa S., Hattori N., et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998, 392:605-608.
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
64
-
-
0029049876
-
Recessively inherited LEVODOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog P.M., Flatmark T., Mallet J., et al. Recessively inherited LEVODOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995, 4:1209-1212.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
-
65
-
-
23944515301
-
Subthalamic neurons coordinate basal ganglia function through differential neural pathways
-
Kobayashi K., Yasoshima Y., Kai N., et al. Subthalamic neurons coordinate basal ganglia function through differential neural pathways. J Neurosci 2005, 25:7743-7753.
-
(2005)
J Neurosci
, vol.25
, pp. 7743-7753
-
-
Kobayashi, K.1
Yasoshima, Y.2
Kai, N.3
-
66
-
-
0342431656
-
Juvenile Parkinsonian - A clinical, neuropathological, and biochemical study
-
Kondo T., Mori H., Sugita Y., et al. Juvenile Parkinsonian - A clinical, neuropathological, and biochemical study. Mov Disord 1997, 12:32.
-
(1997)
Mov Disord
, vol.12
, pp. 32
-
-
Kondo, T.1
Mori, H.2
Sugita, Y.3
-
67
-
-
0030003650
-
Apomorphine and dopamine D receptor agonists increase the firing rates of subthalamic neucleus neurons
-
Kreiss D.S., Anderson L.A., Waters J.R. Apomorphine and dopamine D receptor agonists increase the firing rates of subthalamic neucleus neurons. Neuroscience 1996, 72:863-876.
-
(1996)
Neuroscience
, vol.72
, pp. 863-876
-
-
Kreiss, D.S.1
Anderson, L.A.2
Waters, J.R.3
-
68
-
-
0021152170
-
[Five cases of dystonia with marked diurnal fluctuation and special reference to homovanillic acid in CSF]
-
Kumamoto I., Nomoto M., Yoshidome M., et al. [Five cases of dystonia with marked diurnal fluctuation and special reference to homovanillic acid in CSF]. Clin Neurol (Tokyo) 1984, 24:697-702.
-
(1984)
Clin Neurol (Tokyo)
, vol.24
, pp. 697-702
-
-
Kumamoto, I.1
Nomoto, M.2
Yoshidome, M.3
-
69
-
-
0031597417
-
D2 receptor binding in dopa-responsive dystonia
-
Kunig G., Leenders K.L., Antonini A., et al. D2 receptor binding in dopa-responsive dystonia. Ann Neurol 1988, 44:758-762.
-
(1988)
Ann Neurol
, vol.44
, pp. 758-762
-
-
Kunig, G.1
Leenders, K.L.2
Antonini, A.3
-
70
-
-
0042372335
-
Striatal dopamine D2 receptors in dopa-responsive dystonia and Parkinson's disease
-
Karger, Basel, M. Segawa, Y. Nomura (Eds.)
-
Leenders K.L., Antonini A., Meinck, et al. Striatal dopamine D2 receptors in dopa-responsive dystonia and Parkinson's disease. Age-Related Dopamine-Dependent Disorders 1995, 95-100. Karger, Basel. M. Segawa, Y. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders
, pp. 95-100
-
-
Leenders, K.L.1
Antonini, A.2
Meinck3
-
71
-
-
0032102936
-
In vivo levodopa production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of gtpcyclohydrolase I with tyrosine hydroxylase
-
Leff S.E., Rendahl K.G., Spratt S.K., et al. In vivo levodopa production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of gtpcyclohydrolase I with tyrosine hydroxylase. Exp Neurol 1998, 151:249-264.
-
(1998)
Exp Neurol
, vol.151
, pp. 249-264
-
-
Leff, S.E.1
Rendahl, K.G.2
Spratt, S.K.3
-
72
-
-
0041871337
-
Single unit analysis of thalamus in patients with dystonia
-
Lenz F.A., Seike M.S., Jaeger C.J., et al. Single unit analysis of thalamus in patients with dystonia. Mov Disord 1992, 7:126.
-
(1992)
Mov Disord
, vol.7
, pp. 126
-
-
Lenz, F.A.1
Seike, M.S.2
Jaeger, C.J.3
-
73
-
-
0037159199
-
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
-
Leuzzi V., Carducci C., Carducci C., et al. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002, 59:1241-1243.
-
(2002)
Neurology
, vol.59
, pp. 1241-1243
-
-
Leuzzi, V.1
Carducci, C.2
Carducci, C.3
-
74
-
-
60549087300
-
Pteridine cofactor in dystonia: Pathogenic and therapeutic considerations
-
LeWitt P.A., Miller L.P., Newman R.P., et al. Pteridine cofactor in dystonia: Pathogenic and therapeutic considerations. Neurology 1983, 33:161.
-
(1983)
Neurology
, vol.33
, pp. 161
-
-
LeWitt, P.A.1
Miller, L.P.2
Newman, R.P.3
-
75
-
-
0020685367
-
Treatment of dystonia with tetrahydrobiopterin
-
LeWitt P.A., Miller L.P., Newman R.P., et al. Treatment of dystonia with tetrahydrobiopterin. N Engl J Med 1983, 308:157-158.
-
(1983)
N Engl J Med
, vol.308
, pp. 157-158
-
-
LeWitt, P.A.1
Miller, L.P.2
Newman, R.P.3
-
76
-
-
0022527119
-
Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials
-
LeWitt P.A., Miller L.P., Newman R.P., et al. Tetrahydrobiopterin in dystonia: Identification of abnormal metabolism and therapeutic trials. Neurology 1986, 36:760-764.
-
(1986)
Neurology
, vol.36
, pp. 760-764
-
-
LeWitt, P.A.1
Miller, L.P.2
Newman, R.P.3
-
77
-
-
40849114590
-
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyltetrahydropterin synthase deficiency
-
Liu K.M., Liu T.T., Lee N.C., et al. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyltetrahydropterin synthase deficiency. Arch Neurol 2008, 65:387-392.
-
(2008)
Arch Neurol
, vol.65
, pp. 387-392
-
-
Liu, K.M.1
Liu, T.T.2
Lee, N.C.3
-
78
-
-
0035229974
-
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119deltgtt) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
-
Liu T.T., Chang Y.H., Chiang S.H., et al. Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119deltgtt) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Hum Mutat 2001, 18:83.
-
(2001)
Hum Mutat
, vol.18
, pp. 83
-
-
Liu, T.T.1
Chang, Y.H.2
Chiang, S.H.3
-
79
-
-
34147136701
-
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency
-
Lopez-Laso E., Camino R., Mateos M.E., et al. Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. J Neurol Sci 2007, 256:90-93.
-
(2007)
J Neurol Sci
, vol.256
, pp. 90-93
-
-
Lopez-Laso, E.1
Camino, R.2
Mateos, M.E.3
-
80
-
-
0030035985
-
Recessively inherited LEVODOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B., Knappskog P.M., Clayton P.T., et al. Recessively inherited LEVODOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996, 5:1023-1028.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
-
81
-
-
0023812070
-
[A study on catecholamine metabolites in CSF in a patient with progressive dystonia with marked diurnal fluctuation]
-
Maekawa K., Hashimoto T., Sasaki M., et al. [A study on catecholamine metabolites in CSF in a patient with progressive dystonia with marked diurnal fluctuation]. Clin Neurol (Tokyo) 1988, 28:1206-1208.
-
(1988)
Clin Neurol (Tokyo)
, vol.28
, pp. 1206-1208
-
-
Maekawa, K.1
Hashimoto, T.2
Sasaki, M.3
-
82
-
-
0018595070
-
Noradrenaline and behaviour
-
Mason S.T. Noradrenaline and behaviour. Trends Neurosci 1979, 2:82-84.
-
(1979)
Trends Neurosci
, vol.2
, pp. 82-84
-
-
Mason, S.T.1
-
83
-
-
16944362288
-
Localization of a gene for an autosomal recessive from of juvenile parkinsonism to chromosome 6q25.2-27
-
Matsumine M., Saito M., Shimoda-Matsubayashi S., et al. Localization of a gene for an autosomal recessive from of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 1997, 60:588-596.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 588-596
-
-
Matsumine, M.1
Saito, M.2
Shimoda-Matsubayashi, S.3
-
84
-
-
0002322077
-
Some characteristics of brain tyrosine hydroxylase
-
Plenum, New York, J. Mandel (Ed.)
-
McGeer E.G., McGeer P.L. Some characteristics of brain tyrosine hydroxylase. New Concepts in Neurotransmitter Regulation 1973, 53-68. Plenum, New York. J. Mandel (Ed.).
-
(1973)
New Concepts in Neurotransmitter Regulation
, pp. 53-68
-
-
McGeer, E.G.1
McGeer, P.L.2
-
85
-
-
43749094765
-
Progress in the pathogenesis and genetic of Parkinson's disease
-
Mizuno Y., Hattori N., Kubo S., et al. Progress in the pathogenesis and genetic of Parkinson's disease. Phil Trans R Son B 2008, 363:2215-2227.
-
(2008)
Phil Trans R Son B
, vol.363
, pp. 2215-2227
-
-
Mizuno, Y.1
Hattori, N.2
Kubo, S.3
-
86
-
-
0026622977
-
Neuronal constituents of postural and locomotor control systems and their interactions in cats
-
Mori S., Matsuyama K., Kohyama J., et al. Neuronal constituents of postural and locomotor control systems and their interactions in cats. Brain Dev 1992, 14:109-120.
-
(1992)
Brain Dev
, vol.14
, pp. 109-120
-
-
Mori, S.1
Matsuyama, K.2
Kohyama, J.3
-
87
-
-
0024342999
-
Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome)
-
Muller K., Homberg V., Lenard H.G. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989, 20:185-191.
-
(1989)
Neuropediatrics
, vol.20
, pp. 185-191
-
-
Muller, K.1
Homberg, V.2
Lenard, H.G.3
-
88
-
-
34447550361
-
Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: a case report
-
Nagata E., Kosakai A., Tanaka K., et al. Dopa-responsive dystonia (Segawa disease)-like disease accompanied by mental retardation: a case report. Mov Disord 2007, 22:1202-1203.
-
(2007)
Mov Disord
, vol.22
, pp. 1202-1203
-
-
Nagata, E.1
Kosakai, A.2
Tanaka, K.3
-
89
-
-
0000186570
-
Juvenile parkinsonism
-
Elsevier Science, Amsterdam
-
Narabayashi H., Yokochi M., Iizuka R., et al. Juvenile parkinsonism. Handbook of Clinical Neurology 1986, Vol. 5:153-165. Elsevier Science, Amsterdam.
-
(1986)
Handbook of Clinical Neurology
, vol.5
, pp. 153-165
-
-
Narabayashi, H.1
Yokochi, M.2
Iizuka, R.3
-
90
-
-
26044449033
-
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder
-
Neville B.G., Parascandalo R., Farrugia R., et al. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 2005, 128:2291-2296.
-
(2005)
Brain
, vol.128
, pp. 2291-2296
-
-
Neville, B.G.1
Parascandalo, R.2
Farrugia, R.3
-
91
-
-
0021344054
-
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. 1
-
Niederwieser A., Blau N., Wang M., et al. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. 1. Eur J Pediatr 1984, 141:208-214.
-
(1984)
Eur J Pediatr
, vol.141
, pp. 208-214
-
-
Niederwieser, A.1
Blau, N.2
Wang, M.3
-
92
-
-
0033844124
-
Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia
-
Nishiyama N., Yukishita S., Hagiwara S., et al. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia. Brain Dev 2000, 22:102-106.
-
(2000)
Brain Dev
, vol.22
, pp. 102-106
-
-
Nishiyama, N.1
Yukishita, S.2
Hagiwara, S.3
-
93
-
-
0342866176
-
Bromocriptine therapy in a case of hereditary progressive dystonia with marked diurnal fluctuation
-
Nomura K., Negoro T., Takesu E., et al. Bromocriptine therapy in a case of hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 1987, 9:199.
-
(1987)
Brain Dev
, vol.9
, pp. 199
-
-
Nomura, K.1
Negoro, T.2
Takesu, E.3
-
94
-
-
0041871359
-
Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Nomura Y., Segawa M. Intrafamilial and interfamilial variations of symptoms of Japanese hereditary progressive dystonia with marked diurnal fluctuation. Hereditary Progressive Dystonia with Marked Diurnal Fluctation 1993, 73-96. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctation
, pp. 73-96
-
-
Nomura, Y.1
Segawa, M.2
-
95
-
-
0343736790
-
A female case of hereditary progressive dystonia with marked diurnal fluctuation with favorable response to anticholinergic drugs for 25 years
-
Nomura Y., Kase M., Igawa C., et al. A female case of hereditary progressive dystonia with marked diurnal fluctuation with favorable response to anticholinergic drugs for 25 years. Clin Neurol 1984, 22:723.
-
(1984)
Clin Neurol
, vol.22
, pp. 723
-
-
Nomura, Y.1
Kase, M.2
Igawa, C.3
-
96
-
-
0031609927
-
Dystonias responding to levodopa and failure in biopterin metabolism
-
Nomura Y., Uetake K., Yukishita S., et al. Dystonias responding to levodopa and failure in biopterin metabolism. Adv Neurol 1998, 78:253-266.
-
(1998)
Adv Neurol
, vol.78
, pp. 253-266
-
-
Nomura, Y.1
Uetake, K.2
Yukishita, S.3
-
97
-
-
0033839130
-
Two phenotypes and anticipation observed in Japanese cases with early-onset torsion dystonia (DYT 1)
-
Nomura Y., Ikeuchi T., Tsuji S., et al. Two phenotypes and anticipation observed in Japanese cases with early-onset torsion dystonia (DYT 1). Brain Dev 2000, 22:92-101.
-
(2000)
Brain Dev
, vol.22
, pp. 92-101
-
-
Nomura, Y.1
Ikeuchi, T.2
Tsuji, S.3
-
98
-
-
0027377709
-
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
-
Nygaard T.G., Wilhelmsen K.C., Risch N.J., et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 1993, 5:386-391.
-
(1993)
Nat Genet
, vol.5
, pp. 386-391
-
-
Nygaard, T.G.1
Wilhelmsen, K.C.2
Risch, N.J.3
-
100
-
-
0027942145
-
Dopa-responsive dystonia simulating cerebral palsy
-
Nygaard T.G., Waran S.P., Levine R.A., et al. Dopa-responsive dystonia simulating cerebral palsy. Pediatr Neurol 1994, 11:236-240.
-
(1994)
Pediatr Neurol
, vol.11
, pp. 236-240
-
-
Nygaard, T.G.1
Waran, S.P.2
Levine, R.A.3
-
101
-
-
0035936605
-
SPECT imaging of the dopamine transporter in juvenile-onset dystonia
-
O'Sullivan J.D., Costa D.C., Gacinovic S., et al. SPECT imaging of the dopamine transporter in juvenile-onset dystonia. Neurology 2001, 56:266-267.
-
(2001)
Neurology
, vol.56
, pp. 266-267
-
-
O'Sullivan, J.D.1
Costa, D.C.2
Gacinovic, S.3
-
102
-
-
0027342931
-
PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa's disease): case report
-
Okada A., Nakamura K., Snow B.J., et al. PET scan study on the dopaminergic system in a Japanese patient with hereditary progressive dystonia (Segawa's disease): case report. Adv Neurol 1993, 60:591-594.
-
(1993)
Adv Neurol
, vol.60
, pp. 591-594
-
-
Okada, A.1
Nakamura, K.2
Snow, B.J.3
-
103
-
-
0030854866
-
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
-
Oppliger T., Thony B., Kluge C., et al. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Hum Mutat 1997, 10:25-35.
-
(1997)
Hum Mutat
, vol.10
, pp. 25-35
-
-
Oppliger, T.1
Thony, B.2
Kluge, C.3
-
104
-
-
0018080489
-
Progressive dystonia with marked diurnal fluctuation
-
Ouvrier R.A. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978, 4:412-417.
-
(1978)
Ann Neurol
, vol.4
, pp. 412-417
-
-
Ouvrier, R.A.1
-
105
-
-
0141502259
-
Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: evidence for a role of parkin?
-
Postuma R.B., Furukawa Y., Rogaeva E., et al. Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: evidence for a role of parkin?. Mov Disord 2003, 18:1069-1072.
-
(2003)
Mov Disord
, vol.18
, pp. 1069-1072
-
-
Postuma, R.B.1
Furukawa, Y.2
Rogaeva, E.3
-
106
-
-
0028221755
-
Dopa-responsive dystonia: pathological and biochemical observations in one case
-
Rajput A.H., Gibb W.R.G., Zhong X.H., et al. Dopa-responsive dystonia: pathological and biochemical observations in one 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
-
107
-
-
0025871949
-
Sexual differentiation of monoaminergic neuron genetic epigenetic
-
Reisert I., Pilgrim C. Sexual differentiation of monoaminergic neuron genetic epigenetic. Trends Neurosci 1991, 14:468-473.
-
(1991)
Trends Neurosci
, vol.14
, pp. 468-473
-
-
Reisert, I.1
Pilgrim, C.2
-
108
-
-
0021012293
-
Dystonia - Levodopa responsive or juvenile parkinsonism?
-
Rondot P., Ziegler M. Dystonia - Levodopa responsive or juvenile parkinsonism?. J Neural Transm Suppl 1983, 19:273-281.
-
(1983)
J Neural Transm Suppl
, vol.19
, pp. 273-281
-
-
Rondot, P.1
Ziegler, M.2
-
110
-
-
33644948642
-
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency
-
Roze E., Vidailhet M., Blau N., et al. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Mov Disord 2006, 21:263-266.
-
(2006)
Mov Disord
, vol.21
, pp. 263-266
-
-
Roze, E.1
Vidailhet, M.2
Blau, N.3
-
111
-
-
50449101430
-
Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia
-
Sato K., Sumi-Ichinose C., Kaji R., et al. Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. Proc Natl Acad Sci U S A 2008, 105:12551-12556.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 12551-12556
-
-
Sato, K.1
Sumi-Ichinose, C.2
Kaji, R.3
-
112
-
-
0025892273
-
Dopa-responsive dystonia: [F-18] Dopa positron emission tomography
-
Sawle G.B., Lenders K.L., Brooks D.J., et al. Dopa-responsive dystonia: [F-18] Dopa positron emission tomography. Ann Neurol 1991, 30:24-30.
-
(1991)
Ann Neurol
, vol.30
, pp. 24-30
-
-
Sawle, G.B.1
Lenders, K.L.2
Brooks, D.J.3
-
113
-
-
0033020992
-
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
-
Scherer-Oppliger T., Matasovic A., Laufs S., et al. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat 1999, 13:286-289.
-
(1999)
Hum Mutat
, vol.13
, pp. 286-289
-
-
Scherer-Oppliger, T.1
Matasovic, A.2
Laufs, S.3
-
114
-
-
0042372336
-
[Hereditary progressive dystonia with marked diurnal fluctuation (HPD)]
-
Segawa M. [Hereditary progressive dystonia with marked diurnal fluctuation (HPD)]. Adv Neurol Sci (Tokyo) 1981, 25:73-81.
-
(1981)
Adv Neurol Sci (Tokyo)
, vol.25
, pp. 73-81
-
-
Segawa, M.1
-
115
-
-
0033844266
-
Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia
-
Segawa M. Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia. Brain Dev 2000, 22:1-4.
-
(2000)
Brain Dev
, vol.22
, pp. 1-4
-
-
Segawa, M.1
-
116
-
-
0033839129
-
Hereditary progressive dystonia with marked diurnal fluctuation
-
Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 2000, 22:65-80.
-
(2000)
Brain Dev
, vol.22
, pp. 65-80
-
-
Segawa, M.1
-
117
-
-
0035192539
-
Discussant - pathophysiologies of Rett syndrome
-
Segawa M. Discussant - pathophysiologies of Rett syndrome. Brain Dev 2001, 23:218-223.
-
(2001)
Brain Dev
, vol.23
, pp. 218-223
-
-
Segawa, M.1
-
118
-
-
0041370567
-
Progress in Segawa's disease
-
Kluwer Academic/Plenum, New York, Y. Mizuno, A. Fisher, I. Hanin (Eds.)
-
Segawa M. Progress in Segawa's disease. Mapping the Progress of Alzheimer's Disease and Parkinson's Disease 2002, 353-359. Kluwer Academic/Plenum, New York. Y. Mizuno, A. Fisher, I. Hanin (Eds.).
-
(2002)
Mapping the Progress of Alzheimer's Disease and Parkinson's Disease
, pp. 353-359
-
-
Segawa, M.1
-
119
-
-
0006798972
-
Rapid eye movements during stage REM are modulated by nigrostriatal dopamine (NS DA) neuron?
-
Kluber Academic/Plenum Publishers, New York, G. Bernardi, M.B. Carpenter, G. Di Chiara (Eds.)
-
Segawa M., Nomura Y. Rapid eye movements during stage REM are modulated by nigrostriatal dopamine (NS DA) neuron?. The Basal Ganglia III 1991, 663-671. Kluber Academic/Plenum Publishers, New York. G. Bernardi, M.B. Carpenter, G. Di Chiara (Eds.).
-
(1991)
The Basal Ganglia III
, pp. 663-671
-
-
Segawa, M.1
Nomura, Y.2
-
121
-
-
77957924121
-
Pathophysiology of autism: evaluation of sleep and locomotion
-
Mac Keith Press, London, R. Tuchman, I. Rapin (Eds.)
-
Segawa M., Nomura Y. Pathophysiology of autism: evaluation of sleep and locomotion. Autism: A Neurological Disorder of Early Brain Development. International Review of Child Neurology Series (ICNA) 2006, 248-264. Mac Keith Press, London. R. Tuchman, I. Rapin (Eds.).
-
(2006)
Autism: A Neurological Disorder of Early Brain Development. International Review of Child Neurology Series (ICNA)
, pp. 248-264
-
-
Segawa, M.1
Nomura, Y.2
-
122
-
-
0000517582
-
[Childhood basal ganglia disease with remarkable response to Levodopa, hereditary basal ganglia disease with marked diurnal fluctuation]
-
Segawa M., Ohmi K., Itoh S., et al. [Childhood basal ganglia disease with remarkable response to Levodopa, hereditary basal ganglia disease with marked diurnal fluctuation]. Shinryo (Tokyo) 1971, 24:667-672.
-
(1971)
Shinryo (Tokyo)
, vol.24
, pp. 667-672
-
-
Segawa, M.1
Ohmi, K.2
Itoh, S.3
-
123
-
-
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
-
124
-
-
0008563464
-
Diurnally fluctuating hereditary progressive dystonia
-
Elsevier, Amsterdam, P.J. Vinken, G.W. Bruyn (Eds.)
-
Segawa M., Nomura Y., Kase M. Diurnally fluctuating hereditary progressive dystonia. Handbook of Clinical Neurology. Extrapyramidal Disorders 1986, 529-539. Elsevier, Amsterdam, Vol. 5. P.J. Vinken, G.W. Bruyn (Eds.).
-
(1986)
Handbook of Clinical Neurology. Extrapyramidal Disorders
, vol.5
, pp. 529-539
-
-
Segawa, M.1
Nomura, Y.2
Kase, M.3
-
125
-
-
0006799749
-
Roles of the basal ganglia and related structures in symptoms of dystonia
-
Kluwer Academic/Plenum Publishers, New York, M.B. Carpenter, A. Jayaraman (Eds.)
-
Segawa M., Nomura Y., Hikosaka O., et al. Roles of the basal ganglia and related structures in symptoms of dystonia. The Basal Ganglia VI 1987, 489-504. Kluwer Academic/Plenum Publishers, New York. M.B. Carpenter, A. Jayaraman (Eds.).
-
(1987)
The Basal Ganglia VI
, pp. 489-504
-
-
Segawa, M.1
Nomura, Y.2
Hikosaka, O.3
-
126
-
-
0042873365
-
Pallidotomy and thalamotomy on a case with hereditary progressive dystonia with marked diurnal fluctuation
-
Segawa M., Nomura Y., Takita K., et al. Pallidotomy and thalamotomy on a case with hereditary progressive dystonia with marked diurnal fluctuation. Mov Disord 1998, 13:165.
-
(1998)
Mov Disord
, vol.13
, pp. 165
-
-
Segawa, M.1
Nomura, Y.2
Takita, K.3
-
127
-
-
0023675161
-
Hereditary progressive dystonia with marked diurnal fluctuation: Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings
-
Segawa M., Nomura Y., Tanaka S., et al. Hereditary progressive dystonia with marked diurnal fluctuation: Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. Adv Neurol 1988, 50:367-376.
-
(1988)
Adv Neurol
, vol.50
, pp. 367-376
-
-
Segawa, M.1
Nomura, Y.2
Tanaka, S.3
-
128
-
-
0009585527
-
Long term effects of Levodopa on hereditary progressive dystonia with marked diurnal fluctuation
-
Academic Press, London, New York, R. Benecke, A. Berardelli, M. Manfredi (Eds.)
-
Segawa M., Nomura Y., Yamashita S., et al. Long term effects of Levodopa on hereditary progressive dystonia with marked diurnal fluctuation. Motor Disturbance II 1990, 305-318. Academic Press, London, New York. R. Benecke, A. Berardelli, M. Manfredi (Eds.).
-
(1990)
Motor Disturbance II
, pp. 305-318
-
-
Segawa, M.1
Nomura, Y.2
Yamashita, S.3
-
129
-
-
0041871361
-
A single gene for dystonia involves both or either of the two striatal pathway
-
Kluwer Academic/Plenum Publishers, New York, L. Bicholson, R. Baull (Eds.)
-
Segawa M., Hoshino K., Hachimori K., et al. A single gene for dystonia involves both or either of the two striatal pathway. The Basal Ganglia VI 2002, 155-163. Kluwer Academic/Plenum Publishers, New York. L. Bicholson, R. Baull (Eds.).
-
(2002)
The Basal Ganglia VI
, pp. 155-163
-
-
Segawa, M.1
Hoshino, K.2
Hachimori, K.3
-
130
-
-
0042868558
-
Autosomal dominant guanosine triphosphate cyclohydrolase i deficiency (segawa disease)
-
Segawa M., Nomura Y., Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase i deficiency (segawa disease). Ann Neurol 2003, 54:32-45.
-
(2003)
Ann Neurol
, vol.54
, pp. 32-45
-
-
Segawa, M.1
Nomura, Y.2
Nishiyama, N.3
-
131
-
-
0011209301
-
The role of the descending pallido-reticular pathway in movement disorders
-
Karger, Basel, M. Segawa, Y. Nomura (Eds.)
-
Shima F., Sakata S., Sun S.-J., et al. The role of the descending pallido-reticular pathway in movement disorders. Age-Related Dopamine-Dependent Disorders 1995, 197-207. Karger, Basel. M. Segawa, Y. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders
, pp. 197-207
-
-
Shima, F.1
Sakata, S.2
Sun, S.-J.3
-
132
-
-
0032926746
-
GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice
-
Shimoji M., Hirayama K., Hyland K., et al. GTP cyclohydrolase I gene expression in the brains of male and female hph-1 mice. J Neurochem 1999, 72:757-764.
-
(1999)
J Neurochem
, vol.72
, pp. 757-764
-
-
Shimoji, M.1
Hirayama, K.2
Hyland, K.3
-
133
-
-
0023030888
-
[Hereditary progressive dystonia - an observation of the catecholamine metabolism during Levodopa therapy in a 9-year-old girl]
-
Shimoyamada Y., Yoshikawa A., Kashii H., et al. [Hereditary progressive dystonia - an observation of the catecholamine metabolism during Levodopa therapy in a 9-year-old girl]. No-To-Hattatsu (Tokyo) 1986, 18:505-509.
-
(1986)
No-To-Hattatsu (Tokyo)
, vol.18
, pp. 505-509
-
-
Shimoyamada, Y.1
Yoshikawa, A.2
Kashii, H.3
-
134
-
-
0033933048
-
Familial Parkinson's disease gene product, Parkin, is a ubiquitin-protein ligase
-
Shimura H., Hattori N., Kubo S., et al. Familial Parkinson's disease gene product, Parkin, is a ubiquitin-protein ligase. Nat Genet 2000, 25:302-305.
-
(2000)
Nat Genet
, vol.25
, pp. 302-305
-
-
Shimura, H.1
Hattori, N.2
Kubo, S.3
-
135
-
-
79954513752
-
[Metabolic disorders of phenylalanine]
-
Shintaku H. [Metabolic disorders of phenylalanine]. Jap J Pediatric Med 2009, 41:334-430.
-
(2009)
Jap J Pediatric Med
, vol.41
, pp. 334-430
-
-
Shintaku, H.1
-
136
-
-
0042873375
-
Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young onset parkinsonism
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Snow B.J., Okada A., Martin W.R.W., et al. Positron-emission tomography scanning in dopa-responsive dystonia, parkinsonism-dystonia, and young onset parkinsonism. Hereditary Progressive Dystonia with Marked Diurnal Fluctuation 1993, 181-186. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctuation
, pp. 181-186
-
-
Snow, B.J.1
Okada, A.2
Martin, W.R.W.3
-
137
-
-
0035798563
-
Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice
-
Sumi-Ichinose C., Urano F., Kuroda R., et al. Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. J Biol Chem 2001, 276:41150-41160.
-
(2001)
J Biol Chem
, vol.276
, pp. 41150-41160
-
-
Sumi-Ichinose, C.1
Urano, F.2
Kuroda, R.3
-
138
-
-
0021927269
-
Idiopathic dystonia: parkinsonism with marked diurnal fluctuation of symptoms
-
Sunohara N., Mano Y., Ando K., et al. Idiopathic dystonia: parkinsonism with marked diurnal fluctuation of symptoms. Ann Neurol 1985, 17:39-45.
-
(1985)
Ann Neurol
, vol.17
, pp. 39-45
-
-
Sunohara, N.1
Mano, Y.2
Ando, K.3
-
139
-
-
79954464667
-
Idiopathic dystonia-parkinsonism with diurnal fluctuation: a follow-up study and magnetic resonance imaging findings
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Sunohara N., Ikeda K., Tomi H. Idiopathic dystonia-parkinsonism with diurnal fluctuation: a follow-up study and magnetic resonance imaging findings. Hereditary Progressive Dystonia with Marked Diurnal Fluctation 1993, 61-70. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctation
, pp. 61-70
-
-
Sunohara, N.1
Ikeda, K.2
Tomi, H.3
-
140
-
-
0032707912
-
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia
-
Suzuki T., Ohye T., Inagaki H., et al. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia. J Neurochem 1999, 73:2510-2516.
-
(1999)
J Neurochem
, vol.73
, pp. 2510-2516
-
-
Suzuki, T.1
Ohye, T.2
Inagaki, H.3
-
141
-
-
0028300346
-
Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia
-
Takahashi H., Levine R.A., Galloway M.P., et al. Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol 1994, 35:354-356.
-
(1994)
Ann Neurol
, vol.35
, pp. 354-356
-
-
Takahashi, H.1
Levine, R.A.2
Galloway, M.P.3
-
142
-
-
0343736767
-
Fluorodopa PET scans of juvenile parkinsonism with prominent dystonia in relation to dopa-responsive dystonia
-
Karger, Basel, M. Segawa, Y. Nomura (Eds.)
-
Takahashi H., Snow B., Nygaard T., et al. Fluorodopa PET scans of juvenile parkinsonism with prominent dystonia in relation to dopa-responsive dystonia. Age-Related Dopamine-Dependent Disorders 1995, 86-94. Karger, Basel. M. Segawa, Y. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders
, pp. 86-94
-
-
Takahashi, H.1
Snow, B.2
Nygaard, T.3
-
143
-
-
27144461526
-
[Learning abilities of the rats with lesion in the dorsal noradrenergic bundele]
-
Tanaka S., Miyagawa F., Imai H., et al. [Learning abilities of the rats with lesion in the dorsal noradrenergic bundele]. Juntendo Med J (Tokyo) 1987, 33:271-272.
-
(1987)
Juntendo Med J (Tokyo)
, vol.33
, pp. 271-272
-
-
Tanaka, S.1
Miyagawa, F.2
Imai, H.3
-
144
-
-
0024497282
-
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency)
-
Tanaka Y., Matsuo N., Tsuzaki S., et al. On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). Eur J Pediatr 1989, 148:450-452.
-
(1989)
Eur J Pediatr
, vol.148
, pp. 450-452
-
-
Tanaka, Y.1
Matsuo, N.2
Tsuzaki, S.3
-
145
-
-
0342369398
-
Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?
-
Tassin J., Durr A., Bonnet A.-M., et al. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?. Brain 2000, 123:1112-1121.
-
(2000)
Brain
, vol.123
, pp. 1112-1121
-
-
Tassin, J.1
Durr, A.2
Bonnet, A.-M.3
-
146
-
-
0030877470
-
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
-
Thony B., Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat 1997, 10:11-20.
-
(1997)
Hum Mutat
, vol.10
, pp. 11-20
-
-
Thony, B.1
Blau, N.2
-
147
-
-
79954548841
-
Positron emission tomography studies of the dopaminergic and opioid function in dopa-responsive dystonia
-
Karger, Basel, M. Segawa, Y.M. Nomura (Eds.)
-
Turjanski N., Weeks R., Sawle G.V., et al. Positron emission tomography studies of the dopaminergic and opioid function in dopa-responsive dystonia. Age-Related Dopamine-Dependent Disorders 1995, 77-86. Karger, Basel. M. Segawa, Y.M. Nomura (Eds.).
-
(1995)
Age-Related Dopamine-Dependent Disorders
, pp. 77-86
-
-
Turjanski, N.1
Weeks, R.2
Sawle, G.V.3
-
148
-
-
0033839889
-
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia
-
Ueno S., Hirano M. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia. Brain Dev 2000, 22:111-114.
-
(2000)
Brain Dev
, vol.22
, pp. 111-114
-
-
Ueno, S.1
Hirano, M.2
-
149
-
-
0015265246
-
Biochemical and behavioural changes induced by isolation in rats
-
Valzelli L., Garattini S. Biochemical and behavioural changes induced by isolation in rats. Neuropharmacology 1972, 11:17-22.
-
(1972)
Neuropharmacology
, vol.11
, pp. 17-22
-
-
Valzelli, L.1
Garattini, S.2
-
150
-
-
29644434457
-
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
-
Van Hove J.L., Steyaert J., Matthijis G., et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurosurg Psychiatry 2006, 77:18-23.
-
(2006)
J Neurosurg Psychiatry
, vol.77
, pp. 18-23
-
-
Van Hove, J.L.1
Steyaert, J.2
Matthijis, G.3
-
151
-
-
0344435235
-
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delc)
-
Wevers R.A., de Rijk-van Andel J.F., Brautigam C., et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delc). J Inherit Metab Dis 1999, 22:364-373.
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 364-373
-
-
Wevers, R.A.1
de Rijk-van Andel, J.F.2
Brautigam, C.3
-
152
-
-
42049103657
-
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH-1: redefining DYT14 as DYT5
-
Wider C., Melquist S., Hauf M., et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH-1: redefining DYT14 as DYT5. Neurology 2008, 70:1377-1383.
-
(2008)
Neurology
, vol.70
, pp. 1377-1383
-
-
Wider, C.1
Melquist, S.2
Hauf, M.3
-
153
-
-
0015590978
-
Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
-
Yamamura Y., Sobue I., Ando K., et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973, 23:239-244.
-
(1973)
Neurology
, vol.23
, pp. 239-244
-
-
Yamamura, Y.1
Sobue, I.2
Ando, K.3
-
154
-
-
0010393314
-
Parkinsonism of early-onset with diurnal fluctuation
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Yamamura Y., Hamaguchi Y., Uchida M., et al. Parkinsonism of early-onset with diurnal fluctuation. Hereditary Progressive Dystonia with Marked Diurnal Fluctation 1993, 51-59. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctation
, pp. 51-59
-
-
Yamamura, Y.1
Hamaguchi, Y.2
Uchida, M.3
-
155
-
-
0342431660
-
Clinicopathological identification of juvenile parkinsonism in reference to dopa-responsive disorders
-
Parthenon, Carnforth, M. Segawa (Ed.)
-
Yokochi M. Clinicopathological identification of juvenile parkinsonism in reference to dopa-responsive disorders. Hereditary Progressive Dystonia with Marked Diurnal Fluctation 1993, 37-47. Parthenon, Carnforth. M. Segawa (Ed.).
-
(1993)
Hereditary Progressive Dystonia with Marked Diurnal Fluctation
, pp. 37-47
-
-
Yokochi, M.1
|