-
1
-
-
0031721663
-
Biochemical hallmarks of tyrosine hydroxylase deficiency
-
Brautigam C, Wevers RA, Jansen RJT, 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.T.3
-
2
-
-
77952995720
-
Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis
-
Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 2010;133: 1810-1822.
-
(2010)
Brain
, vol.133
, pp. 1810-1822
-
-
Willemsen, M.A.1
Verbeek, M.M.2
Kamsteeg, E.J.3
-
3
-
-
0032710990
-
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
-
Brautigam C, Steenbergen-Spanjers GCH, Hoffmann GF, 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.H.2
Hoffmann, G.F.3
-
4
-
-
17744394691
-
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical resentation
-
De Lonlay P, Nassogne MC, van Gennip AH, et al. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical resentation. J Inherit Metab Dis 2000;23:819-825.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 819-825
-
-
De Lonlay, P.1
Nassogne, M.C.2
Van Gennip, A.H.3
-
5
-
-
0034719035
-
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency
-
de Rijk-van Andel JF, Gabreels FJM, Geurtz B, et al. 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.M.2
Geurtz, B.3
-
6
-
-
22844448859
-
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections
-
Diepold K, Schutz B, Rostasy K, et al. Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. Mov Disord 2005;20:764-767.
-
(2005)
Mov Disord
, vol.20
, pp. 764-767
-
-
Diepold, K.1
Schutz, B.2
Rostasy, K.3
-
7
-
-
63449095782
-
Tyrosine hydroxylase deficiency with severe clinical course
-
Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab 2009;97:18-20.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 18-20
-
-
Zafeiriou, D.I.1
Willemsen, M.A.2
Verbeek, M.M.3
Vargiami, E.4
Ververi, A.5
Wevers, R.6
-
8
-
-
34848916085
-
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis
-
Ribases M, Serrano M, Fernandez-Alvarez E, et al. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol Genet Metab 2007; 92:274-277.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 274-277
-
-
Ribases, M.1
Serrano, M.2
Fernandez-Alvarez, E.3
-
9
-
-
36148933338
-
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
-
Verbeek MM, Steenbergen-Spanjers GC, Willemsen MA, et al. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann Neurol 2007;62:422-426.
-
(2007)
Ann Neurol
, vol.62
, pp. 422-426
-
-
Verbeek, M.M.1
Steenbergen-Spanjers, G.C.2
Willemsen, M.A.3
-
10
-
-
17144432891
-
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
-
Hoffmann GF, Assmann B, Brautigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol 2003;54: S56-S65.
-
(2003)
Ann Neurol
, vol.54
-
-
Hoffmann, G.F.1
Assmann, B.2
Brautigam, C.3
-
11
-
-
0037154246
-
Myoclonus dystonia: Possible association with obsessivecompulsive disorder and alcohol dependence
-
Saunders-Pullman R, Shriberg J, Heiman G, et al. Myoclonus dystonia: possible association with obsessivecompulsive disorder and alcohol dependence. Neurology 2002;58:242-245.
-
(2002)
Neurology
, vol.58
, pp. 242-245
-
-
Saunders-Pullman, R.1
Shriberg, J.2
Heiman, G.3
-
12
-
-
67651146609
-
"Jerky" dystonia in children: Spectrum of phenotypes and genetic testing
-
Asmus F, Langseth A, Doherty E, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord 2009;24:702-709.
-
(2009)
Mov Disord
, vol.24
, pp. 702-709
-
-
Asmus, F.1
Langseth, A.2
Doherty, E.3
-
13
-
-
33847029189
-
Myoclonusdystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
-
Hess CW, Raymond D, Aguiar Pde C, et al. Myoclonusdystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007;68: 522-524.
-
(2007)
Neurology
, vol.68
, pp. 522-524
-
-
Hess, C.W.1
Raymond, D.2
Aguiar Pde, C.3
-
14
-
-
34249100202
-
Refinement of the DYT15 locus in myoclonus dystonia
-
Han F, Racacho L, Lang AE, Bulman DE, Grimes DA. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord 2007;22:888-892.
-
(2007)
Mov Disord
, vol.22
, pp. 888-892
-
-
Han, F.1
Racacho, L.2
Lang, A.E.3
Bulman, D.E.4
Grimes, D.A.5
-
15
-
-
3442887465
-
Genetic heterogeneity in ten families with myoclonus-dystonia
-
Schule B, Kock N, Svetel M, et al. Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004;75:1181-1185.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1181-1185
-
-
Schule, B.1
Kock, N.2
Svetel, M.3
-
16
-
-
39549102002
-
Myoclonusdystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
-
Nardocci N, Zorzi G, Barzaghi C, et al. Myoclonusdystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 2008;23: 28-34.
-
(2008)
Mov Disord
, vol.23
, pp. 28-34
-
-
Nardocci, N.1
Zorzi, G.2
Barzaghi, C.3
-
17
-
-
27644437164
-
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
-
Asmus F, Salih F, Hjermind LE, et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005;58:792-797.
-
(2005)
Ann Neurol
, vol.58
, pp. 792-797
-
-
Asmus, F.1
Salih, F.2
Hjermind, L.E.3
-
18
-
-
0028956673
-
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1
-
Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Schwartz CE. Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin Genet 1995;47: 90-95.
-
(1995)
Clin Genet
, vol.47
, pp. 90-95
-
-
Marinoni, J.C.1
Stevenson, R.E.2
Evans, J.P.3
Geshuri, D.4
Phelan, M.C.5
Schwartz, C.E.6
-
19
-
-
80055091462
-
Expanding the phenomenology of benign hereditary chorea: Evolution from chorea to myoclonus and dystonia
-
Armstrong MJ, Shah BB, Chen R, Angel MJ, Lang AE. Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 2011;26:2296-2297.
-
(2011)
Mov Disord
, vol.26
, pp. 2296-2297
-
-
Armstrong, M.J.1
Shah, B.B.2
Chen, R.3
Angel, M.J.4
Lang, A.E.5
-
20
-
-
0037159199
-
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
-
Leuzzi V, Carducci C, Cardona F, Artiola C, Antonozzi I. 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
Cardona, F.3
Artiola, C.4
Antonozzi, I.5
-
21
-
-
0036589965
-
Myoclonic dystonia as unique presentation of isolated vitamin e deficiency in a young patient
-
Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord 2002;17:612-614.
-
(2002)
Mov Disord
, vol.17
, pp. 612-614
-
-
Angelini, L.1
Erba, A.2
Mariotti, C.3
Gellera, C.4
Ciano, C.5
Nardocci, N.6
-
22
-
-
67650087651
-
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with dopa-responsive dystonia
-
Clot F, Grabli D, Cazeneuve C, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with dopa-responsive dystonia. Brain 2009;132:1753-1763.
-
(2009)
Brain
, vol.132
, pp. 1753-1763
-
-
Clot, F.1
Grabli, D.2
Cazeneuve, C.3
-
23
-
-
67349085037
-
Disorders of biopterin metabolism
-
Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis 2009;32:333-342.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 333-342
-
-
Longo, N.1
-
24
-
-
46149085849
-
Mitochondrial diseases mimicking neurotransmitter defects
-
Garcia-Cazorla A, Duarte S, Serrano M, et al. Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion 2008;8:273-278.
-
(2008)
Mitochondrion
, vol.8
, pp. 273-278
-
-
Garcia-Cazorla, A.1
Duarte, S.2
Serrano, M.3
-
25
-
-
77953121439
-
Movement disorders in neuro-metabolic diseases
-
Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A. Movement disorders in neuro-metabolic diseases. Eur J Paediatr Neurol 2010;14:304-307.
-
(2010)
Eur J Paediatr Neurol
, vol.14
, pp. 304-307
-
-
Gouider-Khouja, N.1
Kraoua, I.2
Benrhouma, H.3
Fraj, N.4
Rouissi, A.5
-
26
-
-
41349090135
-
Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations
-
Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology 2008;70:1010-1016.
-
(2008)
Neurology
, vol.70
, pp. 1010-1016
-
-
Roze, E.1
Apartis, E.2
Clot, F.3
-
27
-
-
33646411481
-
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
-
Tezenas du Montcel S, Clot F, Vidailhet M, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet 2006;43:394-400.
-
(2006)
J Med Genet
, vol.43
, pp. 394-400
-
-
Tezenas Du Montcel, S.1
Clot, F.2
Vidailhet, M.3
-
28
-
-
0036523866
-
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
-
Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VSC, Earl J, Wilcken B. 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
Fung, V.S.C.4
Earl, J.5
Wilcken, B.6
-
29
-
-
0344435235
-
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
-
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 (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
-
30
-
-
79551652126
-
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
-
Yeung WL, Wong VC, Chan KY, et al. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. J Child Neurol 2011;26:179-187.
-
(2011)
J Child Neurol
, vol.26
, pp. 179-187
-
-
Yeung, W.L.1
Wong, V.C.2
Chan, K.Y.3
-
31
-
-
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 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
-
32
-
-
0028984349
-
L-DOPA is converted to dopamine in serotonergic fibers of the striatum of the rat: A double-labeling immunofluorescence study
-
Arai R, Karasawa N, Geffard M, Nagatsu I. L-DOPA is converted to dopamine in serotonergic fibers of the striatum of the rat: a double-labeling immunofluorescence study. Neurosci Lett 1995;195:195-198.
-
(1995)
Neurosci Lett
, vol.195
, pp. 195-198
-
-
Arai, R.1
Karasawa, N.2
Geffard, M.3
Nagatsu, I.4
-
33
-
-
0029671293
-
Aromatic L-amino acid decarboxylase is present in serotonergic fibers of the striatum of the rat: A double-labeling immunofluorescence study
-
Arai R, Karasawa N, Nagatsu I. Aromatic L-amino acid decarboxylase is present in serotonergic fibers of the striatum of the rat: a double-labeling immunofluorescence study. Brain Res 1996;706:177-179.
-
(1996)
Brain Res
, vol.706
, pp. 177-179
-
-
Arai, R.1
Karasawa, N.2
Nagatsu, I.3
-
34
-
-
38649101598
-
Long-term L-DOPA treatment causes indiscriminate increase in dopamine levels at the cost of serotonin synthesis in discrete brain regions of rats
-
Borah A, Mohanakumar KP. Long-term L-DOPA treatment causes indiscriminate increase in dopamine levels at the cost of serotonin synthesis in discrete brain regions of rats. Cell Mol Neurobiol 2007;27:985-996.
-
(2007)
Cell Mol Neurobiol
, vol.27
, pp. 985-996
-
-
Borah, A.1
Mohanakumar, K.P.2
-
35
-
-
78650591431
-
Chronic L-DOPA therapy alters central serotonergic function and L-DOPA-induced dopamine release in a regiondependent manner in a rat model of Parkinson's disease
-
Navailles S, Bioulac B, Gross C, De Deurwaerdere P. Chronic L-DOPA therapy alters central serotonergic function and L-DOPA-induced dopamine release in a regiondependent manner in a rat model of Parkinson's disease. Neurobiol Dis 2011;41:585-590.
-
(2011)
Neurobiol Dis
, vol.41
, pp. 585-590
-
-
Navailles, S.1
Bioulac, B.2
Gross, C.3
De Deurwaerdere, P.4
-
36
-
-
0031054257
-
Tyrosine hydroxylase gene promoter activity is regulated by both cyclic AMP-responsive element and AP1 sites following calcium influx: Evidence for cyclic AMPresponsive element binding protein-independent regulation
-
Nagamoto-Combs K, Piech KM, Best JA, Sun B, Tank AW. Tyrosine hydroxylase gene promoter activity is regulated by both cyclic AMP-responsive element and AP1 sites following calcium influx: evidence for cyclic AMPresponsive element binding protein-independent regulation. J Biol Chem 1997;272:6051-6058.
-
(1997)
J Biol Chem
, vol.272
, pp. 6051-6058
-
-
Nagamoto-Combs, K.1
Piech, K.M.2
Best, J.A.3
Sun, B.4
Tank, A.W.5
-
37
-
-
0029095907
-
The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice
-
Lazaroff M, Patankar S, Yoon SO, Chikaraishi DM. The cyclic AMP response element directs tyrosine hydroxylase expression in catecholaminergic central and peripheral nervous system cell lines from transgenic mice. J Biol Chem 1995;270:21579-21589.
-
(1995)
J Biol Chem
, vol.270
, pp. 21579-21589
-
-
Lazaroff, M.1
Patankar, S.2
Yoon, S.O.3
Chikaraishi, D.M.4
-
38
-
-
0030814764
-
Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription
-
Tinti C, Yang C, Seo H, et al. Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. J Biol Chem 1997;272: 19158-19164.
-
(1997)
J Biol Chem
, vol.272
, pp. 19158-19164
-
-
Tinti, C.1
Yang, C.2
Seo, H.3
-
39
-
-
0031901965
-
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
-
van den Heuvel L, Luiten B, Smeitink JAM, et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. Hum Genet 1998;102:644-646.
-
(1998)
Hum Genet
, vol.102
, pp. 644-646
-
-
Van Den Heuvel, L.1
Luiten, B.2
Smeitink, J.A.M.3
-
40
-
-
77953529049
-
Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation
-
Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three greek patients with a common ancestral mutation. Mov Disord 2010;25:1086-1090.
-
(2010)
Mov Disord
, vol.25
, pp. 1086-1090
-
-
Pons, R.1
Serrano, M.2
Ormazabal, A.3
|