Novel GCH1 Mutation in a Brazilian Family with Dopa-Responsive DystoniaTEIXEIRA CAMARGOS, Sarah; CARDOSO, Francisco; MOMENI, Parastoo et al.Movement disorders. 2008, Vol 23, Num 2, pp 299-302, issn 0885-3185, 4 p.Article

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa diseaseLOPEZ-LASO, Eduardo; SANCHEZ-RAYA, Araceli; KLEIN, Christine et al.Journal of neurology. 2011, Vol 258, Num 12, pp 2155-2162, issn 0340-5354, 8 p.Article

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 : Redefining DYT14 as DYT5WIDER, C; MELQUIST, S; STEPHAN, D. A et al.Neurology. 2008, Vol 70, Num 16, pp 1377-1383, issn 0028-3878, 7 p., 2Article

Misdiagnoses in children with dopa-responsive dystoniaJAN, Mohammed M. S.Pediatric neurology. 2004, Vol 31, Num 4, pp 298-303, issn 0887-8994, 6 p.Article

I Familial dopa- responsive cervical dystoniaSCHNEIDER, S. A; MOHIRE, M. D; TRENDER-GERHARD, I et al.Neurology. 2006, Vol 66, Num 4, pp 599-601, issn 0028-3878, 3 p.Article

The metabolic pathology of dopa-responsive dystoniaASANUMA, Kotaro; YILONG MA; CHAORUI HUANG et al.Annals of neurology. 2005, Vol 57, Num 4, pp 596-600, issn 0364-5134, 5 p.Article

Mutation in 5' Upstream Region of GCHI Gene Causes Familial Dopa-Responsive DystoniaSHARMA, Nutan; ARMATA, Ioanna A; MULTHAUPT-BUELL, Trisha J et al.Movement disorders. 2011, Vol 26, Num 11, issn 0885-3185, p. 2140Article

Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutationUNCINI, Antonino; DE ANGELIS, Maria Vittoria; DI FULVIO, Patrizia et al.Movement disorders. 2004, Vol 19, Num 10, pp 1139-1145, issn 0885-3185, 7 p.Article

GCH1 Mutation and Clinical Study of Chinese Patients with Dopa-responsive DystoniaXIN LIU; ZHANG, Shu-Shan; FANG, Deng-Fu et al.Movement disorders. 2010, Vol 25, Num 4, pp 447-451, issn 0885-3185, 5 p.Article

Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystoniaHWU, Wuh-Liang; LU, Mei-Yi; HWA, Kuo-Yuan et al.Annals of neurology. 2004, Vol 55, Num 6, pp 875-878, issn 0364-5134, 4 p.Article

Broadening the phenotype of childhood-onset dopa-responsive dystoniaCHAILA, Elijah C; MCCABE, Dominick J. H; DELANTY, Norman et al.Archives of neurology (Chicago). 2006, Vol 63, Num 8, pp 1185-1188, issn 0003-9942, 4 p.Article

Adult-onset dystonia : Atypical manifestation of segawa diseaseREGULA, Jens Ulrich; THODEN, Uwe; MEINCK, Hans-Michael et al.Movement disorders. 2007, Vol 22, Num 9, pp 1335-1337, issn 0885-3185, 3 p.Article

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff valuesOPLADEN, Thomas; OKUN, Jürgen G; BURGARD, Peter et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 6, pp 697-703, issn 0141-8955, 7 p.Article

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaCLOT, Fabienne; GRABLI, David; DOUMMAR, Diane et al.Brain. 2009, Vol 132, pp 1753-1763, issn 0006-8950, 11 p., 7Article

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystoniaSTEINBERGER, Daniela; BLAU, Nenad; GORIUONOV, Dimitri et al.Neurogenetics (Oxford. Print). 2004, Vol 5, Num 3, pp 187-190, issn 1364-6745, 4 p.Article

Neuronal intranuclear inclusion disease : Report on a case originally diagnosed as dopa-responsive dystonia with lewy bodiesPAVIOUR, Dominic C; REVESZ, Tarn; HELTON, Janice L et al.Movement disorders. 2005, Vol 20, Num 10, pp 1345-1349, issn 0885-3185, 5 p.Article

Ataxia telangiectasia presenting as dopa-responsive cervical dystoniaCHARLESWORTH, Gavin; MOHIRE, Mahavir D; SCHNEIDER, Susanne A et al.Neurology. 2013, Vol 81, Num 13, pp 1148-1151, issn 0028-3878, 4 p.Article

Dyskinesias as a Limiting Factor in the Treatment of Segawa DiseaseLOPEZ-LASO, Eduardo; BEYER, Katrin; OPLADEN, Thomas et al.Pediatric neurology. 2012, Vol 46, Num 6, pp 404-406, issn 0887-8994, 3 p.Article

Intracortical inhibition of the motor cortex in Segawa disease (DYT5)HANAJIMA, R; NOMURA, Y; SEGAWA, M et al.Neurology. 2007, Vol 68, Num 13, pp 1039-1044, issn 0028-3878, 6 p.Article

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiencySCHILLER, A; WEVERS, R. A; STEENBERGEN, G. C. H et al.Neurology. 2004, Vol 63, Num 8, pp 1524-1526, issn 0028-3878, 3 p.Article

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variantARRABAL, Luisa; TERESA, Libertad; PEREZ, Belén et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 3, pp 183-191, issn 1364-6745, 9 p.Article

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?HJERMIND, Lena Elisabeth; JOHANNSEN, Lis Gitte; BLAU, Nenad et al.Movement disorders. 2006, Vol 21, Num 5, pp 679-682, issn 0885-3185, 4 p.Article

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiencyMØLLER, Lisbeth Birk; ROMSTAD, Anne; PAULSEN, Marianne et al.Prenatal diagnosis. 2005, Vol 25, Num 8, pp 671-675, issn 0197-3851, 5 p.Article

Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient miceZENGA, B.-Y; HEALES, S. J. R; CANEVARI, L et al.Experimental neurology (Print). 2004, Vol 190, Num 2, pp 515-524, issn 0014-4886, 10 p.Article

Clinical and Biochemical Characterization of Patients with Early Infantile Onset of Autosomal Recessive GTP Cyclohydrolase I Deficiency without HyperphenylalaninemiaOPLADEN, Thomas; HOFFMANN, Georg; HÖRSTER, Friederike et al.Movement disorders. 2011, Vol 26, Num 1, pp 157-161, issn 0885-3185, 5 p.Article