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

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

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

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

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

Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain)LOPEZ-LASO, Eduardo; OCHOA-SEPULVEDA, Juan José; ARTUCH, Rafael et al.Journal of neurology. 2009, Vol 256, Num 11, pp 1816-1824, issn 0340-5354, 9 p.Article

Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiencyLOPEZ-LASO, Eduardo; CAMINO, Rafael; MATEOS, Maria Elena et al.Journal of the neurological sciences. 2007, Vol 256, Num 1-2, pp 90-93, issn 0022-510X, 4 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

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

Bilateral subthalamic nucleus deep brain stimulation for dopa-responsive dystonia in a 6-year-old child: Case reportTORMENTI, Matthew J; TOMYCZ, Nestor D; COFFMAN, Keith A et al.Journal of neurosurgery. Pediatrics. 2011, Vol 7, Num 6, pp 650-653, issn 1933-0707, 4 p.Article

GCH1 in Early-Onset Parkinson's DiseaseCOBB, Stephanie A; WIDER, Christian; CARR, Jonathan et al.Movement disorders. 2009, Vol 24, Num 14, pp 2070-2075, issn 0885-3185, 6 p.Article