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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

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

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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

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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

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