Literature DB >> 9120469

A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

K Beyer, J I Lao-Villadóniga, B Vecino-Bilbao, R Cacabelos, R De la Fuente-Fernández.   

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Year:  1997        PMID： 9120469      PMCID： PMC1074112          DOI： 10.1136/jnnp.62.4.420

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  2 in total

1.  Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

2.  Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

Authors:  O Bandmann; T G Nygaard; R Surtees; C D Marsden; N W Wood; A E Harding
Journal:  Hum Mol Genet       Date:  1996-03       Impact factor: 6.150
  2 in total
  3 in total

1.  Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

Authors:  Eduardo López-Laso; Juan José Ochoa-Sepúlveda; Juan José Ochoa-Amor; Enrique Bescansa-Heredero; Rafael Camino-León; Francisco Javier Gascón-Jiménez; Maria Elena Mateos-González; Juan Luis Pérez-Navero; José Ignacio Lao-Villadóniga; Aida Ormazabal; Rafael Artuch; Katrin Beyer
Journal:  J Neurol       Date:  2009-06-16       Impact factor: 4.849

2.  Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

Authors:  Eduardo López-Laso; Araceli Sánchez-Raya; Juan Antonio Moriana; Eduardo Martínez-Gual; Rafael Camino-León; María Elena Mateos-González; Juan Luis Pérez-Navero; Juan José Ochoa-Sepúlveda; Aida Ormazabal; Thomas Opladen; Christine Klein; José Ignacio Lao-Villadóniga; Katrin Beyer; Rafael Artuch
Journal:  J Neurol       Date:  2011-05-10       Impact factor: 4.849

Review 3.  Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Authors:  T Nagatsu; H Ichinose
Journal:  Mol Neurobiol       Date:  1999-02       Impact factor: 5.590
  3 in total

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