Literature DB >> 17410324

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.

Anna De Rosa, Carla Carducci, Italo Antonozzi, Teresa Giovanniello, Evgjeni Xhoxhi, Chiara Criscuolo, Valeria Menchise, Salvatore Striano, Alessandro Filla, Giuseppe De Michele.   

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Year:  2007        PMID： 17410324     DOI： 10.1007/s00415-006-0475-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  8 in total

1.  Familial metoclopramide-induced dystonic reactions.

Authors:  A Guala; D Mittino; P Fabbrocini; T Ghini
Journal:  Mov Disord       Date:  1992-10       Impact factor: 10.338

2.  Dystonic reactions due to metoclopramide.

Authors:  S G Allan; R C Leonard; M A Cornbleet; J F Smyth
Journal:  Lancet       Date:  1984-02-04       Impact factor: 79.321

3.  Histidine 179 mutants of GTP cyclohydrolase I catalyze the formation of 2-amino-5-formylamino-6-ribofuranosylamino-4(3H)-pyrimidinone triphosphate.

Authors:  A Bracher; M Fischer; W Eisenreich; H Ritz; N Schramek; P Boyle; P Gentili; R Huber; H Nar; G Auerbach; A Bacher
Journal:  J Biol Chem       Date:  1999-06-11       Impact factor: 5.157

4.  Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.

Authors:  K Hyland; J S Fryburg; W G Wilson; E M Bebin; L A Arnold; R S Gunasekera; R D Jacobson; E Rost-Ruffner; J M Trugman
Journal:  Neurology       Date:  1997-05       Impact factor: 9.910

5.  Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.

Authors:  N Nishiyama; S Yukishita; H Hagiwara; S Kakimoto; Y Nomura; M Segawa
Journal:  Brain Dev       Date:  2000-09       Impact factor: 1.961

6.  Zinc plays a key role in human and bacterial GTP cyclohydrolase I.

Authors:  G Auerbach; A Herrmann; A Bracher; G Bader; M Gutlich; M Fischer; M Neukamm; M Garrido-Franco; J Richardson; H Nar; R Huber; A Bacher
Journal:  Proc Natl Acad Sci U S A       Date:  2000-12-05       Impact factor: 11.205

7.  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

8.  Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

Authors:  T G Nygaard; K C Wilhelmsen; N J Risch; D L Brown; J M Trugman; T C Gilliam; S Fahn; D E Weeks
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330
  8 in total

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