Literature DB >> 9750924

Atypical presentations of dopa-responsive dystonia.

O Bandmann1, C D Marsden, N W Wood.   

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Year:  1998        PMID: 9750924

Source DB:  PubMed          Journal:  Adv Neurol        ISSN: 0091-3952


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  5 in total

1.  Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors:  J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-01       Impact factor: 10.154

Review 2.  Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors:  Subhashie Wijemanne; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2015-06-23       Impact factor: 42.937

3.  Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.

Authors:  Eoin Mulroy; Allan McCarthy; Tim Lynch; Danny Costello; Owen A Ross
Journal:  Mov Disord       Date:  2014-01-28       Impact factor: 10.338

Review 4.  Atypical presentation of dopa-responsive dystonia in Taiwan.

Authors:  Yi Ching Weng; Chun Chieh Wang; Yih Ru Wu
Journal:  Brain Behav       Date:  2018-01-20       Impact factor: 2.708

5.  GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Authors:  B Garavaglia; F Invernizzi; M L Agostoni Carbone; V Viscardi; F Saracino; D Ghezzi; M Zeviani; G Zorzi; N Nardocci
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

  5 in total

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