Literature DB >> 8420194

Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis.

T G Nygaard1.   

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Year:  1993        PMID： 8420194

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


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  15 in total

1.  Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Authors:  K Hyland; T G Nygaard; J M Trugman; K J Swoboda; L A Arnold; S P Sparagana
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

Authors:  Tufan Naiya; Amar K Misra; Arindam Biswas; Shyamal K Das; Kunal Ray; Jharna Ray
Journal:  J Neural Transm (Vienna)       Date:  2012-02-29       Impact factor: 3.575

3.  In vivo neurochemistry of primary focal hand dystonia: a magnetic resonance spectroscopic neurometabolite profiling study at 3T.

Authors:  Priyantha Herath; Cecile Gallea; Jan Willem van der Veen; Silvina G Horovitz; Mark Hallett
Journal:  Mov Disord       Date:  2010-12-15       Impact factor: 10.338

4.  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

Review 5.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

6.  A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene--Segawa disease.

Authors:  S Bianca; M Bianca
Journal:  J Neural Transm (Vienna)       Date:  2005-06-15       Impact factor: 3.575

7.  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

8.  Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.

Authors:  Thomas Opladen; Jürgen G Okun; Peter Burgard; Nenad Blau; Georg F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2010-07-29       Impact factor: 4.982

Review 9.  Update on pediatric dystonias: etiology, epidemiology, and management.

Authors:  Emilio Fernández-Alvarez; Nardo Nardocci
Journal:  Degener Neurol Neuromuscul Dis       Date:  2012-04-11

Review 10.  Nonmotor Symptoms in Dopa-Responsive Dystonia.

Authors:  Elena Antelmi; Maria Stamelou; Rocco Liguori; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2015-07-22
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