Masaya Segawa Selected Research

Dopa-responsive Dystonia

3/2011	Hereditary progressive dystonia with marked diurnal fluctuation.
1/2011	Dopa-responsive dystonia.
1/2009	Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
1/2004	Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
1/2003	Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

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Masaya Segawa Research Topics

Disease

5	Dopa-responsive Dystonia 03/2011 - 01/2003
4	Rett Syndrome (Rett's Disorder) 02/2007 - 05/2002
2	Disease Progression 09/2011 - 11/2007
2	Dystonia (Limb Dystonia) 11/2008 - 11/2003
2	Tourette Syndrome (Tourette's Syndrome) 12/2003 - 11/2003
1	Dyskinesias (Dyskinesia) 12/2011
1	Parkinsonian Disorders (Parkinsonism) 12/2011
1	Muscle Hypotonia (Hypotonia) 09/2011
1	B BH4-Deficient Hyperphenylalaninemia 01/2011
1	Infections 07/2007
1	Neurodevelopmental Disorders 04/2005
1	Juvenile gout 05/2004
1	Cystic Kidney Diseases (Cystic Kidney Disease) 05/2004
1	Myasthenia Gravis 02/2004
1	Basal Ganglia Diseases (Basal Ganglia Disease) 12/2003
1	Early-onset ataxia with oculomotor apraxia and hypoalbuminemia 11/2003

Drug/Important Bio-Agent (IBA)

5	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 12/2011 - 11/2003
3	Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA 03/2011 - 11/2007
3	Dopamine (Intropin)FDA LinkGeneric 03/2011 - 12/2003
3	Methyl-CpG-Binding Protein 2IBA 02/2007 - 05/2002
1	Dihydroxyphenylalanine (Dopa)IBA 12/2011
1	Serotonin (5 Hydroxytryptamine)IBA 09/2011
1	sapropterin (tetrahydrobiopterin)FDA Link 03/2011
1	PteridinesIBA 01/2011
1	EnzymesIBA 01/2011
1	Levodopa (L Dopa)FDA LinkGeneric 11/2008
1	Trihexyphenidyl (Artane)FDA LinkGeneric 11/2008
1	SuperantigensIBA 07/2007
1	Insulin-Like Growth Factor Binding Protein 3IBA 02/2007
1	Biological ProductsIBA 04/2005
1	UromodulinIBA 05/2004
1	Uric Acid (Urate)IBA 05/2004
1	Hepatocyte Nuclear Factor 1-betaIBA 05/2004
1	HLA-DR Antigens (HLA-DR)IBA 02/2004
1	1- Methyl- 4- phenyl- 1,2,3,6- tetrahydropyridine (MPTP)IBA 12/2003
1	Dopamine Receptors (Dopamine Receptor)IBA 12/2003
1	Guanosine Triphosphate (GTP)IBA 01/2003

Therapy/Procedure

2	Therapeutics 09/2011 - 11/2008