Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
about
Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 childrenSleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistSleep and rhythm consequences of a genetically induced loss of serotonin.Clinical spectrum of dopa-responsive dystonia and related disordersGTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Commentary: Dopaminergic dysfunction in DYT1 dystonia.Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutationsStudy of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.Nonmotor manifestations of dystonia: a systematic review.Milestones in dystonia.The genetics of dystonia: new twists in an old tale.Dopa-responsive dystonia--clinical and genetic heterogeneity.Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.Paroxysmal Kinesigenic Dyskinesia-like Symptoms in a Patient with Tourette Syndrome.Impaired sleep quality and restless legs syndrome in idiopathic focal dystonia: a controlled study.Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Atypical presentation of dopa‐responsive dystonia in Taiwan.Management of Psychosis in a Patient with Probable Dopa-Responsive Dystonia.
P2860
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P2860
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@ast
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@en
type
label
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@ast
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@en
prefLabel
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@ast
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency.
@en
P2093
P2860
P50
P356
P1476
Expanded motor and psychiatric ...... GTP cyclohydrolase deficiency
@en
P2093
D Goriounov
G Matthijs
J L K Van Hove
P2860
P356
10.1136/JNNP.2004.051664
P407
P577
2006-01-01T00:00:00Z