Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
about
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disordersGenetic diagnosis of two dopa-responsive dystonia families by exome sequencingTreatment of dystonia.The modern pre-levodopa era of Parkinson's disease: insights into motor complications from sub-Saharan AfricaMovement disorders in adult surviving patients with maple syrup urine disease.Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians.Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Diagnosis of dystonic syndromes--a new eight-question approach.Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.Dyskinesias as a limiting factor in the treatment of Segawa disease.Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.EFNS guidelines on diagnosis and treatment of primary dystonias.Nonmotor manifestations of dystonia: a systematic review.Milestones in dystonia.Diagnostic issues in childhood and adult dystonia.The genetics of dystonia: new twists in an old tale.Emerging common molecular pathways for primary dystonia.The treatment of dystonic tremor: a systematic review.Diagnosing dopamine-responsive dystonias.Dopa-responsive dystonia--clinical and genetic heterogeneity.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Childhood dystonias.Asymmetrical leg atrophy in levodopa-responsive dystonia due to a novel GTP cyclohydrolase mutation.Transcranial sonography in dopa-responsive dystonia.Restless legs syndrome in Wilson's disease: frequency, characteristics, and mimics.Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD).Atypical presentation of dopa‐responsive dystonia in Taiwan.A new mutation of GCH1 in triplets family with dopa-responsive dystonia.Dystonia.Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability.Neuropsychological Difficulties Associated with Dopa Responsive Dystonia.
P2860
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P2860
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@en
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@nl
type
label
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@en
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@nl
prefLabel
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@en
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@nl
P2093
P50
P356
P1476
Autosomal-dominant GTPCH1-defi ...... g-term outcome of 34 patients.
@en
P2093
I Trender-Gerhard
K P Bhatia
M G Sweeney
M J Edwards
P Schwingenschuh
P304
P356
10.1136/JNNP.2008.155861
P4011
bea15a8ca60f7f8ba043874945b712020aad7d0d
P407
P577
2009-03-29T00:00:00Z