Published in Brain on July 02, 2014
Dopa-responsive dystonia--clinical and genetic heterogeneity. Nat Rev Neurol (2015) 1.10
Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease. Hum Mol Genet (2015) 0.82
The Concept of Prodromal Parkinson's Disease. J Parkinsons Dis (2015) 0.81
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain (2014) 0.79
Parkinsonism in GTP cyclohydrolase 1 mutation carriers. Brain (2014) 0.79
A new knock-in mouse model of l-DOPA-responsive dystonia. Brain (2015) 0.79
Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia. Brain (2014) 0.79
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain (2014) 0.78
Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses. Tremor Other Hyperkinet Mov (N Y) (2015) 0.78
Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease. Parkinsonism Relat Disord (2015) 0.77
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurol (2016) 0.77
Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease. Parkinsons Dis (2016) 0.76
GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia. Mov Disord (2015) 0.75
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain (2014) 0.75
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiol Aging (2016) 0.75
Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect? Front Aging Neurosci (2017) 0.75
Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias? Front Neurol (2017) 0.75
Parkinsonism in Association with Dihydropteridine Reductase Deficiency. Case Rep Neurol (2017) 0.75
Hereditary dystonia and parkinsonism: two sides of the same coin? Brain (2014) 0.75
Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity. Neurobiol Aging (2016) 0.75
Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians. J Mov Disord (2017) 0.75
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain (2017) 0.75
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry (1992) 33.67
Parkinson's disease. Lancet (2009) 6.60
A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet (2011) 3.16
Does levodopa accelerate the pathologic process in Parkinson disease brain? Neurology (2011) 3.10
New pathologic observations in juvenile onset parkinsonism with dystonia. Neurology (1991) 1.57
The genetics and neuropathology of Parkinson's disease. Acta Neuropathol (2012) 1.56
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry (2009) 1.46
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet (1996) 1.38
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain (2000) 1.36
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology (2005) 1.34
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes. Lancet Neurol (2011) 1.30
Imaging essential tremor. Mov Disord (2010) 1.27
Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol (1998) 1.25
Longitudinal evolution of compensatory changes in striatal dopamine processing in Parkinson's disease. Brain (2011) 1.20
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology (1998) 1.19
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology (1999) 1.16
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov Disord (2012) 1.13
Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol (2003) 1.12
Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism. Ann Neurol (1993) 1.06
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. Eur J Neurol (2006) 1.04
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology (2002) 1.04
Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia. Ann Neurol (1998) 1.00
Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol (1992) 0.99
Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology (1990) 0.99
Dopamine protects neurons against glutamate-induced excitotoxicity. Cell Death Dis (2013) 0.98
Activation of phosphoinositide 3-kinase by D2 receptor prevents apoptosis in dopaminergic cell lines. Biochem J (2003) 0.97
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. Mov Disord (2004) 0.97
Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol (1993) 0.96
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Mov Disord (2006) 0.96
Comparison between the decrease of dopamine transporter and that of L-DOPA uptake for detection of early to advanced stage of Parkinson's disease in animal models. Synapse (1999) 0.96
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report. Parkinsonism Relat Disord (2011) 0.94
Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord (2003) 0.94
Automatic semi-quantification of [123I]FP-CIT SPECT scans in healthy volunteers using BasGan version 2: results from the ENC-DAT database. Eur J Nucl Med Mol Imaging (2012) 0.93
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab (2004) 0.89
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J Neurol Neurosurg Psychiatry (1997) 0.88
Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one? Neurology (2013) 0.88
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Mov Disord (2010) 0.88
Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann Neurol (1994) 0.88
The phenylalanine loading test in the differential diagnosis of dystonia. Neurology (2003) 0.87
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis (2004) 0.87
Dopa-responsive dystonia is induced by a dominant-negative mechanism. Ann Neurol (2000) 0.86
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia. Parkinsonism Relat Disord (2013) 0.85
Brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia. Ann Neurol (2002) 0.85
Dopa-responsive dystonia: some pieces of the puzzle are still missing. Neurology (1998) 0.85
The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study. J Neurol Sci (1996) 0.85
A case of parkinsonism and dopa-induced severe dyskinesia associated with novel mutation in the GTP cyclohydrolase I gene. Parkinsonism Relat Disord (2011) 0.85
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease. JIMD Rep (2012) 0.84
Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia. Neurology (1993) 0.84
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. Mov Disord (2004) 0.84
GCH1 in early-onset Parkinson's disease. Mov Disord (2009) 0.83