Associated Papers
Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.
Farsana MK et al.
Journal of Movement Disorders, 2026
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Novelli M et al.
Movement Disorders Clinical Practice, 2024
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia.
Weissbach A et al.
Parkinsonism & Related Disorders, 2022
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P et al.
Clinical Genetics, 2021
Community-based genetic study of Parkinson's disease in Estonia.
Muldmaa M et al.
Acta Neurologica Scandinavica, 2021
Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.
Ahn TB et al.
Parkinsonism & Related Disorders, 2019
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
Giri S et al.
Journal of Molecular Neuroscience : Mn, 2019
Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou U et al.
Neurobiology of Aging, 2019
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.
Yan YP et al.
The International Journal of Neuroscience, 2017
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2014
Hereditary dystonia and parkinsonism: two sides of the same coin?
Weissbach A et al.
Brain : a Journal of Neurology, 2014
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
Naiya T et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2012
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Mayahi L et al.
Circulation. Cardiovascular Genetics, 2010
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Trender-Gerhard I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation.
Furukawa Y et al.
Neurology, 2003