Common and rare GCH1 variants are associated with Parkinson's disease

[1]  Xiaoli Si,et al.  Study of GCH1 and TH genes in Chinese patients with Parkinson's disease , 2018, Neurobiology of Aging.

[2]  Xiong Zhang,et al.  Association analyses of variants of SIPA1L2, MIR4697, GCH1, VPS13C, and DDRGK1 with Parkinson's disease in East Asians , 2018, Neurobiology of Aging.

[3]  V. Kostic,et al.  GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. , 2017, Parkinsonism & related disorders.

[4]  S. Schneider,et al.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature , 2017, Movement disorders : official journal of the Movement Disorder Society.

[5]  M. Nalls,et al.  A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci , 2017, Nature Genetics.

[6]  K. Xia,et al.  Rare GCH1 heterozygous variants contributing to Parkinson's disease. , 2017, Brain : a journal of neurology.

[7]  Xinglong Yang,et al.  Polymorphism in MIR4697 but not VPS13C, GCH1, or SIPA1L2 is associated with risk of Parkinson’s disease in a Han Chinese population , 2017, Neuroscience Letters.

[8]  R. Bhidayasiri,et al.  Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians , 2017, Journal of movement disorders.

[9]  C. Lill Genetics of Parkinson's disease. , 2016, Molecular and cellular probes.

[10]  Y. Dauvilliers,et al.  Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease , 2016, Neurobiology of Aging.

[11]  L. Forsgren,et al.  Low frequency of GCH1 and TH mutations in Parkinson's disease. , 2016, Parkinsonism & related disorders.

[12]  Andrew B Singleton,et al.  Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance , 2016, Journal of neurochemistry.

[13]  Francisco Vives,et al.  Analysis of the genetic variability in Parkinson's disease from Southern Spain , 2016, Neurobiology of Aging.

[14]  M. Farrer,et al.  Parkinsonism in GTP cyclohydrolase 1 mutation carriers. , 2015, Brain : a journal of neurology.

[15]  K. Morrison,et al.  Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease , 2015, Parkinsonism & related disorders.

[16]  C. Klein,et al.  Hereditary dystonia and parkinsonism: two sides of the same coin? , 2014, Brain : a journal of neurology.

[17]  A. Singleton,et al.  Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers , 2014, Brain : a journal of neurology.

[18]  Chuong B. Do,et al.  Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease , 2014, Nature Genetics.

[19]  Jeremy R. B. Newman,et al.  Lack of reproducibility in re-evaluating associations between GCH1 polymorphisms and Parkinson's disease and isolated dystonia in an Australian case--control group. , 2014, Parkinsonism & related disorders.

[20]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[21]  M. Rieder,et al.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.

[22]  P. Clayton,et al.  The monoamine neurotransmitter disorders: an expanding range of neurological syndromes , 2011, The Lancet Neurology.

[23]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[24]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[25]  Huidong Tang,et al.  H1/H1 genotype influences symptom severity in corticobasal syndrome , 2010, Movement disorders : official journal of the Movement Disorder Society.

[26]  M. Farrer,et al.  GCH1 in early‐onset Parkinson's disease , 2009, Movement disorders : official journal of the Movement Disorder Society.

[27]  N. Hattori,et al.  A new mutation in the GCH1 gene presents as early-onset Parkinsonism. , 2009, Parkinsonism & related disorders.

[28]  A. Romstad,et al.  Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early‐onset Parkinson's Disease , 2006, European journal of neurology.

[29]  S. Kish,et al.  Amantadine for levodopa‐induced choreic dyskinesia in compound heterozygotes for GCH1 mutations , 2004, Movement disorders : official journal of the Movement Disorder Society.

[30]  F. Cardona,et al.  Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. , 2002, Neurology.

[31]  S. Kish,et al.  Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations , 1998, Annals of neurology.

[32]  J. Hughes,et al.  Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. , 1992, Journal of neurology, neurosurgery, and psychiatry.