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MC_PC_09003

Funded outputs count: 33
Funder award ID: MC_PC_09003
OpenAlex ID: G4635709268
Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report
2017 · Brendan P. Norman, Steven J. Lubbe, et al. · BMC Neurology · 9
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Establishing the role of rare coding variants in known Parkinson's disease risk loci
2017 · Iris E. Jansen, J. Raphael Gibbs, et al. · Neurobiology of Aging · 18
Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study
2017 · Alastair J. Noyce, Demis A. Kia, et al. · PLoS Medicine · 175
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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
2017 · Cornelis Blauwendraat, Faraz Faghri, et al. · Neurobiology of Aging · 142
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Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
2016 · Steven J. Lubbe, Valentina Escott-Price, et al. · Human Molecular Genetics · 61
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Equating scores of the University of Pennsylvania Smell Identification Test and Sniffin' Sticks test in patients with Parkinson's disease
2016 · Michael Lawton, Michele T.M. Hu, et al. · Parkinsonism & Related Disorders · 64
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Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease
2016 · Naveed Malek, Michael A. Lawton, et al. · Movement Disorders · 158
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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
2015 · Niccolo E. Mencacci, Ignacio Rubio-Agusti, et al. · The American Journal of Human Genetics · 145
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Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
2015 · Gavin Charlesworth, Plamena R. Angelova, et al. · The American Journal of Human Genetics · 102
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Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
2014 · Niccolo E. Mencacci, Alan M. Pittman, et al. · Brain · 6
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
2014 · Mike A Nalls, 23andMe, et al. · Nature Genetics · 1,888
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Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
2014 · Niccolò E. Mencacci, Ioannis U. Isaias, et al. · Brain · 201
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Analysis of Parkinson's disease brain–derived DNA for alpha‐synuclein coding somatic mutations
2014 · Christos Proukakis, Maryiam Shoaee, et al. · Movement Disorders · 22
Assessment of Parkinson's disease risk loci in Greece
2013 · Eleanna Kara, Georgia Xiromerisiou, et al. · Neurobiology of Aging · 18
Genetic comorbidities in Parkinson's disease
2013 · M. A. Nalls, M. Saad, et al. · Human Molecular Genetics · 73
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Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk
2013 · Valentina Moskvina · JAMA Neurology · 61
A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
2013 · Michael A. Nalls, Raquel Duran, et al. · JAMA Neurology · 439
Somatic alpha‐synuclein mutations in Parkinson's disease: Hypothesis and preliminary data
2013 · Christos Proukakis, Henry Houlden, et al. · Movement Disorders · 72
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Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease
2013 · Gavin Hudson, Mike Nalls, et al. · Neurology · 147
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Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia
2012 · Joshua Hersheson, Niccolo E. Mencacci, et al. · Annals of Neurology · 179
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A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease
2012 · Peter Holmans, Valentina Moskvina, et al. · Human Molecular Genetics · 139
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Young‐onset parkinsonism due to homozygous duplication of α‐synuclein in a consanguineous family
2012 · Maja Kojovic, Una‐Marie Sheerin, et al. · Movement Disorders · 27
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Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
2012 · Gavin Charlesworth, Vincent Plagnol, et al. · The American Journal of Human Genetics · 266
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PRRT2 gene mutations
2012 · Alice R. Gardiner, Kailash P. Bhatia, et al. · Neurology · 179
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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
2012 · Vincent Plagnol, James Curtis, et al. · Bioinformatics · 743
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