Browsing by Author "Wood, NW"
Now showing items 1-20 of 23
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J (2021) -
Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
Lubbe, SJ; Escott-Price, V; Gibbs, JR; Nalls, MA; Bras, J; Price, TR; Nicolas, A; Jansen, IE; Mok, KY; Pittman, AMOligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in Parkinson’s (PD) by assessing the potential burden of additional rare variants in established ... -
Analysis of shared heritability in common disorders of the brain
Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; Falcone, GJ; Gormley, P; Malik, R (2018-06-22) -
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
Romagnoni, A; Jegou, S; Van Steen, K; Wainrib, G; Hugot, J-P; Peyrin-Biroulet, L; Chamaillard, M; Colombel, J-F; Cottone, M; D'Amato, M (2019-07-17) -
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data
Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; Doherty, KM; Noyce, AJ; Mencacci, NE (2016-05) -
Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study
Noyce, AJ; Kia, DA; Hemani, G; Nicolas, A; Price, TR; De Pablo-Fernandez, E; Haycock, PC; Lewis, PA; Foltynie, T; Davey Smith, G (Public Library of Science, 2017-06-13) -
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara, E; Tucci, A; Manzoni, C; Lynch, DS; Elpidorou, M; Bettencourt, C; Chelban, V; Manole, A; Hamed, SA; Haridy, NA (2016-07)The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated ... -
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
van Rheenen, W; Shatunov, A; Dekker, AM; McLaughlin, RL; Diekstra, FP; Pulit, SL; van der Spek, RAA; Vosa, U; de Jong, S; Robinson, MR (2016-09) -
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, J; Tucci, A; Cipriani, V; Demidov, G; Rocca, C; Senderek, J; Butryn, M; Velic, A; Lam, T; Galanaki, E (2022) -
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
Nalls, MA; Blauwendraat, C; Vallerga, CL; Heilbron, K; Bandres-Ciga, S; Chang, D; Tan, M; Kia, DA; Noyce, AJ; Xue, A (2019-12) -
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Blauwendraat, C; Kia, DA; Pihlstrøm, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM (Elsevier, 2017-12-20)SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ... -
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study
Prins, BP; Abbasi, A; Wong, A; Vaez, A; Nolte, I; Franceschini, N; Stuart, PE; Achury, JG; Mistry, V; Bradfield, JP (2016-06) -
Investigation of Autosomal Genetic Sex Differences in Parkinson's disease.
Blauwendraat, C; Iwaki, H; Makarious, MB; Bandres-Ciga, S; Leonard, H; Grenn, FP; Lake, J; Krohn, L; Tan, M; Kim, JJ (2021-04-26)OBJECTIVE: Parkinson's disease (PD) is a complex neurodegenerative disorder. Males are on average ~ 1.5 times more likely to develop PD compared to females with European ancestry. Over the years genome-wide association ... -
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability
Reynolds, RH; Botia, J; Nalls, MA; Hardy, J; Taliun, SAG; Ryten, M; Noyce, AJ; Nicolas, A; Cookson, MR; Bandres-Ciga, S (Springer Nature, 2019-04-17)Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence ... -
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Blauwendraat, C; Faghri, F; Pihlstrom, L; Geiger, JT; Elbaz, A; Lesage, S; Corvol, J-C; May, P; Nicolas, A; Abramzon, Y (2017-09)Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a ... -
Neuronal intranuclear inclusion disease is genetically heterogeneous
Chen, Z; Yau, WY; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Taliun, SAG; Turner, C; Efthymiou, S; Ibanez, K; Sullivan, R (2020-09) -
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
Lynch, DS; Loh, SHY; Harley, J; Noyce, AJ; Martins, LM; Wood, NW; Houlden, H; Plun-Favreau, H (2017-10) -
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; Hersheson, J; Stamelou, M; Pittman, AM (2014-09)GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ... -
The Parkinson's Disease Mendelian Randomization Research Portal
Noyce, AJ; Bandres-Ciga, S; Kim, J; Heilbron, K; Kia, D; Hemani, G; Xue, A; Lawlor, DA; Smith, GD; Duran, R (2019-10-28) -
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; Pope, S; Conte, MR; Abis, G (2019-08)OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...