Browsing Centre for Clinical Pharmacology by Author "Wood, NW"
Now showing items 1-10 of 10
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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) -
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 ... -
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) -
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) -
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) -
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, ... -
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban, V; Tucci, A; Lynch, DS; Polke, JM; Santos, L; Jonvik, H; Groppa, S; Wood, NW; Houlden, H (2017-08)BACKGROUND: The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either ... -
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Ronco, R; Perini, C; Curro, R; Dominik, N; Facchini, S; Gennari, A; Simone, R; Stuart, S; Nagy, S; Vegezzi, E (2023)