Items where authors include "Shaw, PJ"

Article

Škorić-Milosavljević, D, Tadros, R, Bosada, FM et al. (77 more authors) (2022) Common genetic variants contribute to risk of transposition of the great arteries. Circulation Research, 130 (2). pp. 166-180. ISSN 0009-7330

van Rheenen, W, van der Spek, RAA, Bakker, MK et al. (279 more authors) (2021) Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics, 53 (12). pp. 1636-1648. ISSN 1061-4036

Johnson, JO, Chia, R, Miller, DE et al. (295 more authors) (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurology, 78 (10). pp. 1236-1248. ISSN 2168-6149

Castelli, LM, Cutillo, L orcid.org/0000-0002-2205-0338, Dos Santos Souza, C et al. (14 more authors) (2021) SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis. Molecular Neurodegeneration, 16. 53. ISSN 1750-1326

Plesia, M, Stevens, OA, Lloyd, GR et al. (8 more authors) (2021) In Vivo Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy. ACS Chemical Neuroscience, 12 (10). pp. 1768-1776. ISSN 1948-7193

Nabais, MF, Laws, SM, Lin, T et al. (67 more authors) (2021) Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22. 90. ISSN 1474-760X

Cooper-Knock, J orcid.org/0000-0002-0873-8689, Zhang, S, Kenna, KP et al. (51 more authors) (2020) Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. Cell Reports, 33 (9). 108456. ISSN 2211-1247

Lahrouchi, N, Tadros, R, Crotti, L et al. (103 more authors) (2020) Transethnic genome-wide association study provides insights in the genetic architecture and heritability of Long QT syndrome. Circulation, 142 (4). pp. 324-338. ISSN 0009-7322

Janel, JO, Chia, R, Kumaran, R et al. (50 more authors) (2019) Mutations in the sphingolipid pathway gene SPTLC1 are a cause of amyotrophic lateral sclerosis. SSRN. (Submitted)

Bandres‐Ciga, S, Noyce, AJ, Hemani, G et al. (166 more authors) (2019) Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis. Annals of Neurology, 85 (4). pp. 470-481. ISSN 0364-5134

Nicolas, A, Kenna, KP, Renton, AE et al. (210 more authors) (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron, 97 (6). 1268-1283.e6.

van Rheenen, W, Shatunov, A, Dekker, AM et al. (180 more authors) (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. ISSN 1546-1718

Bayatti, N, Cooper-Knock, J, Bury, JJ et al. (4 more authors) (2014) Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis. PLOS ONE, 9 (1). e87508. ISSN 1932-6203

Baxter, SK, Baird, WO, Thompson, S et al. (7 more authors) (2013) The use of non-invasive ventilation at end of life in patients with motor neurone disease: A qualitative exploration of family carer and health professional experiences. Palliative Medicine, 27 (6). 516 - 523. ISSN 0269-2163

Monograph

Latimer, N, Dixon, S, McDermott, CJ et al. (4 more authors) (2011) Modelling the cost effectiveness of a potential new neck collar for patients with motor neurone disease. Discussion Paper. HEDS Discussion Paper (11/10). (Unpublished)