Items where authors include "Diggle, CP"

Article

Chang, L, Liu, X orcid.org/0000-0002-2804-8116, Diggle, CP orcid.org/0000-0001-6861-359X et al. (4 more authors) (2020) Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia. Journal of Biological Chemistry, 295 (45). pp. 15226-15235. ISSN 0021-9258

Lopez, JR, Kaura, V orcid.org/0000-0002-8984-9662, Diggle, CP orcid.org/0000-0001-6861-359X et al. (2 more authors) (2018) Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1. British Journal of Anaesthesia, 121 (4). pp. 953-961. ISSN 0007-0912

Ye, S orcid.org/0000-0001-5152-5753, Wheeler, MC, McLaughlan, JR orcid.org/0000-0001-5795-4372 et al. (6 more authors) (2018) Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes. International Journal of Molecular Sciences, 19 (8). 2327. ISSN 1661-6596

Diggle, CP orcid.org/0000-0001-6861-359X, Martinez-Garay, I, Molnar, Z et al. (17 more authors) (2017) A Tubulin Alpha 8 Mouse Knockout Model Indicates a Likely Role in Spermatogenesis but Not in Brain Development. PLoS ONE, 12 (4). e0174264.

Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297

Giancane, G, Diggle, CP, Legger, EG et al. (7 more authors) (2015) Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. Journal of Rheumatology, 42 (11). 2211 - 2214. ISSN 0315-162X

Diggle, CP orcid.org/0000-0001-6861-359X, Moore, DJ, Mali, G et al. (21 more authors) (2014) HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genetics, 10 (9). e1004577. ISSN 1553-7390

Watson, CM, Crinnion, LA, Morgan, JE et al. (10 more authors) (2014) Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Human Mutation, 35 (4). 434 - 441. ISSN 1059-7794

Touqan, N, Diggle, CP, Verghese, ET et al. (7 more authors) (2013) An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas. BMC Clinical Pathology, 13 (1). 32. pp. 1-9. ISSN 1472-6890

Carr, IM orcid.org/0000-0001-9544-1068, Diggle, CP, Khan, K et al. (8 more authors) (2012) Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype. PLoS One, 7 (8). ARTN e43466. ISSN 1552-4973

Logan, CV, Lucke, B, Pottinger, C et al. (7 more authors) (2011) Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genetics, 43 (12). 1189 - 1192 . ISSN 1061-4036