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Items where Author is "Pitceathly, RDS"

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Number of items: 6.

Article

Poole, OV, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG and Pitceathly, RDS (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant. Neurology Genetics, 6 (2). ISSN 2376-7839

Bugiardin, E, Bottani, E, Marchet, S, Poole, OV, Beninca, C, Horga, A, Woodward, C, Lam, A, Hargreaves, IP, Chalasani, A, Valerio, A, Lamantea, E, Venner, K, Holton, JL, Zeviani, M, Houlden, H, Quinlivan, R, Lamperti, C, Hanna, MG and Pitceathly, RDS (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6 (1). ISSN 2376-7839

Horga, A, Woodward, CE, Mills, A, Pareés, I, Hargreaves, IP, Brown, RM, Bugiardini, E, Brooks, T, Manole, A, Remzova, E, Rahman, S, Reilly, MM, Houlden, H, Sweeney, MG, Brown, GK, Polke, JM, Gago, F, Parton, MJ, Pitceathly, RDS and Hanna, MG (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics, 138 (11-12). pp. 1313-1322. ISSN 0340-6717

Bugiardini, E, Mitchell, AL, Rosa, ID, Horning-Do, H-T, Pitmann, AM, Poole, OV, Holton, JL, Shah, S, Woodward, C, Hargreaves, IP, Quinlivan, R, Amunts, A, Wiesner, RJ, Houlden, H, Holt, IJ, Hanna, MG, Pitceathly, RDS and Spinazzola, A (2019) MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics. ISSN 0964-6906

Horga, A, Bugiardini, E, Manole, A, Bremner, F, Jaunmuktane, Z, Dankwa, L, Rebelo, AP, Woodward, CE, Hargreaves, IP, Cortese, A, Pittman, AM, Brandner, S, Polke, JM, Pitceathly, RDS, Züchner, S, Hanna, MG, Scherer, SS, Houlden, H and Reilly, MM (2019) Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy. Neurology Genetics, 5 (2). ISSN 2376-7839

Tucci, A, Liu, Y-T, Preza, E, Pitceathly, RDS, Chalasani, A, Plagnol, V, Land, JM, Trabzuni, D, Ryten, M, Jaunmuktane, Z, Reilly, MM, Brandner, S, Hargreaves, IP, Hardy, J, Singleton, AB, Abramov, AY and Houlden, H (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry (JNNP), 85 (5). pp. 486-492. ISSN 0022-3050

This list was generated on Fri Mar 29 13:16:27 2024 UTC.