Items where Author is "Manole, A"

Article

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

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

Manole, A, Jaunmuktane, Z, Hargreaves, IP, Ludtmann, MHR, Salpietro, V, Bello, OD, Pope, S, Pandraud, A, Horga, A, Scalco, RS, Li, A, Ashokkumar, B, Lourenco, CM, Heales, S, Horvath, R, Chinnery, PF, Toro, C, Singleton, AB, Jacques, TS, Abramov, AY et al (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain, 140 (11). pp. 2820-2837. ISSN 1460-2156

Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K et al (2017) Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease. Neurology Genetics, 3 (3). ISSN 2376-7839