Items where Author is "Horga, A"
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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
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 , Muntoni, F, Hanna, MG, Reilly, MM, Revesz, T, Kullmann, DM, Jepson, JEC and Houlden, H (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 , Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG and Pitceathly, RD (2017) Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease. Neurology Genetics, 3 (3). ISSN 2376-7839