Items where Author is "Reilly, MM"
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Gillmore, JD, Reilly, MM, Coats, CJ, Cooper, R, Cox, H, Coyne, MRE, Green, AJ, McGowan, R, Moody, WE and Hawkins, PN (2022) Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK. Advances in Therapy, 39 (6). pp. 2292-2301. ISSN 0741-238X
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
Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R , Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, IP, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F and Houlden, H (2013) Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137 (1). pp. 44-56. ISSN 1460-2156
Liu, Y-T, Hersheson, J, Plagnol, V, Fawcett, K, Duberley, KEC, Preza, E, Hargreaves, IP, Chalasani, A, Laura, M, Wood, NW, Reilly, MM and Houlden, H (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery and Psychiatry (JNNP), 85 (5). pp. 493-498. ISSN 0022-3050
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