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Items where Author is "Reilly, MM"

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Number of items: 6.

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 , 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

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