Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

Por Fryer, A, Appleton, R, Sweeney, M G, Rosenbloom, L, Harding, A E
Publicado em 1994

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

Por Harding, A E, Sweeney, M G, Govan, G G, Riordan-Eva, P
Publicado em 1995

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

Por Harding, A E, Holt, I J, Sweeney, M G, Brockington, M, Davis, M B
Publicado em 1992

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.

Por Sweeney, M G, Davis, M B, Lashwood, A, Brockington, M, Toscano, A, Harding, A E
Publicado em 1992

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Por Chalmers, R. M., Davis, M. B., Sweeney, M. G., Wood, N. W., Harding, A. E.
Publicado em 1996

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.

Por Borruat, F X, Green, W T, Graham, E M, Sweeney, M G, Morgan-Hughes, J A, Sanders, M D
Publicado em 1992

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

Por Rath, P P, Jenkins, S, Michaelides, M, Smith, A, Sweeney, M G, Davis, M B, Fitzke, F W, Bird, A C
Publicado em 2008

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

Por Hanna, M G, Nelson, I, Sweeney, M G, Cooper, J M, Watkins, P J, Morgan-Hughes, J A, Harding, A E
Publicado em 1995

Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy

Por Sorajja, P, Sweeney, M G, Chalmers, R, Sachdev, B, Syrris, P, Hanna, M, Wood, N D, McKenna, W J, Elliott, P M
Publicado em 2003

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Por Matthews, E, Labrum, R, Sweeney, M G., Sud, R, Haworth, A, Chinnery, P F., Meola, G, Schorge, S, Kullmann, D M., Davis, M B., Hanna, M G.
Publicado em 2009

Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

Por Craig, K, Elliott, H R, Keers, S M, Lambert, C, Pyle, A, Graves, T D, Woodward, C, Sweeney, M G, Davis, M B, Hanna, M G, Chinnery, P F
Publicado em 2007

Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies.

Por Morrissey, S P, Borruat, F X, Miller, D H, Moseley, I F, Sweeney, M G, Govan, G G, Kelly, M A, Francis, D A, Harding, A E, McDonald, W I
Publicado em 1995

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Por Polke, J.M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V.S., Houlden, H., Chamley, S.C., Blake, J., DeVile, C., Sandford, R., Sweeney, M.G., Davis, M.B., Reilly, M.M.
Publicado em 2011

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

Por Jacobi, H., Bauer, P., Giunti, P., Labrum, R., Sweeney, M.G., Charles, P., Dürr, A., Marelli, C., Globas, C., Linnemann, C., Schöls, L., Rakowicz, M., Rola, R., Zdzienicka, E., Schmitz-Hübsch, T., Fancellu, R., Mariotti, C., Tomasello, C., Baliko, L., Melegh, B., Filla, A., Rinaldi, C., van de Warrenburg, B.P., Verstappen, C.C.P., Szymanski, S., Berciano, J., Infante, J., Timmann, D., Boesch, S., Hering, S., Depondt, C., Pandolfo, M., Kang, J.-S., Ratzka, S., Schulz, J., Tezenas du Montcel, S., Klockgether, T.
Publicado em 2011