The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
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Published in Journal of neurology, neurosurgery and psychiatry (01.08.2013)
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Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia
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Published in Brain (London, England : 1878) (01.12.2014)
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Pitceathly, Robert D S, Murphy, Sinéad M, Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G, Woodward, Cathy, Mudanohwo, Ese E, Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L, Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A, Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P, Rahman, Shamima, Reilly, Mary M, Hanna, Michael G
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Published in Neurology (11.09.2012)
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Huntington's disease phenocopies are clinically and genetically heterogeneous
Wild, Edward J., Mudanohwo, Ese E., Sweeney, Mary G., Schneider, Susanne A., Beck, Jon, Bhatia, Kailash P., Rossor, Martin N., Davis, Mary B., Tabrizi, Sarah J.
Published in Movement disorders (15.04.2008)
Published in Movement disorders (15.04.2008)
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Kearns–Sayre syndrome caused by defective R1/p53R2 assembly
Pitceathly, Robert D S, Fassone, Elisa, Taanman, Jan-Willem, Sadowski, Michael, Fratter, Carl, Mudanohwo, Ese E, Woodward, Cathy E, Sweeney, Mary G, Holton, Janice L, Hanna, Michael G, Rahman, Shamima
Published in Journal of medical genetics (01.09.2011)
Published in Journal of medical genetics (01.09.2011)
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