Publications by authors named "Maria Chiotis"

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Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.
Rosetta Marotta, Judy Chin, Maria Chiotis, Neil Shuey, Steven J Collins

Mitochondrion· September 2020

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Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.
Matthew McKenzie, Maria Chiotis, Jana Hroudová, Maria I G Lopez Sanchez, Sze Chern Lim

Hum Mutat· December 2014

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Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis.
Rosetta Marotta, Judy Chin, Denise M Kirby, Maria Chiotis, Mark Cook

J Clin Neurosci· February 2011

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Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.
Rosetta Marotta, Katrina Reardon, Penny A McKelvie, Maria Chiotis, Judy Chin

J Clin Neurosci· September 2009

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Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Harriet P Lo, Sandra T Cooper, Frances J Evesson, Jane T Seto, Maria Chiotis

Neuromuscul Disord· January 2008

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Chemical cleavage of mismatch (CCM) to locate base mismatches in heteroduplex DNA.
Tania Tabone, Georgina Sallmann, Maria Chiotis, Matthew Law, Richard Cotton

Nat Protoc· October 2007

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Functional respiratory chain analyses in murid xenomitochondrial cybrids expose coevolutionary constraints of cytochrome b and nuclear subunits of complex III.
Matthew McKenzie, Maria Chiotis, Carl A Pinkert, Ian A Trounce

Mol Biol Evol· July 2003

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