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Maria Chiotis

Explore the profile of Maria Chiotis including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 119
Followers 0
Related Specialties
Neurology
Biology
Cell Biology
Top 10 Co-Authors
Judy Chin
Rosetta Marotta
Steven J Collins
Ian A Trounce
Katrina Reardon
Matthew McKenzie
Mark Cook
Richard G H Cotton
Richard Cotton
Penny McKelvie
Published In
J Clin Neurosci
Mol Biol Evol
Nat Protoc
Hum Mutat
Neuromuscul Disord
Affiliations
Soon will be listed here.
Recent Articles
1.
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features
Marotta R, Chin J, Chiotis M, Shuey N, Collins S
Mitochondrion . 2020 Aug; 54:128-132. PMID: 32861874
Leber hereditary optic neuropathy (LHON) is a neurodegenerative disorder characterised by bilateral, painless, subacute, central vision loss caused by pathogenic sequence variants in mitochondrial DNA (mtDNA). Over the course of...
2.
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain
McKenzie M, Chiotis M, Hroudova J, Sanchez M, Lim S, Cook M, et al.
Hum Mutat . 2014 Sep; 35(12):1476-84. PMID: 25219341
Mitochondrial DNA (mtDNA) is replicated throughout life in postmitotic cells, resulting in higher levels of somatic mutation than in nuclear genes. However, controversy remains as to the importance of low-level...
3.
Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis
Marotta R, Chin J, Kirby D, Chiotis M, Cook M, Collins S
J Clin Neurosci . 2010 Dec; 18(2):290-2. PMID: 21163656
A high number of cytochrome c oxidase (COX)-negative muscle fibres (approximately 45%) without ragged red fibres was found in a 27-year-old male patient with a single unprovoked episode of severe...
4.
Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection
Marotta R, Reardon K, McKelvie P, Chiotis M, Chin J, Cook M, et al.
J Clin Neurosci . 2009 Jun; 16(9):1223-5. PMID: 19502062
A patient with a known family history of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) due to the MT-TL1 m.3243A>G mutation presented with mild myalgia and very minor upper...
5.
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis
Lo H, Cooper S, Evesson F, Seto J, Chiotis M, Tay V, et al.
Neuromuscul Disord . 2007 Sep; 18(1):34-44. PMID: 17897828
We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence analysis. Calpainopathies (8%) and dysferlinopathies (5%)...
6.
Chemical cleavage of mismatch (CCM) to locate base mismatches in heteroduplex DNA
Tabone T, Sallmann G, Chiotis M, Law M, Cotton R
Nat Protoc . 2007 Apr; 1(5):2297-304. PMID: 17406471
This protocol describes the use of the chemical cleavage of mismatch (CCM) method to assess whether a region of DNA contains mutations and to localize them. Compared with other mutation-detection...
7.
Functional respiratory chain analyses in murid xenomitochondrial cybrids expose coevolutionary constraints of cytochrome b and nuclear subunits of complex III
McKenzie M, Chiotis M, Pinkert C, Trounce I
Mol Biol Evol . 2003 Jun; 20(7):1117-24. PMID: 12777531
The large number of extant Muridae species provides the opportunity of investigating functional limits of nuclear/mitochondrial respiratory chain (RC) subunit interactions by introducing mitochondrial genomes from progressively more divergent species...