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Judy Chin

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Articles 7
Citations 64
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Recent Articles
1.
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.
McKelvie P, Infeld B, Marotta R, Chin J, Thorburn D, Collins S
J Clin Neurosci . 2012 Jan; 19(2):195-202. PMID: 22273117
We report an illustrative case of a 74-year-old man who, in the absence of intercurrent illness, presented with rapid cognitive decline. MRI showed bilateral, symmetrical, high T2-weighted signal in the...
3.
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.
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.
Todaro M, Quigley A, Kita M, Chin J, Lowes K, Kornberg A, et al.
Hum Mutat . 2007 Mar; 28(8):816-23. PMID: 17394239
Targeted corrective gene conversion (TCGC) holds much promise as a future therapy for many hereditary diseases in humans. Mutation correction frequencies varying between 0.0001% and 40% have been reported using...
6.
Braciak T, Pedersen B, Chin J, Hsiao C, Ward E, Maricic I, et al.
J Immunol . 2003 Jan; 170(2):765-74. PMID: 12517939
Adenovirus vectors are increasingly being used for genetic vaccination and may prove highly suitable for intervention in different pathological conditions due to their capacity to generate high level, transient gene...
7.
Tong J, Mackay I, Chin J, Law R, Fayad K, Rowley M
J Biotechnol . 2002 Jun; 97(2):183-90. PMID: 12067524
Background And Aims: Glutamic acid decarboxylase (GAD, EC 4.1.1.15) catalyses the conversion of glutamate to gamma-aminobutyric acid (GABA). The 65 kDa isoform, GAD65 is a potent autoantigen in type 1...