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Journal of Human Genetics|February 19, 2024
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB geneEmma Matthews, Ella F Whittle, Faraan Khan, et al.
Translational Animal Science|May 9, 2022
An overview of international genetic evaluations of show jumping in sport horsesJennifer L Doyle, Christopher J Carroll, Alison F Corbally, et al.
European Journal of Human Genetics : EJHG|December 22, 2016
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathyCatalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, et al.
Neurogenetics|January 20, 2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growthPirjo Isohanni, Christopher J Carroll, Christopher B Jackson, et al.
Human Molecular Genetics|June 25, 2017
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndromeSanna Matilainen, Christopher J Carroll, Uwe Richter, et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research|May 17, 2013
Regulation of myocardial interleukin-6 expression by p53 and STAT1Christopher J Carroll, Berna S Sayan, Sarah G Bailey, et al.
Neurology. Genetics|July 9, 2020
Genetic background of ataxia in children younger than 5 years in FinlandErika Ignatius, Pirjo Isohanni, Max Pohjanpelto, et al.
The Journal of Biological Chemistry|February 24, 2004
BAG-1 proteins protect cardiac myocytes from simulated ischemia/reperfusion-induced apoptosis via an alternate mechanism of cell survival independent of the proteasomePaul A Townsend, Ramsey I Cutress, Christopher J Carroll, et al.
Human Molecular Genetics|February 20, 2010
Ketogenic diet slows down mitochondrial myopathy progression in miceSofia Ahola-Erkkilä, Christopher J Carroll, Katja Peltola-Mjösund, et al.
The International Journal of Biochemistry & Cell Biology|October 12, 2010
Transgenic overexpression of HSP56 does not result in cardiac hypertrophy nor protect from ischaemia/reperfusion injuryChristopher J Carroll, Naushaad Suleman, Sean M Davidson, et al.
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