Patrick F. Chinnery
- The Budget Can Be a Management Tool.
1999/10/01 by Richard M. Andrews, Iwona Kubacka, Patrick F. Chinnery +4 · 8 citations
Biochemistry, Genetics and Molecular Biology · Social Sciences · #Education Systems and Policy #Forensic and Genetic Research #Metabolomics and Mass Spectrometry Studies #Mitochondrial Function and Pathology
- Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
2014/11/26 by Robert Kopajtich, Thomas J. Nicholls, Thomas J. Nicholls +62 · 29 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research
- Pro-inflammatory macrophages produce mitochondria-derived superoxide by reverse electron transport at complex I that regulates IL-1β release during NLRP3 inflammasome activation
2025/02/19 by Alva M. Casey, Dylan G. Ryan, Hiran A. Prag +13 · 1 voice · 6 citations
Biochemistry, Genetics and Molecular Biology · #Inflammasome and immune disorders #ATP Synthase and ATPases Research #Mitochondrial Function and Pathology
- TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
2015/07/17 by Christopher A. Powell, Christopher A. Powell, Robert Kopajtich +31 · 27 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #RNA modifications and cancer #Congenital Heart Disease Studies #Mitochondrial Function and Pathology
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
2019/01/25 by Sumit Parikh, Amel Karaa, Amy Goldstein +27 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #Infectious Encephalopathies and Encephalitis
- Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
2016/04/30 by Metodi D. Metodiev, Metodi D. Metodiev, Kyle Thompson +22 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Mitochondrial Function and Pathology