publication venue for
- A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant. 53:150-153. 2020
- High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants. 53:194-202. 2020
- Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 49:227-231. 2019
- Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C). 47:139-140. 2019
- CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation. 46:69-72. 2019
- Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation. 45:18-21. 2019
- Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 44:15-19. 2019
- Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction. 31:40-44. 2016
- Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. 14:26-33. 2014
- Exercise testing as a diagnostic entity in mitochondrial myopathies. 4:529-542. 2004
- Solid organ transplantation in primary mitochondrial disease: Proceed with caution 2016
- Polymerase gamma mutator mice rely on increased glycolytic flux for energy production 2015
- Resveratrol improves mitochondrial functions in respiratory chain-deficient cells 2013
- The effects of BDNF supplementation on polymerase gamma (POLG) 1 mutator mice 2013
- Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases 2013
- Comprehensive analysis of entire mitochondrial genome by long-range PCR and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 216 cases 2012
- 121 Mitochondrial aging countermeasure—Endurance exercise confers complete phenotypic protection in PolG mutator mouse 2010
- Pathology of skeletal muscle in mitochondrial disorders 2004