Charles J. Isaacs
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Parkinson's Disease Mechanisms and Treatments, Muscle Physiology and Disorders, Endoplasmic Reticulum Stress and Disease
Most-Cited Works
- → Progression of Friedreich ataxia: quantitative characterization over 5 years(2016)135 cited
- → Double-blind, Randomized and Controlled Trial of EPI-743 in Friedreich’s Ataxia(2018)84 cited
- → Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients(2018)51 cited
- → Selected missense mutations impair frataxin processing in Friedreich ataxia(2017)34 cited
- → Effects of genetic severity on glucose homeostasis in Friedreich ataxia(2016)17 cited
- → Friedreich Ataxia and nephrotic syndrome: a series of two patients(2016)14 cited
- → Open‐label pilot study of oral methylprednisolone for the treatment of patients with friedreich ataxia(2019)13 cited
- → Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia(2018)5 cited
- EPI-743 (Alpha-Tocotrienol Quinone) Demonstrates Long-Term Improvement in Neurological Function and Disease Progression in Friedreich’s Ataxia(2017)
- → Prospects of gene and cell therapy for managing cardiac complications in Friedreich ataxia(2015)2 cited