Safety of drug use in patients with a primary mitochondrial disease: an international Delphi‐based consensus MC De Vries, DA Brown, ME Allen, L Bindoff, GS Gorman, A Karaa, ... Journal of Inherited Metabolic Disease 43 (4), 800-818, 2020 | 56 | 2020 |
Moving towards clinical trials for mitochondrial diseases RDS Pitceathly, N Keshavan, J Rahman, S Rahman Journal of Inherited Metabolic Disease 44 (1), 22-41, 2021 | 50 | 2021 |
Natural history of mitochondrial disorders: a systematic review N Keshavan, S Rahman Essays in biochemistry 62 (3), 423-442, 2018 | 43 | 2018 |
A nutrient-sensitive restriction point is active during retinal progenitor cell differentiation NK Love, N Keshavan, R Lewis, WA Harris, M Agathocleous Development 141 (3), 697-706, 2014 | 36 | 2014 |
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency N Keshavan, J Abdenur, G Anderson, Z Assouline, G Barcia, L Bouhikbar, ... Genetics in Medicine 22 (1), 199-209, 2020 | 26 | 2020 |
Cardiac valve involvement in ADAR-related type I interferonopathy Y Crow, N Keshavan, JP Barbet, G Bercu, V Bondet, C Boussard, ... Journal of Medical Genetics 57 (7), 475-478, 2020 | 21 | 2020 |
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease O Hikmat, P Isohanni, N Keshavan, MP Ferla, E Fassone, MA Abbott, ... Annals of Clinical and Translational Neurology 8 (11), 2155-2165, 2021 | 10 | 2021 |
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency N Keshavan, M Wood, LM Alderson, M Cortina‐Borja, R Skeath, ... JIMD reports 63 (2), 123-130, 2022 | 3 | 2022 |
Gene therapy for mitochondrial disorders N Keshavan, M Minczuk, C Viscomi, S Rahman Journal of Inherited Metabolic Disease 47 (1), 145-175, 2024 | 2 | 2024 |
Comment on" A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome" LA Bindoff, DA Brown, GS Gorman, A Karaa, N Keshavan, C Lamperti, ... Journal of inherited metabolic disease 44 (1), 6-7, 2021 | 1 | 2021 |
Mission possible: Gene therapy for inherited metabolic diseases J Baruteau, N Keshavan, CP Venditti Journal of Inherited Metabolic Disease 47 (1), 5-6, 2024 | | 2024 |
Gene therapy for deoxyguanosine kinase deficiency N Keshavan UCL (University College London), 2023 | | 2023 |