| Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer IPM Tomlinson, NA Alam, AJ Rowan, E Barclay, EEM Jaeger, D Kelsell, ... Nature genetics 30 (4), 406, 2002 | 1738 | 2002 |
| Leigh syndrome: clinical features and biochemical and DNA abnormalities S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, ... Annals of Neurology: Official Journal of the American Neurological …, 1996 | 928 | 1996 |
| Leigh syndrome: one disorder, more than 75 monogenic causes NJ Lake, AG Compton, S Rahman, DR Thorburn Annals of neurology 79 (2), 190-203, 2016 | 522 | 2016 |
| Inborn metabolic diseases JM Saudubray, G Berghe, JH Walter Springer, 2012 | 426 | 2012 |
| Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion O Elpeleg, C Miller, E Hershkovitz, M Bitner-Glindzicz, ... The American Journal of Human Genetics 76 (6), 1081-1086, 2005 | 379 | 2005 |
| Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate … NA Alam, AJ Rowan, NC Wortham, PJ Pollard, M Mitchell, JP Tyrer, ... Human molecular genetics 12 (11), 1241-1252, 2003 | 374 | 2003 |
| Complex I deficiency: clinical features, biochemistry and molecular genetics E Fassone, S Rahman Journal of medical genetics 49 (9), 578-590, 2012 | 345 | 2012 |
| POLG-related disorders and their neurological manifestations S Rahman, WC Copeland Nature Reviews Neurology 15 (1), 40-52, 2019 | 303 | 2019 |
| Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1397, 2017 | 286 | 2017 |
| Decrease of 3243 A→ G mtDNA mutation from blood in MELAS syndrome: a longitudinal study S Rahman, J Poulton, D Marchington, A Suomalainen The American Journal of Human Genetics 68 (1), 238-240, 2001 | 279 | 2001 |
| The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m. 3243A> G mutation—implications for diagnosis and management V Nesbitt, RDS Pitceathly, DM Turnbull, RW Taylor, MG Sweeney, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (8), 936-938, 2013 | 269 | 2013 |
| A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease AJ Duncan, M Bitner-Glindzicz, B Meunier, H Costello, IP Hargreaves, ... The American Journal of Human Genetics 84 (5), 558-566, 2009 | 252 | 2009 |
| Mitochondrial medicine in the omics era J Rahman, S Rahman The Lancet 391 (10139), 2560-2574, 2018 | 249 | 2018 |
| Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein V Tiranti, P D’Adamo, E Briem, G Ferrari, R Mineri, E Lamantea, H Mandel, ... The American Journal of Human Genetics 74 (2), 239-252, 2004 | 238 | 2004 |
| Mitochondrial DNA-associated Leigh syndrome and NARP DR Thorburn, J Rahman, S Rahman | 211 | 2017 |
| Mitochondrial disease and epilepsy S Rahman Developmental Medicine & Child Neurology 54 (5), 397-406, 2012 | 209 | 2012 |
| The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells SD Hughes, M Kanabus, G Anderson, IP Hargreaves, T Rutherford, ... Journal of neurochemistry 129 (3), 426-433, 2014 | 201 | 2014 |
| Mitochondrial disease and endocrine dysfunction J Chow, J Rahman, JC Achermann, MT Dattani, S Rahman Nature Reviews Endocrinology 13 (2), 92-104, 2017 | 192 | 2017 |
| Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia KP Schlingmann, MC Sassen, S Weber, U Pechmann, K Kusch, L Pelken, ... Journal of the American Society of Nephrology 16 (10), 3061-3069, 2005 | 188 | 2005 |
| Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency CM Quinzii, LC López, RW Gilkerson, B Dorado, J Coku, AB Naini, ... The FASEB Journal 24 (10), 3733, 2010 | 187 | 2010 |
Hanna MichaelUCL Institute of Neurology在 ucl.ac.uk 的电子邮件经过验证
