Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 243-254, 2013 | 1615 | 2013 |
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 255-265, 2013 | 899 | 2013 |
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ... Genetics in Medicine 17 (9), 689-701, 2015 | 567 | 2015 |
Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatric Neurology 123, 50-66, 2021 | 351 | 2021 |
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 | 287 | 2017 |
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management DE Meyers, HI Basha, MK Koenig Texas Heart Institute Journal 40 (4), 385, 2013 | 271 | 2013 |
Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 232 | 2019 |
Tuberous sclerosis complex H Northrup, MK Koenig, DA Pearson, KS Au | 217 | 2021 |
Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012 J Roth, ES Roach, U Bartels, S Jóźwiak, MK Koenig, HL Weiner, ... Pediatric Neurology 49 (6), 439-444, 2013 | 216 | 2013 |
Presentation and diagnosis of mitochondrial disorders in children MK Koenig Pediatric neurology 38 (5), 305-313, 2008 | 212 | 2008 |
Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and … MK Koenig, AA Hebert, J Roberson, J Samuels, J Slopis, A Woerner, ... Drugs in R&d 12, 121-126, 2012 | 156 | 2012 |
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders RP Saneto, IC Lee, MK Koenig, X Bao, SW Weng, RK Naviaux, LJC Wong Seizure 19 (3), 140-146, 2010 | 155 | 2010 |
Cytochrome c oxidase activity is a metabolic checkpoint that regulates cell fate decisions during T cell activation and differentiation TN Tarasenko, SE Pacheco, MK Koenig, J Gomez-Rodriguez, ... Cell metabolism 25 (6), 1254-1268. e7, 2017 | 141 | 2017 |
Rapamycin reduces seizure frequency in tuberous sclerosis complex J Muncy, IJ Butler, MK Koenig Journal of child neurology 24 (4), 477-477, 2009 | 128 | 2009 |
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 127 | 2016 |
Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes MK Koenig, L Emrick, A Karaa, M Korson, F Scaglia, S Parikh, A Goldstein JAMA neurology 73 (5), 591-594, 2016 | 125 | 2016 |
IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 97 | 2018 |
Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial MK Koenig, CS Bell, AA Hebert, J Roberson, JA Samuels, JM Slopis, ... JAMA dermatology 154 (7), 773-780, 2018 | 94 | 2018 |
The neuroimaging of Leigh syndrome: case series and review of the literature E Bonfante, MK Koenig, RB Adejumo, V Perinjelil, RF Riascos Pediatric radiology 46, 443-451, 2016 | 91 | 2016 |
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex MK Koenig, IJ Butler, H Northrup Journal of child neurology 23 (10), 1238-1239, 2008 | 86 | 2008 |