Seuraa
Mary Kay Koenig
Mary Kay Koenig
Professor of Child & Adolescent Neurology, University of Texas McGovern Medical School
Vahvistettu sähköpostiosoite verkkotunnuksessa uth.tmc.edu - Kotisivu
Nimike
Viittaukset
Viittaukset
Vuosi
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
16812013
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
9482013
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
6182015
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
4972021
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), 1380-1380, 2017
3062017
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management
DE Meyers, HI Basha, MK Koenig
Texas Heart Institute Journal 40 (4), 385, 2013
2872013
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
2702019
Tuberous sclerosis complex
H Northrup, MK Koenig, DA Pearson, KS Au
2422021
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
2332013
Presentation and diagnosis of mitochondrial disorders in children
MK Koenig
Pediatric neurology 38 (5), 305-313, 2008
2242008
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
1622010
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
1612017
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
1582012
Rapamycin reduces seizure frequency in tuberous sclerosis complex
J Muncy, IJ Butler, MK Koenig
Journal of child neurology 24 (4), 477-477, 2009
1332009
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
1292016
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
1282016
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
1082018
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
1052018
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
992016
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
882008
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Artikkelit 1–20