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AUCD Experts

Mary Kay Koenig, MD

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Contact Information:
6410 Fannin Street UTPB 500, Houston, TX, 77030
713-500-7164
Leadership:
Discipline Coordinators:
Medicine
Discipline(s):
Medicine-Neurodevelopmental Disabilities
AUCD Council Membership:
No Council Membership
Vita/Bio:
Service:
Linked Projects

Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex, A Multi-center Randomized Control Trial
EXIST-3
UXOO7 for GLUT-1 Deficiency
Afinitor to treat disfiguring cutaneous lesions in Neurofibromatosis-1
Proteinuria as a biomarker for renal dysfunction in patients with mitochondrial disease
Linked Products

Mitochondrial Disease Awareness, Univision
FOX26 News, Mitochondrial Disease Awareness
Utility of Migraine Cocktail in the Pediatric Emergency Department
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases.
Fatigue in primary genetic mitochondrial disease: No rest for the weary
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial)
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder.
Genetic subgroup learnings from the MMPOWER-3 trial: elamipretide improved six-minute walk in patients with mtDNA replisome mutations.
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism.
De Novo case of autosomal dominant mitochondrial membrane protein- associated neurodegeneration
Genetic Counseling Student Lecture, Mitochondrial Disease
Falls under "Academic Course Development"
Neurology Resident Lecture, Neurometabolic Disease
ATTeST Multicentric Trial to Delay Neurological Decline in Ataxia telangiectasia patients
PREVeNT Study Group. Primary Outcome Results of the Preventing Epilepsy Using Vigabatrin in Tuberous Sclerosis Complex Infants (PREVeNT Trial).
PREVeNT Study Group. Primary Outcome Results of the Preventing Epilepsy Using Vigabatrin in Tuberous Sclerosis Complex Infants (PREVeNT Trial).
Wolff-Parkinson-White Syndrome has higher prevalence with MELAS and mutations associated with MELAS
Caregiver-Reported Outcomes with Real-World Use of Cannabidiol (CBD) in Tuberous Sclerosis Complex (TSC): Interim Results from the BECOME-TSC Survey
Caregiver-Reported Nonseizure Outcomes With Real-World Use of Cannabidiol (CBD) in Tuberous Sclerosis Complex (TSC): Interim Results From the BECOME-TSC Survey
Understanding the trends and challenges in diagnosing mitochondrial diseases: insights from social media and other internet platforms
Causes of unplanned hospital admissions in patients with mitochondrial diseases: analysis of principal diagnosis, comorbid conditions and costs using a national inpatient sample (2016-2020)
NFX-179 Topical Gel for the treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Multicenter Phase 2b Study
NFX-179 Topical Gel for the treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Multicenter Phase 2b Study
MMPOWER-3 Trial Investigators. Efficacy and safety of elamipretide in individuals with primary mitochondrial myopathy: the MMPOWER-3 randomized clinical trial
PREVeNT Study Group. Early treatment with vigabatrin does not decrease focal seizures or improve cognition in tuberous sclerosis complex: the PREVeNT trial.