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Author Details

Mary Kay Koenig
The University of Texas McGovern Medical School
1999
83
30
PMIDPaper TitleJournal TitlePublished Year
36873250Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890].Mol Genet Metab Rep2023
37638552Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.Ann Neurol2023
37273694Establishing a pediatric acute stroke protocol: experience of a new pediatric stroke program and predictors of acute stroke.Front Neurol2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
35146903NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.Am J Med Genet A2022
35441706A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.Epilepsia2022
35675510Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.Brain2022
35860755A new pathogenic POLG variant.Mol Genet Metab Rep2022
36636586Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.JIMD Rep2022
35940368Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex.J Am Acad Dermatol2022
33811133Adult phenotype of <i>KCNQ2</i> encephalopathy.J Med Genet2022
35148383DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.Brain2022
32518176<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum.J Med Genet2021
33718511Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A&gt;G Variant in Children.Child Neurol Open2021
33847457Heterozygous variants in SPTBN1 cause intellectual disability and autism.Am J Med Genet A2021
33737013Hypoglycemia in mitochondrial disorders.Mitochondrion2021
34041867A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.Mol Genet Genomic Med2021
32221810Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.Neurol Sci2020
31999386BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.Hum Mutat2020
31814314RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.Ann Clin Transl Neurol2020
31896620Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.Neurology2020
32693025De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.Am J Hum Genet2020
32383331Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.Mol Genet Genomic Med2020
29480352Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.JIMD Rep2019
31752325Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants.J Clin Med2019
31653361Fatigue in primary genetic mitochondrial disease: No rest for the weary.Neuromuscul Disord2019
30245510A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genet Med2019
31216405Reanalysis of Clinical Exome Sequencing Data.N Engl J Med2019
31353855Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.Ann Clin Transl Neurol2019
30954647Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases.J Allergy Clin Immunol Pract2019
30842973Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.Neurol Genet2019
30683676Diagnosis of 'possible' mitochondrial disease: an existential crisis.J Med Genet2019
30643220Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genet Med2019
30686625Expanding the Phenotypic Spectrum of CACNA1H Mutations.Pediatr Neurol2019
29652210Idiopathic Central Nervous System Inflammatory Disease in the Setting of HLA-B27 Uveitis.Ocul Immunol Inflamm2019
28803392Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies.J Genet Couns2018
30193138IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
29800048Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial.JAMA Dermatol2018
30005812Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.Eur J Paediatr Neurol2018
30057031IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet2018
30284154Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial.Drugs R D2018
29529134The expanding neurological phenotype of DNM1L-related disorders.Brain2018
29169869Reply to the Letter to the Editor by Josef Finsterer and Sinda Zarrouk-Mahjoub.Pediatr Neurol2018
28659154Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.Orphanet J Rare Dis2017
28411234Phenotype of GABA-transaminase deficiency.Neurology2017
29215644Response to Newman et al.Genet Med2017
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
28591633Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation.Cell Metab2017
28739363Involvement of Cerebellum in Leigh Syndrome: Case Report and Review of the Literature.Pediatr Neurol2017
26954033Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.JAMA Neurol2016
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University of California
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Co-authored papers 4
School of Clinical Medicine, University of Cambridge
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Co-authored papers 3
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