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Mary Kay Koenig

Showing results (21-30 of 82) with videos related to

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Journal of Medical Economics|November 21, 2025
Real-world disease burden and health care resource utilization for patients with Barth syndromeLindsay Marjoram, Yonglin Huang, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism Reports|July 21, 2022
A new pathogenic POLG variantS Nicholas Russo, Ekta G Shah, William C Copeland, et al.
Child Neurology Open|March 15, 2021
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in ChildrenSam Nicholas Russo, Amy Goldstein, Amel Karaa, et al.
Molecular Genetics and Metabolism Reports|March 6, 2023
Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890]S Nicholas Russo, Ekta G Shah, William C Copeland, et al.
Pediatric Radiology|January 8, 2016
The neuroimaging of Leigh syndrome: case series and review of the literatureEliana Bonfante, Mary Kay Koenig, Rahmat B Adejumo, et al.
Pediatric Neurology|January 29, 2019
Expanding the Phenotypic Spectrum of CACNA1H MutationsNitish Chourasia, Henry Ossó-Rivera, Ankita Ghosh, et al.
Mitochondrion|September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism|June 14, 2025
Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiencyElsbeth Chow, Lindsey Miller, Anna Clearman, et al.
JAMA Neurology|March 9, 2016
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike EpisodesMary Kay Koenig, Lisa Emrick, Amel Karaa, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Pageof 9

Showing results (21-30 of 82) with videos related to

Sort By:
Pageof 9
Journal of Medical Economics|November 21, 2025
Real-world disease burden and health care resource utilization for patients with Barth syndromeLindsay Marjoram, Yonglin Huang, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism Reports|July 21, 2022
A new pathogenic POLG variantS Nicholas Russo, Ekta G Shah, William C Copeland, et al.
Child Neurology Open|March 15, 2021
Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in ChildrenSam Nicholas Russo, Amy Goldstein, Amel Karaa, et al.
Molecular Genetics and Metabolism Reports|March 6, 2023
Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890]S Nicholas Russo, Ekta G Shah, William C Copeland, et al.
Pediatric Radiology|January 8, 2016
The neuroimaging of Leigh syndrome: case series and review of the literatureEliana Bonfante, Mary Kay Koenig, Rahmat B Adejumo, et al.
Pediatric Neurology|January 29, 2019
Expanding the Phenotypic Spectrum of CACNA1H MutationsNitish Chourasia, Henry Ossó-Rivera, Ankita Ghosh, et al.
Mitochondrion|September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Molecular Genetics and Metabolism|June 14, 2025
Doxecitine and doxribtimine treatment in an adult patient with thymidine kinase 2 deficiencyElsbeth Chow, Lindsey Miller, Anna Clearman, et al.
JAMA Neurology|March 9, 2016
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike EpisodesMary Kay Koenig, Lisa Emrick, Amel Karaa, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Pageof 9