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Elizabeth M McCormick

Showing results (11-20 of 45) with videos related to

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Biorxiv : the Preprint Server for Biology|June 3, 2026
Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic RescueMelis Kose, Elizabeth M McCormick, Kelsey Keith, et al.
Human Mutation|February 15, 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new casesRebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, et al.
Therapeutic Advances in Chronic Disease|July 30, 2025
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviewsElizabeth M McCormick, James T Peterson, Joaquim Diego D Santos, et al.
Obstetrics and Gynecology International|July 23, 2025
The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young WomenJeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology|April 29, 2026
High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture statesMd Mostafijur Rahman, Pabitra Khadka, Carolyn K J Young, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity scoreElizabeth M McCormick, Elizabeth Hopkins, Laura Conway, et al.
Mitochondrion|July 29, 2017
Mitochondrial function requires NGLY1Jianping Kong, Min Peng, Julian Ostrovsky, et al.
Molecular Genetics and Metabolism|February 22, 2024
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicineLaura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, et al.
Brain Sciences|August 26, 2023
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian PatientIsabella Peixoto de Barcelos, Dong Li, Deborah Watson, et al.
JAMIA Open|November 19, 2024
MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic dataIbrahim George-Sankoh, Laura E MacMullen, Asif T Chinwalla, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Biorxiv : the Preprint Server for Biology|June 3, 2026
Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic RescueMelis Kose, Elizabeth M McCormick, Kelsey Keith, et al.
Human Mutation|February 15, 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new casesRebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, et al.
Therapeutic Advances in Chronic Disease|July 30, 2025
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviewsElizabeth M McCormick, James T Peterson, Joaquim Diego D Santos, et al.
Obstetrics and Gynecology International|July 23, 2025
The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young WomenJeffrey R Boris, Edward C Shadiack, Elizabeth M McCormick, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology|April 29, 2026
High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture statesMd Mostafijur Rahman, Pabitra Khadka, Carolyn K J Young, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity scoreElizabeth M McCormick, Elizabeth Hopkins, Laura Conway, et al.
Mitochondrion|July 29, 2017
Mitochondrial function requires NGLY1Jianping Kong, Min Peng, Julian Ostrovsky, et al.
Molecular Genetics and Metabolism|February 22, 2024
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicineLaura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, et al.
Brain Sciences|August 26, 2023
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian PatientIsabella Peixoto de Barcelos, Dong Li, Deborah Watson, et al.
JAMIA Open|November 19, 2024
MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic dataIbrahim George-Sankoh, Laura E MacMullen, Asif T Chinwalla, et al.
Pageof 5