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Current Genetic Medicine Reports
|
November 6, 2018
Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies
Colleen C Muraresku, Elizabeth M McCormick, Marni J Falk
Current Genetic Medicine Reports
|
November 3, 2018
Mitochondrial Genomics: A complex field now coming of age
Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk
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 medicine
Laura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, et al.
Neurology
|
January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial
Karen L Madsen, Astrid E Buch, Bruce H Cohen, et al.
JCSM Clinical Reports
|
January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment Tool
Jean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
Frontiers in Pharmacology
|
April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
Jing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Molecular Genetics and Metabolism
|
December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
American Journal of Human Genetics
|
May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Marianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Brain : a Journal of Neurology
|
February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Genes
|
July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Current Genetic Medicine Reports
|
November 6, 2018
Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies
Colleen C Muraresku, Elizabeth M McCormick, Marni J Falk
Current Genetic Medicine Reports
|
November 3, 2018
Mitochondrial Genomics: A complex field now coming of age
Elizabeth M McCormick, Colleen C Muraresku, Marni J Falk
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 medicine
Laura E MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, et al.
Neurology
|
January 4, 2020
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial
Karen L Madsen, Astrid E Buch, Bruce H Cohen, et al.
JCSM Clinical Reports
|
January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment Tool
Jean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
Frontiers in Pharmacology
|
April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease
Jing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Molecular Genetics and Metabolism
|
December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Jing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
American Journal of Human Genetics
|
May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Marianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Brain : a Journal of Neurology
|
February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Alistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Genes
|
July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Page
of 2