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JIMD Reports
|
July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups
Surita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.
Annals of Neurology
|
May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Plos One
|
May 18, 2018
Mitochondrial disease patient motivations and barriers to participate in clinical trials
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, et al.
Molecular Genetics and Metabolism
|
October 1, 2022
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Johanna Elander, Elizabeth M McCormick, Maria Värendh, et al.
Neurology. Clinical Practice
|
May 1, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report
Pierre-Louis Lanvin, Dong Li, Solène Conrad, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
Annals of Neurology
|
December 28, 2020
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations"
Cesar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, et al.
Annals of Neurology
|
May 24, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Cesar A P F Alves, Sara R Teixeira, Juan S Martin-Saavedra, et al.
Plos One
|
September 4, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, et al.
JCSM Clinical Reports
|
January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment Tool
Jean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 45) with videos related to
Sort By:
Page
of 5
JIMD Reports
|
July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups
Surita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.
Annals of Neurology
|
May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Plos One
|
May 18, 2018
Mitochondrial disease patient motivations and barriers to participate in clinical trials
Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, et al.
Molecular Genetics and Metabolism
|
October 1, 2022
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Johanna Elander, Elizabeth M McCormick, Maria Värendh, et al.
Neurology. Clinical Practice
|
May 1, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report
Pierre-Louis Lanvin, Dong Li, Solène Conrad, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
Annals of Neurology
|
December 28, 2020
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations"
Cesar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin-Saavedra, et al.
Annals of Neurology
|
May 24, 2020
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Cesar A P F Alves, Sara R Teixeira, Juan S Martin-Saavedra, et al.
Plos One
|
September 4, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, et al.
JCSM Clinical Reports
|
January 24, 2022
Development of a Mitochondrial Myopathy-Composite Assessment Tool
Jean Flickinger, Jiaxin Fan, Amanda Wellik, et al.
Page
of 5