MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
AW El-Hattab, AM Adesina, J Jones… - Molecular genetics and …, 2015 - Elsevier
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS …
syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS …
[PDF][PDF] The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update
The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2006–2007
Update Page 1 Copyright @ 200 by the American College of Sports Medicine. Unauthorized …
Update Page 1 Copyright @ 200 by the American College of Sports Medicine. Unauthorized …
Pathogenic mitochondrial DNA mutations are common in the general population
Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their
prevalence in the general population is not known. We determined the frequency of ten …
prevalence in the general population is not known. We determined the frequency of ten …
MELAS: a nationwide prospective cohort study of 96 patients in Japan
S Yatsuga, N Povalko, J Nishioka, K Katayama… - … et Biophysica Acta (BBA …, 2012 - Elsevier
BACKGROUND: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and
stroke-like episodes)(OMIM 540000) is the most dominant subtype of mitochondrial …
stroke-like episodes)(OMIM 540000) is the most dominant subtype of mitochondrial …
2024 guideline for the primary prevention of stroke: a guideline from the American Heart Association/American Stroke Association
AIM: The “2024 Guideline for the Primary Prevention of Stroke” replaces the 2014
“Guidelines for the Primary Prevention of Stroke.” This updated guideline is intended to be a …
“Guidelines for the Primary Prevention of Stroke.” This updated guideline is intended to be a …
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
DM Sproule, P Kaufmann - Annals of the New York Academy of …, 2008 - Wiley Online Library
Since the initial description almost 25 years ago, the syndrome of mitochondrial
encephalopathy, lactic acidosis, and strokelike episodes (MELAS) has been a useful model …
encephalopathy, lactic acidosis, and strokelike episodes (MELAS) has been a useful model …
The mitochondrial DNA genetic bottleneck: inheritance and beyond
mtDNA is a multicopy genome. When mutations exist, they can affect a varying proportion of
the mtDNA present within every cell (heteroplasmy). Heteroplasmic mtDNA mutations can …
the mtDNA present within every cell (heteroplasmy). Heteroplasmic mtDNA mutations can …
Inheritance of mitochondrial DNA in humans: implications for rare and common diseases
The first draft human mitochondrial DNA (mtDNA) sequence was published in 1981, paving
the way for two decades of discovery linking mtDNA variation with human disease. Severe …
the way for two decades of discovery linking mtDNA variation with human disease. Severe …
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease
JM Lehtonen, M Auranen, N Darin… - Journal of Inherited …, 2021 - Wiley Online Library
The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor
21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle …
21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle …
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells
O Shaham, NG Slate, O Goldberger… - Proceedings of the …, 2010 - National Acad Sciences
Mutations in either the mitochondrial or nuclear genomes can give rise to respiratory chain
disease (RCD), a large class of devastating metabolic disorders. Their clinical management …
disease (RCD), a large class of devastating metabolic disorders. Their clinical management …