Results 61 to 70 of about 371,748 (188)

A case report of an adult MELAS with symptom of digestive system

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI:10.3969/j.issn.1672⁃6731.2012.01 ...
Yang WANG   +3 more
doaj  

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

open access: yes
The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai   +3 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

open access: yesBMEMat, Volume 4, Issue 2, June 2026.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang   +12 more
wiley   +1 more source

Deceleration of fusion–fission cycles improves mitochondrial quality control during aging [PDF]

open access: yes, 2012
Mitochondrial dynamics and mitophagy play a key role in ensuring mitochondrial quality control. Impairment thereof was proposed to be causative to neurodegenerative diseases, diabetes, and cancer.
Michael Meyer-Hermann   +18 more
core   +2 more sources

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

open access: yesOrphanet Journal of Rare Diseases, 2016
Background The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches
Nadia A. Akawi   +7 more
doaj   +1 more source

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He   +15 more
wiley   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

open access: yesClinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern   +4 more
wiley   +1 more source

Walsh & Hoyt: Mitochondrial Myopathies (Mitochondrial Encephalomyopathies)

open access: yes, 2005
The mitochondrial encephalomyopathies are a genetically and biochemically diverse set of disorders that are defined by structural abnormalities of mitochondria on muscle ...
Paul H. Phillips, MD
core  

Recombinant Mitochondrial Transcription Factor A with N-terminal Mitochondrial Transduction Domain Increases Respiration and Mitochondrial Gene Expression in G11778A Leber's Hereditary Optic Neuropathy Cybrid Cells [PDF]

open access: yes, 2008
Diseases involving mitochondrial defects usually manifest themselves in high-energy, post-mitotic tissues such as brain, retina, skeletal and cardiac muscle and frequently cause deficiencies in mitochondrial bioenergetics.
James P. Bennett   +5 more
core  

Experimental Relocation of the Mitochondrial ATP9 Gene to the Nucleus Reveals Forces Underlying Mitochondrial Genome Evolution [PDF]

open access: yes, 2012
Only a few genes remain in the mitochondrial genome retained by every eukaryotic organism that carry out essential functions and are implicated in severe diseases.
Tetaud, Emmanuel   +17 more
core   +2 more sources

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