Atypical muscle mitochondria in oculoskeletal myopathy

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

Neuromuscular disorders : NMD·2005

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

Neurology·2000

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Annals of neurology·1999

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.

Biochimica et biophysica acta·1999

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

Brain : a journal of neurology·1999

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Journal of neurology, neurosurgery, and psychiatry·1998

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Brain : a journal of neurology·2026

Diabetes and neurodegeneration in cognitively unimpaired older adults: implications for cognition.

Brain : a journal of neurology·2026

Lytic Epstein-Barr virus infection and emerging autoantibodies precede multiple sclerosis prodrome.

Brain : a journal of neurology·2026

Divergent tau pathology profiles induced by distinct alpha-synuclein aggregates in non-human primates.

Brain : a journal of neurology·2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Brain : a journal of neurology·2026

Mechanochemical endothelial-astrocyte signalling via Piezo1-Epac1 drives neurovascular injury after stroke.

Brain : a journal of neurology·2026

Spatial correlation network characteristics and influencing factors of urban ecological vulnerability in the Yellow River Basin, China.

Ying yong sheng tai xue bao = The journal of applied ecology·2026

A Rare Case of Pleural Deciduoid Mesothelioma With Histological, Immunohistochemical, Fluorescent In Situ Hybridization, and Ultrastructural Findings.

Cureus·2026

Mycobacterium marinum Infection: A Clinical Case Report and 5-Year Systematic Literature Review (2021-2025).

Clinical, cosmetic and investigational dermatology·2026

Notch-1 induces M2 polarization of tumor-associated macrophages via the YAP/EZH2/FOXD1/CD47 signaling axis, thereby driving non-small cell lung cancer progression.

Frontiers in medicine·2026

NR4A1 Regulates Glycolysis in M1 Macrophages via the Wnt/β-Catenin Pathway to Affect Sepsis-Induced Myocardial Injury.

Journal of inflammation research·2026

Differential roles of resident lung macrophages during control of murine alveolar and airway Mycobacterium abscessus infection.

Frontiers in tuberculosis·2026

Related Experiment Videos

Atypical muscle mitochondria in oculoskeletal myopathy

Related Concept Videos

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Diabetes and neurodegeneration in cognitively unimpaired older adults: implications for cognition.

Lytic Epstein-Barr virus infection and emerging autoantibodies precede multiple sclerosis prodrome.

Divergent tau pathology profiles induced by distinct alpha-synuclein aggregates in non-human primates.

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Mechanochemical endothelial-astrocyte signalling via Piezo1-Epac1 drives neurovascular injury after stroke.

Spatial correlation network characteristics and influencing factors of urban ecological vulnerability in the Yellow River Basin, China.

A Rare Case of Pleural Deciduoid Mesothelioma With Histological, Immunohistochemical, Fluorescent In Situ Hybridization, and Ultrastructural Findings.

Mycobacterium marinum Infection: A Clinical Case Report and 5-Year Systematic Literature Review (2021-2025).

Notch-1 induces M2 polarization of tumor-associated macrophages via the YAP/EZH2/FOXD1/CD47 signaling axis, thereby driving non-small cell lung cancer progression.

NR4A1 Regulates Glycolysis in M1 Macrophages via the Wnt/β-Catenin Pathway to Affect Sepsis-Induced Myocardial Injury.

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Atypical muscle mitochondria in oculoskeletal myopathy

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