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The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines



Serum biomarkers in primary mitochondrial disorders


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10.1212/WNL.0000000000012033

[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease



The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines



A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity



Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS



Serum biomarkers in primary mitochondrial disorders



Mitochondrial Strokes: Diagnostic Challenges and Chameleons



Dystonia and Hereditary Motor Sensory Neuropathy 6B Due to SLC25A46 Gene Mutations



Митохондриальная энцефаломиопатия, обусловленная недостаточностью пируватдегидрогеназного комплекса: восемь клинических случаев



Diagnosis and Clinical Development of Sporadic Inclusion Body Myositis and Polymyositis With Mitochondrial Pathology: A Single-Center Retrospective Analysis.



Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities



Metabolic and muscle-derived serum biomarkers define CHCHD10-linked late-onset spinal muscular atrophy



Pathology Features of Immune and Inflammatory Myopathies, Including a Polymyositis Pattern, Relate Strongly to Serum Autoantibodies.



Neuroglobin effectively halts vision loss in Harlequin mice at an advanced stage of optic nerve degeneration


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10.1016/j.heliyon.2021.e08111

Conserved spinal cord bioenergetics in experimental autoimmune encephalomyelitis in C57BL6 mice, measured using phosphorescence oxygen analyzer



Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM



Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons



Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis



Antisense Oligonucleotide-Mediated Silencing of Mitochondrial Fusion and Fission Factors Modulates Mitochondrial Dynamics and Rescues Mitochondrial Dysfunction.


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