Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes

CHCHD10P80L knock-in zebrafish display a mild ALS-like phenotype.

Experimental neurology·2024

Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.

Neuropediatrics·2006

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Human molecular genetics·2001

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication.

Human molecular genetics·2001

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Neurology·2001

Nuclear genetic defects of oxidative phosphorylation.

Human molecular genetics·2001

Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post-Herpetic Neuralgia Patients.

Annals of neurology·2026

Atherosclerotic Cardiovascular Diseases Increase ALS Risk by 82% While Optimal Cardiovascular Health Halves It: A 0.5-Million Prospective Cohort Study.

Annals of neurology·2026

Non-contrast CT Markers of Hematoma Expansion and Andexanet Response in Factor Xa Inhibitor-Associated Intracerebral Hemorrhage: An Analysis from ANNEXa-I Trial.

Annals of neurology·2026

Tracking Socio-emotional Brain Changes in Premanifest C9orf72 Repeat Expansion Carriers: A Structural and Functional 2-Year Longitudinal Magnetic Resonance Imaging Study.

Annals of neurology·2026

Hippocampal Seizure-Related Burden is Associated with Accelerated Long-Term Forgetting in Focal Epilepsy.

Annals of neurology·2026

T Cell-Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy.

Annals of neurology·2026

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory·2026

Audiological Features in Pendred Syndrome: A Scoping Review.

The journal of international advanced otology·2026

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Journal of blood medicine·2026

Mitochondrial Function-Related Genes in Sleep Disorders: A Multi-Omics Mendelian Randomization Study.

Journal of molecular neuroscience : MN·2026

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.

Frontiers in endocrinology·2026

Multi-trait GWAS identifies pleiotropic loci shared between early pregnancy bleeding and psychiatric traits.

Frontiers in psychiatry·2026

Related Experiment Videos

Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes

Related Concept Videos

CHCHD10P80L knock-in zebrafish display a mild ALS-like phenotype.

Maternal segmental disomy in Leigh syndrome with cytochrome c oxidase deficiency caused by homozygous SURF1 mutation.

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Nuclear genetic defects of oxidative phosphorylation.

Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post-Herpetic Neuralgia Patients.

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Non-contrast CT Markers of Hematoma Expansion and Andexanet Response in Factor Xa Inhibitor-Associated Intracerebral Hemorrhage: An Analysis from ANNEXa-I Trial.

Tracking Socio-emotional Brain Changes in Premanifest C9orf72 Repeat Expansion Carriers: A Structural and Functional 2-Year Longitudinal Magnetic Resonance Imaging Study.

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T Cell-Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy.

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Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes

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