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Publications by Patrick F. Chinnery
Nuclear-Mitochondrial DNA Segments Resemble Paternally Inherited Mitochondrial DNA in Humans
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation
Brain
Medicine
Neurology
Reply: Sensorineural Hearing Loss in OPA1-linked Disorders
Brain
Medicine
Neurology
Fall in Circulating Mononuclear Cell Mitochondrial DNA Content in Human Sepsis
Intensive Care Medicine
Critical Care
Intensive Care Medicine
Identification of a Novel Heterozygous Guanosine Monophosphate Reductase ( GMPR ) Variant in a Patient With a Late‐onset Disorder of Mitochondrial DNA Maintenance
Clinical Genetics
Genetics
Respiratory Chain Deficiency in Nonmitochondrial Disease
Neurology: Genetics
Neurology
Genetics
In Vitro Supplementation With Deoxynucleoside Monophosphates Rescues Mitochondrial DNA Depletion
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Phenotypic Convergence of Menkes and Wilson Disease
Neurology: Genetics
Neurology
Genetics
Whole Exome Sequencing and the Clinician: We Need Clinical Skills and Functional Validation in Variant Filtering
Journal of Neurology
Neurology
Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets
Current Neurology and Neuroscience Reports
Neuroscience
Neurology
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