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Leigh Syndrome

Leigh Syndrome diagram by Miller et al, PLOS One
Miller et al, PLOS One

Leigh syndrome, caused by a dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. Discover the latest research on Leigh syndrome here.

Top 20 most recent papers
Neurology. Genetics

Delineating MT-ATP6 -associated disease: From isolated neuropathy to early onset neurodegeneration

Neurology. GeneticsFebruary 12, 2020
Claudia StendelATP6 Study Group
Journal of Internal Medicine

Shaping the mitochondrial inner membrane in health and disease

Journal of Internal MedicineFebruary 5, 2020
Lilia Colina-TenorioHeike Rampelt
Molecular Metabolism

Two genomes, one cell: Mitochondrial-nuclear coordination via epigenetic pathways

Molecular MetabolismMarch 29, 2020
Meike Wiese, Andrew J Bannister

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome

bioRxivJanuary 9, 2020
Robin Reynaud-DulaurierMichael Decressac
Orphanet Journal of Rare Diseases

Correction to: Molecular basis of Leigh syndrome: a current look

Orphanet Journal of Rare DiseasesMarch 28, 2020
Manuela Schubert Baldo, Laura Vilarinho
The Science of the Total Environment

Factors affecting co-valorization of fayalitic and ferronickel slags for the production of alkali activated materials

The Science of the Total EnvironmentMarch 15, 2020
Konstantinos KomnitsasEvangelos Petrakis
Molecular Genetics and Metabolism Reports

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism ReportsJanuary 8, 2020
S PajaresA Ribes
Journal of Inherited Metabolic Disease

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Journal of Inherited Metabolic DiseaseMarch 12, 2020
Marisa W FriederichJohan L K Van Hove
Molecular Genetics & Genomic Medicine

Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency

Molecular Genetics & Genomic MedicineMarch 13, 2020
Deyu ChenJianxin Lyu
Hereditary Cancer in Clinical Practice

Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study

Hereditary Cancer in Clinical PracticeJanuary 1, 2020
Kathleen F MittendorfKatrina A B Goddard
International Journal of Biological Macromolecules

Permeability improvement of polyethersulfone-polietylene glycol (PEG-PES) flat sheet type membranes by tripolyphosphate-crosslinked chitosan (TPP-CS) coating

International Journal of Biological MacromoleculesMarch 1, 2020
Retno Ariadi LusianaMohd Hafiz Dzarfan Othman

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