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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
bioRxiv

Mitochondrial Proteome of Affected Neurons in a Mouse Model of Leigh Syndrome

bioRxivDecember 30, 2019
Alejandro GellaAlbert Quintana
26
bioRxiv

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

bioRxivJanuary 9, 2020
Robin Reynaud-DulaurierMichael Decressac
10
Neurology. Genetics

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

Neurology. GeneticsFebruary 12, 2020
Claudia StendelATP6 Study Group
3
1
American Journal of Human Genetics

Pathogenic Bi-Allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

American Journal of Human GeneticsDecember 24, 2019
Charlotte L AlstonRobert W Taylor
11
1
The Journal of Biological Chemistry

Allosteric regulation of menaquinone (vitamin K2) biosynthesis in the human pathogen Mycobacterium tuberculosis

The Journal of Biological ChemistryFebruary 8, 2020
Ghader BashiriJodie M Johnston
3
Journal of Internal Medicine

Shaping the mitochondrial inner membrane in health and disease

Journal of Internal MedicineFebruary 5, 2020
Lilia Colina-TenorioHeike Rampelt
1
1
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
1
Annals of Clinical and Translational Neurology

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Annals of Clinical and Translational NeurologySeptember 27, 2019
Majid AlfadhelBrahim Tabarki
Journal of Applied Physiology

SS31, a Mitochondrially Targeted Antioxidant, Prevents Sepsis Induced Reductions in Diaphragm Strength and Endurance

Journal of Applied PhysiologyJanuary 17, 2020
Gerald S SupinskiLeigh Ann P Callahan
1
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
2
Frontiers in Neurology

Commentary: Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

Frontiers in NeurologyNovember 7, 2019
Josef Finsterer
1
1
2

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