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Leigh Syndrome

Leigh Syndrome diagram by undefined

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
Acta Neuropathologica

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Acta NeuropathologicaAugust 29, 2019
Sandra DonkervoortTimothy E Shutt
9
1
3
Science Translational Medicine

Controlled-release mitochondrial protonophore (CRMP) reverses dyslipidemia and hepatic steatosis in dysmetabolic nonhuman primates

Science Translational MedicineOctober 2, 2019
Leigh GoedekeGerald I Shulman
21
3
The American Journal of Gastroenterology

Back-to-Back Comparison of Colonoscopy With Virtual Chromoendoscopy Using a Third-Generation Narrow-Band Imaging System to Chromoendoscopy With Indigo Carmine in Patients With Lynch Syndrome

The American Journal of GastroenterologySeptember 10, 2019
Christophe CellierElia Samaha
2
1
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research

A Novel Mitochondrial Inhibitor Blocks MAPK Pathway and Overcomes MAPK Inhibitor Resistance in Melanoma

Clinical Cancer Research : an Official Journal of the American Association for Cancer ResearchAugust 22, 2019
Y N Vashisht GopalMichael Q A Davies
9
6
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
Cell Metabolism

Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation

Cell MetabolismAugust 14, 2019
Isha H JainVamsi K. Mootha
71
1
26
1
Chest

Mitochondria and Critical Illness

ChestSeptember 5, 2019
Gerald S SupinskiLeigh Ann P Callahan
18
Journal of Colloid and Interface Science

Effect of the ultrastructure of chitosan nanoparticles in colloidal stability, quorum quenching and antibacterial activities

Journal of Colloid and Interface ScienceSeptember 7, 2019
Celina Vila-SanjurjoFrancisco Martin Goycoolea
4
Histopathology

Widening the spectrum of Lynch syndrome: first report of testicular seminoma attributable to MSH2 loss

HistopathologyAugust 23, 2019
João LoboRui Henrique
7
1
Curēus

Adult Presentation of Subacute Necrotizing Encephalomyelopathy in Two Siblings

CurēusAugust 29, 2019
Kumail Khandwala, Fatima Mubarak
Materials Science & Engineering. C, Materials for Biological Applications

Synthesis and characterization of TPP/chitosan nanoparticles: Colloidal mechanism of reaction and antifungal effect on C. albicans biofilm formation

Materials Science & Engineering. C, Materials for Biological ApplicationsSeptember 11, 2019
Fabíola Galbiatti de CarvalhoAngelo Márcio Leite Denadai
Health Policy

Lethal privacy: Quantifying life years lost if the right to informational self-determination guides genetic screening for Lynch syndrome

Health PolicySeptember 8, 2019
Fabia GansenWolf H Rogowski
6
3
Human Mutation

CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome

Human MutationAugust 26, 2019
Luna LaeraAnna De Grassi
Biomedical Materials

Assessment of various crosslinking agents on collagen/chitosan scaffolds for myocardial tissue engineering

Biomedical MaterialsSeptember 17, 2019
Yongcong FangWei Sun
European Journal of Medical Genetics

The spectrum of Lynch syndrome-associated germ-line mutations in Russia

European Journal of Medical GeneticsSeptember 3, 2019
Grigoriy A YanusEvgeny N. Imyanitov
Cellular and Molecular Life Sciences : CMLS

Insights from Drosophila on mitochondrial complex I

Cellular and Molecular Life Sciences : CMLSSeptember 4, 2019
Shauna-Kay RhoomsEdward Owusu-Ansah
5
Frontiers in Microbiology

Gut Microbiota Analysis in Postoperative Lynch Syndrome Patients

Frontiers in MicrobiologyJuly 30, 2019
Giorgia MoriMaria Rosalia Pasca
6
5
BMC Neurology

Bismuth encephalopathy- a rare complication of long-standing use of bismuth subsalicylate

BMC NeurologyAugust 29, 2019
Cláudia BorbinhaMiguel Viana-Baptista
Brain & Development

Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum

Brain & DevelopmentSeptember 6, 2019
Rei TakadaTomohiro Chiyonobu
Biochemistry. Biokhimii︠a︡

Mechanisms of Non-coenzyme Action of Thiamine: Protein Targets and Medical Significance

Biochemistry. Biokhimii︠a︡August 1, 2019
Vasily AleshinVictoria I Bunik
1

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