Leigh Syndrome

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.

October 17, 2021

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.

Current Opinion in Neurobiology
Melissa A WalkerVamsi K Mootha
October 13, 2021
Open Access

Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity.

International Journal of Molecular Sciences
Ajibola B BakareShilpa Iyer
October 13, 2021

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Human Molecular Genetics
Sebastian KenvinHenna Tyynismaa
October 11, 2021

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

Orphanet Journal of Rare Diseases
Anna ArdissoneIsabella Moroni
October 9, 2021

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Archives of Disease in Childhood. Fetal and Neonatal Edition
Tomohiro EbiharaKei Murayama
October 7, 2021

The Gro3p factor: Restoring NAD+/NADH homeostasis to ameliorate mitochondrial disease.

Cell Metabolism
Divakar S Mithal, Navdeep S Chandel
September 30, 2021
Case Report
Open Access

Successful recovery from severe hypertension in a patient with Leigh syndrome.

Molecular Genetics and Metabolism Reports
Yuto AraiKiyoshi Nagumo
September 29, 2021
Open Access

Iron Status Influences Mitochondrial Disease Progression in Complex I-Deficient Mice

BioRxiv : the Preprint Server for Biology
A. S. GrilloMatt Kaeberlein
September 29, 2021

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Nobuhiko OkamotoKenjiro Kosaki
September 27, 2021

A colorimetric biosensor for ultrasensitive detection of the SURF1 gene based on a dual DNA-induced cascade hybridization reaction.

Analytical Methods : Advancing Methods and Applications
Tianxiao YuJun Ge
September 20, 2021
Case Report

Late-onset Leigh syndrome without delayed development in China: A case report.

World Journal of Clinical Cases
Jian-Min LiangXue-Mei Wu
September 20, 2021
Case Report

MEGDEL Syndrome and Its Anesthetic Implications.

Balazs HorvathBenjamin Kloesel
September 16, 2021

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.

Molecular Genetics and Metabolism Reports
Yurika Numata-UematsuKen Inoue
September 6, 2021
Case Report

Bilateral horizontal gaze palsy in an 8-year-old girl: A rare case with NDUFS4 gene mutation.

Clinical Case Reports
Mohammad Vafaee-ShahiLeila Tahernia
August 30, 2021
Open Access

Leigh Syndrome: A Tale of Two Genomes.

Frontiers in Physiology
Ajibola B BakareShilpa Iyer
August 27, 2021
Open Access

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation.

Annals of Indian Academy of Neurology
Nafiye Emel Çakar, Orhan Görükmez

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