Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

(2019) Heidy Baide-Mairena et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology

(2017) Ann E. Frazier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

(2017) Erika Ogawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Next generation mitochondrial disease: change in diagnostics with eyes on therapy

(2015) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion

(2015) Kenichiro Yamada et al.   JOURNAL OF MEDICAL GENETICS

Clinical and biochemical characterization of four patients with mutations in ECHS1

(2015) Sacha Ferdinandusse et al.   Orphanet Journal of Rare Diseases

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

(2014) Heidi Peters et al.   BRAIN

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

(2009) Hsiu-Fen Lee et al.   PEDIATRIC NEUROLOGY

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

(2008) Karin Naess et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS