NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

(2020) Jin Sook Lee et al.   CLINICAL GENETICS

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

(2020) Erika Ogawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

(2020) Thomas Johnstone et al.   MOLECULAR GENETICS AND METABOLISM

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

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

(2018) Alessia Catania et al.   JOURNAL OF HUMAN GENETICS

Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I)

(2017) Bernard D. Lemire   MITOCHONDRION

The clinical and genetic characteristics in children with mitochondrial disease in China

(2017) Fang Fang et al.   Science China-Life Sciences

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

(2016) Mike Gerards et al.   MOLECULAR GENETICS AND METABOLISM

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

(2016) Laura Bianciardi et al.   MOLECULAR GENETICS AND METABOLISM

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

(2016) Masakazu Kohda et al.   PLoS Genetics

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

(2016) Mika H. Martikainen et al.   JAMA Neurology

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Leigh syndrome: One disorder, more than 75 monogenic causes

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

Assembly factors for the membrane arm of human complex I

(2013) B. Andrews et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL