Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

A giant molecular proton pump: structure and mechanism of respiratory complex I

(2015) Leonid A. Sazanov   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

(2015) Hezhi Fang et al.   Scientific Reports

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

(2013) Hong Cui et al.   GENETICS IN MEDICINE

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

(2011) Jessica Nouws et al.   BRAIN

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

(2011) Mariana Ferreira et al.   NEUROGENETICS

Isolation of mitochondria for biogenetical studies: An update

(2009) Erika Fernández-Vizarra et al.   MITOCHONDRION

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

(2008) Rosa Pello et al.   HUMAN MOLECULAR GENETICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY