Genetic interaction between the m -AAA protease isoenzymes reveals novel roles in cerebellar degeneration

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

(2008) Caterina Mariotti et al.   CEREBELLUM

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

(2008) A. H. Hakonen et al.   HUMAN MOLECULAR GENETICS

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

(2008) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE