Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

(2011) P Yu-Wai-Man et al.   EYE

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

(2011) Cyril Goizet et al.   HUMAN MUTATION

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Heterozygous OPA1 mutations in Behr syndrome

(2010) C. Marelli et al.   BRAIN

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

(2010) Ulf Edener et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

(2010) Tobias Warnecke et al.   MOVEMENT DISORDERS

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

(2009) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Emerging roles of mitochondrial proteases in neurodegeneration

(2009) Paola Martinelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

An Intersubunit Signaling Network Coordinates ATP Hydrolysis by m-AAA Proteases

(2009) Steffen Augustin et al.   MOLECULAR CELL

Visual system involvement in patients with Friedreich's ataxia

(2008) Filippo Fortuna et al.   BRAIN

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

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

(2008) C. Tzoulis et al.   JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY