Mitochondrial Ataxias

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

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

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle

(2008) Andrés Ricardo Pérez Riera et al.   JOURNAL OF ELECTROCARDIOLOGY

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

(2008) Rossella Parini et al.   JOURNAL OF HEPATOLOGY

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation

(2008) M. Liguori et al.   JOURNAL OF NEUROLOGY

Mutations of the E1β subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

(2008) K. Okajima et al.   MOLECULAR GENETICS AND METABOLISM

Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report

(2008) Hélio A.G. Teive et al.   MOVEMENT DISORDERS

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

(2008) Margherita Milone et al.   NEUROMUSCULAR DISORDERS

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

(2008) Giuliana Galassi et al.   NEUROMUSCULAR DISORDERS

Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia

(2008) F.-G. Debray et al.   NEUROPEDIATRICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

(2007) S. Ito et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN