Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

(2011) Catherine Glatz et al.   MITOCHONDRION

Mitochondrial dysfunction in epilepsy

(2011) Jaroslava Folbergrová et al.   MITOCHONDRION

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

(2010) Andrew J. Trevelyan et al.   BRAIN

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

(2010) Charalampos Tzoulis et al.   BRAIN

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: Case analysis with literature review

(2010) Kenneth R. Kaufman et al.   EPILEPSY & BEHAVIOR

A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation

(2010) M. D. Herrero-Martin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

(2010) Zhaoxia Wang et al.   NEUROPATHOLOGY

Acute, Reversible Axonal Energy Failure During Stroke-Like Episodes in MELAS

(2010) M. A. Farrar et al.   PEDIATRICS

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images

(2009) Tetsuya Tsujikawa et al.   BRAIN & DEVELOPMENT

MELAS With A3243G Mutation Presenting With Occipital Status Epilepticus

(2009) Shefali Karkare et al.   JOURNAL OF CHILD NEUROLOGY

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN

Serial brain imaging analysis of stroke-like episodes in MELAS

(2008) Hiromichi Ito et al.   BRAIN & DEVELOPMENT

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

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

(2008) Shintaro Yamashita et al.   JOURNAL OF HUMAN GENETICS

MRI and diffusion-weighted imaging followup of a stroke-like event in a patient with MELAS

(2008) S. Stoquart-ElSankari et al.   JOURNAL OF NEUROLOGY

The role of complex I genes in MELAS: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA

(2008) Rita Horváth et al.   NEUROMUSCULAR DISORDERS

Clinical and Genetic Features in a MELAS Child With a 3271T>C Mutation

(2008) Hsiao-Feng Chou et al.   PEDIATRIC NEUROLOGY

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

(2008) Charalampos Tzoulis et al.   STROKE

Inappropriate intracranial hemodynamics in the natural course of MELAS

(2007) Junko Nishioka et al.   BRAIN & DEVELOPMENT