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Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study

artículo científico publicado en 2018

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

artículo científico publicado en 2013

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

artículo científico publicado en 2015

Loss of myelin-associated glycoprotein in kearns-sayre syndrome

artículo científico publicado en 2012

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

artículo científico publicado en 2012

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

artículo científico publicado en 2015

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

artículo científico publicado en 2014

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

artículo científico publicado en 2015

The genetics and pathology of mitochondrial disease.

scientific article published on 23 September 2016

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

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