Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy

The Putative Role of mTOR Inhibitors in Non-tuberous Sclerosis Complex-Related Epilepsy

(2021) Hannah E. Goldstein et al.   Frontiers in Neurology

Molecular basis of Leigh syndrome: a current look

(2020) Manuela Baldo Schubert et al.   Orphanet Journal of Rare Diseases

Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease

(2020) Simon C. Johnson et al.   MOLECULAR GENETICS AND METABOLISM

Current progress in the therapeutic options for mitochondrial disorders.

(2020) E Koňaříková et al.   PHYSIOLOGICAL RESEARCH

Effect of the ketogenic diet on glycemic control, insulin resistance, and lipid metabolism in patients with T2DM: a systematic review and meta-analysis

(2020) Xiaojie Yuan et al.   Nutrition & Diabetes

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

(2019) Sunho Lee et al.   Frontiers in Neurology

Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

(2019) Irene Bolea et al.   eLife

Exploring mTOR inhibition as treatment for mitochondrial disease

(2019) Abigail Sage‐Schwaede et al.   Annals of Clinical and Translational Neurology

Electrographic spikes are common in wildtype mice

(2018) Hannah Purtell et al.   EPILEPSY & BEHAVIOR

mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases

(2018) Simon C. Johnson et al.   KIDNEY INTERNATIONAL

Use of the Ketogenic Diet to Treat Intractable Epilepsy in Mitochondrial Disorders

(2017) Eleni Paleologou et al.   Journal of Clinical Medicine

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

(2016) Robert DS Pitceathly et al.   EMBO Molecular Medicine

Ketogenic diets: from cancer to mitochondrial diseases and beyond

(2016) Ana F. Branco et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Ketogenic diet and childhood neurological disorders other than epilepsy: an overview

(2016) Alberto Verrotti et al.   Expert Review of Neurotherapeutics

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

(2016) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

(2016) Mike Gerards et al.   MOLECULAR GENETICS AND METABOLISM

Ketogenic diet and childhood neurological disorders other than epilepsy: an overview

(2016) Alberto Verrotti et al.   Expert Review of Neurotherapeutics

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Emerging concepts in the therapy of mitochondrial disease

(2015) Carlo Viscomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Role of mTOR inhibitors in epilepsy treatment

(2015) Krzysztof Sadowski et al.   Pharmacological Reports

Dose-dependent effects of mTOR inhibition on weight and mitochondrial disease in mice

(2015) Simon C. Johnson et al.   Frontiers in Genetics

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

Mitochondrial disorders and epilepsy

(2014) I. Desguerre et al.   REVUE NEUROLOGIQUE

mTOR inhibitors as a new therapeutic option for epilepsy

(2013) Paolo Curatolo et al.   Expert Review of Neurotherapeutics

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epilepsy in mitochondrial disorders

(2012) Josef Finsterer et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The ketogenic diet inhibits the mammalian target of rapamycin (mTOR) pathway

(2011) Sharon S. McDaniel et al.   EPILEPSIA

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

mTORC1 controls fasting-induced ketogenesis and its modulation by ageing

(2010) Shomit Sengupta et al.   NATURE

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

(2009) J. C. Oakley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies☆

(2008) M.A. Tarnopolsky   ADVANCED DRUG DELIVERY REVIEWS

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

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

The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

(2008) Elizabeth G Neal et al.   LANCET NEUROLOGY