Treatment of Mitochondrial Disorders

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models

(2013) J C Komen et al.   BRITISH JOURNAL OF PHARMACOLOGY

Adeno-Associated Virus–Mediated Gene Therapy for Metabolic Myopathy

(2013) Cathryn S. Mah et al.   HUMAN GENE THERAPY

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

(2013) Ewa Pronicka et al.   MEDICAL SCIENCE MONITOR

Long-term safety of dichloroacetate in congenital lactic acidosis

(2013) Monica Abdelmalak et al.   MOLECULAR GENETICS AND METABOLISM

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease

(2013) Charalampos Mermigkis et al.   Sleep and Breathing

The role of mitochondrial dysfunction in sepsis-induced multi-organ failure

(2013) Mervyn Singer   Virulence

Mitochondrial Encephalomyopathy Due to a Novel Mutation inACAD9

(2013) Caterina Garone et al.   JAMA Neurology

Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy

(2012) Alfredo A. Sadun   ARCHIVES OF NEUROLOGY

Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development

(2012) Andrew A Nierenberg et al.   AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY

Mitochondria in traumatic brain injury and mitochondrial-targeted multipotential therapeutic strategies

(2012) Gang Cheng et al.   BRITISH JOURNAL OF PHARMACOLOGY

Autophagy, the First Step Towards Recovery From Critical Illness*

(2012) Elliott D. Crouser   CRITICAL CARE MEDICINE

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mitochondrial diseases and epilepsy

(2012) Laurence A. Bindoff et al.   EPILEPSIA

Drugs and mitochondrial diseases: 40 queries and answers

(2012) Michelangelo Mancuso et al.   EXPERT OPINION ON PHARMACOTHERAPY

Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy

(2012) Guenther Rudolph et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

RETRACTED: Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy

(2012) Natalie Noe et al.   MITOCHONDRION

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

(2012) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Continuous Video EEG for Patients with Acute Encephalopathy in a Pediatric Intensive Care Unit

(2012) John M. Schreiber et al.   Neurocritical Care

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies

(2012) Gabriele Siciliano et al.   NEUROMUSCULAR DISORDERS

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene

(2011) Yasutoshi Koga et al.   BRAIN & DEVELOPMENT

Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series

(2011) Carmelina Gurrieri et al.   Canadian Journal of Anesthesia-Journal canadien d anesthesie

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial dysfunction and biogenesis: do ICU patients die from mitochondrial failure?

(2011) Andrey V Kozlov et al.   Annals of Intensive Care

Survival in Critical Illness Is Associated with Early Activation of Mitochondrial Biogenesis

(2010) Jane E. Carré et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Mitochondrial Approaches for Neuroprotection

(2010) Rajnish K. Chaturvedi et al.   Annals of the New York Academy of Sciences

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

(2010) Charalampos Tzoulis et al.   BRAIN

Mitochondrial Dysfunction and Resuscitation in Sepsis

(2010) Albert J. Ruggieri et al.   CRITICAL CARE CLINICS

Epileptic phenotypes in children with respiratory chain disorders

(2010) Sandra El Sabbagh et al.   EPILEPSIA

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

The Effect of Antiepileptic Drugs on Mitochondrial Activity: A Pilot Study

(2010) Itai Berger et al.   JOURNAL OF CHILD NEUROLOGY

A randomized trial of coenzyme Q10in mitochondrial disorders

(2010) Elisa I. Glover et al.   MUSCLE & NERVE

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

(2010) Russell P. Saneto et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts

(2009) F Molinari et al.   CLINICAL GENETICS

A modern approach to the treatment of mitochondrial disease

(2009) Sumit Parikh et al.   Current Treatment Options in Neurology

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

(2009) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study

(2009) S. Arpin et al.   METABOLIC BRAIN DISEASE

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

Ketogenic Diet in Alpers-Huttenlocher Syndrome

(2009) Charuta N. Joshi et al.   PEDIATRIC NEUROLOGY

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy

(2008) Tomohiro Chiyonobu et al.   BRAIN & DEVELOPMENT

Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus

(2008) Johanna Uusimaa et al.   EPILEPSIA

Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions

(2008) Young Mock Lee et al.   EPILEPSIA

Ketamine successfully terminates malignant status epilepticus

(2008) Harald Prüss et al.   EPILEPSY RESEARCH

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review

(2008) M. F. B. Silva et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Partial inhibition of complex I activity increases Ca2+-independent glutamate release rates from depolarized synaptosomes

(2008) Sen M. Kilbride et al.   JOURNAL OF NEUROCHEMISTRY