Treatment of mitochondrial disorders.

Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity. Pediatr Radiol (2016) 0.98

Treatments for biomedical abnormalities associated with autism spectrum disorder. Front Pediatr (2014) 0.91

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Mol Syndromol (2016) 0.88

Urinary ATP Synthase Subunit β Is a Novel Biomarker of Renal Mitochondrial Dysfunction in Acute Kidney Injury. Toxicol Sci (2015) 0.79

Mitochondrial disease patients' perception of dietary supplements' use. Mol Genet Metab (2016) 0.76

Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia. Int J Mol Sci (2015) 0.76

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management. Pediatr Transplant (2016) 0.75

Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber's Hereditary Optic Neuropathy Cells. Oxid Med Cell Longev (2015) 0.75

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases. EBioMedicine (2017) 0.75

Riboflavin Has Neuroprotective Potential: Focus on Parkinson's Disease and Migraine. Front Neurol (2017) 0.75

Mitochondrial respiratory-chain diseases. N Engl J Med (2003) 8.68

Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature (2009) 4.98

Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet (2008) 3.56

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain (2011) 3.48

Prevalence of nonconvulsive status epilepticus in comatose patients. Neurology (2000) 2.86

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet (2010) 2.81

Survival in critical illness is associated with early activation of mitochondrial biogenesis. Am J Respir Crit Care Med (2010) 2.48

Mitochondrial defects and anesthetic sensitivity. Anesthesiology (2002) 2.23

Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects. Paediatr Anaesth (2007) 2.19

Mitochondria and neuronal activity. Am J Physiol Cell Physiol (2006) 2.11

The glutamate-glutamine cycle is not stoichiometric: fates of glutamate in brain. J Neurosci Res (2007) 2.02

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review. J Inherit Metab Dis (2008) 1.95

A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve (1997) 1.78

Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders. Ann Neurol (2001) 1.77

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73

L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology (2005) 1.63

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia (2008) 1.60

Mitochondrial approaches for neuroprotection. Ann N Y Acad Sci (2008) 1.48

Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve (2007) 1.45

A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol (2009) 1.32

The role of mitochondrial dysfunction in sepsis-induced multi-organ failure. Virulence (2013) 1.29

Wolff-Parkinson-White syndrome in Patients With MELAS. Arch Neurol (2007) 1.29

Mitochondrial diseases: therapeutic approaches. Biosci Rep (2007) 1.28

N-acetylcysteine inhibits muscle fatigue in humans. J Clin Invest (1994) 1.27

Mitochondrial diseases and epilepsy. Epilepsia (2012) 1.26

New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26

Molecular pathology of MELAS and L-arginine effects. Biochim Biophys Acta (2011) 1.26

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab (2012) 1.24

N-acetylcysteine enhances muscle cysteine and glutathione availability and attenuates fatigue during prolonged exercise in endurance-trained individuals. J Appl Physiol (1985) (2004) 1.23

Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia (2007) 1.19

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med (2010) 1.18

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. Mol Genet Metab (2012) 1.17

Continuous video EEG for patients with acute encephalopathy in a pediatric intensive care unit. Neurocrit Care (2012) 1.16

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain (2010) 1.14

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. Arch Neurol (2012) 1.12

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol (2006) 1.12

Mitochondrial disease and epilepsy. Dev Med Child Neurol (2012) 1.10

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet (2001) 1.09

Mitochondrial dysfunction and resuscitation in sepsis. Crit Care Clin (2010) 1.09

The role of mitochondria in epileptogenesis. Curr Opin Neurol (2002) 1.07

Mitochondria in traumatic brain injury and mitochondrial-targeted multipotential therapeutic strategies. Br J Pharmacol (2012) 1.07

Effect of supplementation with a cysteine donor on muscular performance. J Appl Physiol (1985) (1999) 1.06

Comparison of the effect of alpha-lipoic acid and alpha-tocopherol supplementation on measures of oxidative stress. Free Radic Biol Med (1999) 1.06

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet (2009) 1.05

The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria. Arch Biochem Biophys (1996) 1.05

Partial inhibition of complex I activity increases Ca-independent glutamate release rates from depolarized synaptosomes. J Neurochem (2008) 1.04

Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab (2011) 1.03

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia (2008) 1.03

A randomized trial of coenzyme Q10 in mitochondrial disorders. Muscle Nerve (2010) 1.01

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure (2010) 0.98

Mitochondrial dysfunction and biogenesis: do ICU patients die from mitochondrial failure? Ann Intensive Care (2011) 0.98

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr (1997) 0.97

Clinical implications of mitochondrial dysfunction. Anesthesiology (2006) 0.96

General anaesthesia in a man with mitochondrial myopathy undergoing eye surgery. Eur J Anaesthesiol (2001) 0.96

Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. Am J Cardiol (1979) 0.96

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol (2009) 0.96

Ketamine successfully terminates malignant status epilepticus. Epilepsy Res (2008) 0.96

Increased sensitivity to rocuronium and atracurium in mitochondrial myopathy. Can J Anaesth (1998) 0.95

Effects of L-arginine on the acute phase of strokes in three patients with MELAS. Neurology (2002) 0.95

Anaesthesia and mitochondrial disease. Paediatr Anaesth (1998) 0.94

Long-term safety of dichloroacetate in congenital lactic acidosis. Mol Genet Metab (2013) 0.93

Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA. Metab Brain Dis (2007) 0.93

Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet. Epileptic Disord (2012) 0.92

Mitochondrial modulators for bipolar disorder: a pathophysiologically informed paradigm for new drug development. Aust N Z J Psychiatry (2012) 0.90

Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). J Child Neurol (2005) 0.89

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. Med Sci Monit (2011) 0.88

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models. Br J Pharmacol (2014) 0.88

Ketogenic diet in Alpers-Huttenlocher syndrome. Pediatr Neurol (2009) 0.88

Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth (2011) 0.88

Anesthetic considerations in patients presenting with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Anesth Analg (1997) 0.86

Anesthetic management of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) during laparotomy. J Anesth (2007) 0.86

Resistance to cisatracurium in a patient with MELAS syndrome. Paediatr Anaesth (2005) 0.86

Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy. Brain Dev (2008) 0.86

Epileptic phenotypes in children with respiratory chain disorders. Epilepsia (2010) 0.85

Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. J Neuroophthalmol (2013) 0.85

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. J Pediatr Neurosci (2013) 0.85

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation. Neurology (2006) 0.84

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. J Pediatr (2003) 0.84

Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy. Mitochondrion (2012) 0.82

[Characteristics of status epilepticus in MELAS. Analysis of four cases]. Neurologia (2006) 0.82

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. JAMA Neurol (2013) 0.82

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene. Brain Dev (2011) 0.82

"Erratic" complex partial status epilepticus as a presenting feature of MELAS. Epilepsy Behav (2006) 0.80

Adeno-associated virus-mediated gene therapy for metabolic myopathy. Hum Gene Ther (2013) 0.80

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review. Epilepsy Behav (2010) 0.80

The effect of antiepileptic drugs on mitochondrial activity: a pilot study. J Child Neurol (2010) 0.80

Sensitivity to mivacurium in a patient with mitochondrial myopathy. Anesthesiology (1996) 0.79

Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease. Sleep Breath (2013) 0.79

Kearns-Sayer syndrome and pancuronium--succinylcholine-induced neuromuscular blockade. Anesthesiology (1979) 0.79

Antimyoclonic effect of levetiracetam in MERRF syndrome. J Neurol Sci (2006) 0.78

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies. Neuromuscul Disord (2012) 0.78

Supplementation with creatine monohydrate in children with mitochondrial encephalomyopathies. Muscle Nerve (1999) 0.78

Drugs and mitochondrial diseases: 40 queries and answers. Expert Opin Pharmacother (2012) 0.77

Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study. Metab Brain Dis (2009) 0.76

Mitochondrial myopathy and anaesthesia. Anaesthesia (1990) 0.76

Induction agent sensitivity and ophthalmoplegia plus. Anaesthesia (1986) 0.76

Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit. J Pediatr (2007) 0.76

Autophagy, the first step towards recovery from critical illness. Crit Care Med (2013) 0.76

Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34

Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14

The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08

Mitochondrial disease: a practical approach for primary care physicians. Pediatrics (2007) 2.06

Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet (2003) 1.51

Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol (2013) 1.50

Nck beta interacts with tyrosine-phosphorylated disabled 1 and redistributes in Reelin-stimulated neurons. Mol Cell Biol (2003) 1.34

Acute management of propionic acidemia. Mol Genet Metab (2011) 1.30

Natural history of propionic acidemia. Mol Genet Metab (2011) 1.24

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res (2011) 1.01

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A (2013) 0.93

Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesia. Anesth Analg (2009) 0.91

A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. Am J Med Genet (2002) 0.86

Aicardi syndrome in a genotypic male. Ophthalmic Genet (2008) 0.81

Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Ann Neurol (2004) 0.80

Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis. Arch Neurol (2009) 0.80

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Am J Med Genet A (2013) 0.80

Neurotransmitter abnormalities and response to supplementation in SPG11. Mol Genet Metab (2012) 0.79

Clinical utility gene card for: Holoprosencephaly. Eur J Hum Genet (2010) 0.79

Otolaryngologic manifestations of mitochondrial cytopathies. Am J Otolaryngol (2008) 0.78

Late infantile neuronal ceroid lipofuscinosis and dopamine deficiency. J Child Neurol (2011) 0.78

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med (2006) 0.77

Neurocognitive phenotype of isolated methylmalonic acidemia. Pediatrics (2012) 0.77

Neurologic disorders due to mitochondrial DNA mutations. Semin Pediatr Neurol (2012) 0.76

The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives. Mitochondrion (2005) 0.75

Squeezing in a LiNbO3 integrated optical waveguide circuit. Opt Express (2002) 0.75

International telemedicine consultations for neurodevelopmental disabilities. Telemed J E Health (2014) 0.75

Neuroimaging of lipid storage disorders. Dev Disabil Res Rev (2013) 0.75