Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

(2014) Ayman W. El-Hattab et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Metabolic biology of 3-methylglutaconic acid-uria: a new perspective

(2014) Betty Su et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

(2013) William J Craigen et al.   BMC Medical Genetics

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

(2013) Sietske H. Kevelam et al.   BRAIN

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

(2013) Mike Gerards et al.   BRAIN

Clinical recognition and aspects of the cerebral folate deficiency syndromes

(2013) Vincent Ramaekers et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

(2013) Graziela S. Ribas et al.   GENE

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

(2013) Hong Cui et al.   GENETICS IN MEDICINE

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease

(2013) Matthew G.D. Bates et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Effect of a Single Dose of Propofol and Lack of Dextrose Administration in a Child With Mitochondrial Disease

(2013) Haifa Mtaweh et al.   JOURNAL OF CHILD NEUROLOGY

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia

(2013) Nyamkhishig Sambuughin et al.   JOURNAL OF HUMAN GENETICS

Evaluation of the Child With Suspected Mitochondrial Liver Disease

(2013) Jean P. Molleston et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

(2013) Sumit Parikh et al.   MITOCHONDRION

Next generation molecular diagnosis of mitochondrial disorders

(2013) Lee-Jun C. Wong   MITOCHONDRION

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

(2013) Sumit Parikh et al.   MITOCHONDRION

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

(2013) Sirisak Chanprasert 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

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease

(2013) R. L. Davis et al.   NEUROLOGY

Review of Clinical Trials for Mitochondrial Disorders: 1997–2012

(2013) Douglas S. Kerr   Neurotherapeutics

Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome

(2013) Florette K. Hazard et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Swimming Training Induces Liver Mitochondrial Adaptations to Oxidative Stress in Rats Submitted to Repeated Exhaustive Swimming Bouts

(2013) Frederico D. Lima et al.   PLoS One

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

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

(2012) A. V. VANLANDER et al.   ACTA ANAESTHESIOLOGICA SCANDINAVICA

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

(2012) W. Zhang et al.   CLINICAL CHEMISTRY

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

(2012) Samantha E. Marin et al.   GENE

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

(2012) Paul de Laat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

(2012) R.J.T. Rodenburg 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

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

(2012) Costanza Lamperti et al.   MOLECULAR GENETICS AND METABOLISM

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

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

(2012) Gabriele Siciliano et al.   NEUROMUSCULAR DISORDERS

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

(2012) Elizabeth McCormick et al.   Neurotherapeutics

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

(2011) Xiulian Chen et al.   GENETICS IN MEDICINE

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Biochemical parameters to assess choroid plexus dysfunction in Kearns–Sayre syndrome patients

(2011) Mireia Tondo et al.   MITOCHONDRION

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

(2011) Michael J. Goldenthal et al.   MOLECULAR GENETICS AND METABOLISM

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene

(2011) Osamu Sakamoto et al.   PEDIATRICS INTERNATIONAL

Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice

(2011) A. Safdar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

(2011) Atsushi Takata et al.   GENOME BIOLOGY

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Neuroimaging of stroke-like episodes in MELAS

(2010) Hiromichi Ito et al.   BRAIN & DEVELOPMENT

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

(2010) D. Dimmock et al.   CLINICAL CHEMISTRY

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

(2010) Mercedes Serrano et al.   MITOCHONDRION

A randomized trial of coenzyme Q10in mitochondrial disorders

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

Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

(2009) Douglas M. Sproule et al.   Annals of the New York Academy of Sciences

Short- and long-term effects of endurance training in patients with mitochondrial myopathy

(2009) T. D. Jeppesen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes

(2009) A Craig Chinault et al.   GENETICS IN MEDICINE

Endurance exercise is protective for mice with mitochondrial myopathy

(2009) Tina Wenz et al.   JOURNAL OF APPLIED PHYSIOLOGY

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

(2009) E. Leshinsky-Silver et al.   MOLECULAR GENETICS AND METABOLISM

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

(2009) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

(2009) Oswald Hasselmann et al.   MOLECULAR GENETICS AND METABOLISM

URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

(2009) R. G. Whittaker et al.   NEUROLOGY

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

(2009) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

(2009) Sabrina Sacconi et al.   NEUROMUSCULAR DISORDERS

Limb Immobilization Induces a Coordinate Down-Regulation of Mitochondrial and Other Metabolic Pathways in Men and Women

(2009) Arkan Abadi et al.   PLoS One

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

(2009) K. R. Atkuri 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

Diagnosis of mitochondrial DNA depletion syndromes

(2008) S. Rahman et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Mitochondrial disorders and general anaesthesia: a case series and review

(2008) E.J. Footitt et al.   BRITISH JOURNAL OF ANAESTHESIA

Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

(2008) L.-J. C. Wong et al.   CLINICAL CHEMISTRY

Unusual findings in Leigh syndrome caused by T8993C mutation

(2008) Uluç Yiş et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note

(2008) M. C. de Vries et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neuroimaging of mitochondrial disease

(2008) Russell P. Saneto et al.   MITOCHONDRION

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and Brain MR Imaging Features Focusing on the Brain Stem and Cerebellum in Patients with Myoclonic Epilepsy with Ragged-Red Fibers due to Mitochondrial A8344G Mutation

(2007) S. Ito et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

(2007) Georgianne L. Arnold et al.   MOLECULAR GENETICS AND METABOLISM