- Home
- Publications
- Publication Search
- Publication Details
Title
Mitochondrial diseases
Authors
Keywords
-
Journal
Nature Reviews Disease Primers
Volume 2, Issue -, Pages 16080
Publisher
Springer Nature
Online
2016-10-20
DOI
10.1038/nrdp.2016.80
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease
- (2016) Carlo Dionisi-Vici et al. BRAIN
- Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism
- (2016) Joni Nikkanen et al. Cell Metabolism
- Mitochondrial disorders in children: toward development of small-molecule treatment strategies
- (2016) W. J. Koopman et al. EMBO Molecular Medicine
- Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
- (2016) Louise A. Hyslop et al. NATURE
- The neuroimaging of Leigh syndrome: case series and review of the literature
- (2016) Eliana Bonfante et al. PEDIATRIC RADIOLOGY
- Hypoxia as a therapy for mitochondrial disease
- (2016) I. H. Jain et al. SCIENCE
- Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
- (2016) Mary Kay Koenig et al. JAMA Neurology
- RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
- (2015) Aurelio Reyes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
- (2015) Gráinne S. Gorman et al. ANNALS OF NEUROLOGY
- Leigh syndrome: One disorder, more than 75 monogenic causes
- (2015) Nicole J. Lake et al. ANNALS OF NEUROLOGY
- Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders
- (2015) Shuichi Yatsuga et al. ANNALS OF NEUROLOGY
- Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy
- (2015) Joerg P. Halter et al. BRAIN
- Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers
- (2015) Angelica Bianco et al. BRAIN
- Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing
- (2015) Pradeep Reddy et al. CELL
- The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy
- (2015) Aniko Gal et al. CLINICAL NEUROPATHOLOGY
- Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
- (2015) Yi Shiau Ng et al. EUROPEAN HEART JOURNAL
- RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness and multiorgan involvement
- (2015) Alexandre Janer et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
- (2015) Martina Huemer et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
- (2015) Rosalba Carrozzo et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
- (2015) Marni J. Falk et al. MOLECULAR GENETICS AND METABOLISM
- MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases
- (2015) Masami Hashimoto et al. MOLECULAR THERAPY
- The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
- (2015) James B. Stewart et al. NATURE REVIEWS GENETICS
- Mutations causing mitochondrial disease: What is new and what challenges remain?
- (2015) R. N. Lightowlers et al. SCIENCE
- Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice
- (2015) T. Wai et al. SCIENCE
- A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis
- (2015) Mariana C. Rocha et al. Scientific Reports
- Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
- (2015) Gráinne S. Gorman et al. JAMA Neurology
- Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
- (2014) Gerald Pfeffer et al. BRAIN
- Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle
- (2014) Eija Pirinen et al. Cell Metabolism
- NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease
- (2014) Raffaele Cerutti et al. Cell Metabolism
- Mitochondrial Biogenesis: A Therapeutic Target for Neurodevelopmental Disorders and Neurodegenerative Diseases
- (2014) Martine Uittenbogaard et al. CURRENT PHARMACEUTICAL DESIGN
- Treatment of Mitochondrial Disorders
- (2014) Sreenivas Avula et al. Current Treatment Options in Neurology
- Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?
- (2014) H. Tyynismaa et al. EMBO Molecular Medicine
- Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
- (2014) C. Garone et al. EMBO Molecular Medicine
- Treatment of Mitochondrial Disorders
- (2014) Gregory M. Enns JOURNAL OF CHILD NEUROLOGY
- ISCA2mutation causes infantile neurodegenerative mitochondrial disorder
- (2014) Zuhair N Al-Hassnan et al. JOURNAL OF MEDICAL GENETICS
- MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis
- (2014) Lucy Matthews et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature
- (2014) Enke Grabhorn et al. LIVER TRANSPLANTATION
- Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE
- (2014) Javier Torres-Torronteras et al. MOLECULAR THERAPY
- Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
- (2014) Alireza Haghighi et al. Orphanet Journal of Rare Diseases
- Whole exome sequencing reveals mutations inNARS2andPARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
- (2014) Kalliopi Sofou et al. Molecular Genetics & Genomic Medicine
- Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
- (2013) Dario Ronchi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy
- (2013) T. Klopstock et al. BRAIN
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
- (2013) Carla Giordano et al. BRAIN
- Disease progression in patients with single, large-scale mitochondrial DNA deletions
- (2013) J. P. Grady et al. BRAIN
- Nuclear factors: Roles related to mitochondrial deafness
- (2013) Ling-Feng Luo et al. GENE
- Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
- (2013) Yolanda Cámara et al. HUMAN MOLECULAR GENETICS
- 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
- (2013) Saskia B. Wortmann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management
- (2013) V. Nesbitt et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
- (2013) Cornelia Kornblum et al. NATURE GENETICS
- Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease
- (2013) R. L. Davis et al. NEUROLOGY
- Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement
- (2013) B. E. Bax et al. NEUROLOGY
- Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
- (2013) G. Pfeffer et al. NEUROLOGY
- SURF1 deficiency: a multi-centre natural history study
- (2013) Yehani Wedatilake et al. Orphanet Journal of Rare Diseases
- The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations
- (2013) Joshua C. Yelverton et al. OTOLARYNGOLOGY-HEAD AND NECK SURGERY
- Alpers-Huttenlocher Syndrome
- (2013) Russell P. Saneto et al. PEDIATRIC NEUROLOGY
- Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain
- (2013) E. Lapuente-Brun et al. SCIENCE
- mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome
- (2013) S. C. Johnson et al. SCIENCE
- Multiplex Genome Engineering Using CRISPR/Cas Systems
- (2013) L. Cong et al. SCIENCE
- Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
- (2012) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
- (2012) Johannes A. Mayr et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
- (2012) Caterina Garone et al. ARCHIVES OF NEUROLOGY
- Heterogeneity of Coenzyme Q10Deficiency
- (2012) Valentina Emmanuele et al. ARCHIVES OF NEUROLOGY
- Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
- (2012) D. Ronchi et al. BRAIN
- Mitochondria: In Sickness and in Health
- (2012) Jodi Nunnari et al. CELL
- Renal involvement in MELAS syndrome â a series of 5 cases and review of the literature
- (2012) Alexandre Seidowsky et al. CLINICAL NEPHROLOGY
- Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
- (2012) Ivano Di Meo et al. EMBO Molecular Medicine
- Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
- (2012) Jenni M. Elo et al. HUMAN MOLECULAR GENETICS
- Epigenetics, epidemiology and mitochondrial DNA diseases
- (2012) Patrick F Chinnery et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome
- (2012) Diego Martinelli et al. MOLECULAR GENETICS AND METABOLISM
- Mitochondrial disorders as windows into an ancient organelle
- (2012) Scott B. Vafai et al. NATURE
- Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
- (2012) Saskia B Wortmann et al. NATURE GENETICS
- Human mitochondrial DNA: roles of inherited and somatic mutations
- (2012) Eric A. Schon et al. NATURE REVIEWS GENETICS
- Minimizing the damage: repair pathways keep mitochondrial DNA intact
- (2012) Lawrence Kazak et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Erratum
- (2012) NEUROEPIDEMIOLOGY
- Monogenic Mitochondrial Disorders
- (2012) Werner J.H. Koopman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
- (2012) S. E. Calvo et al. Science Translational Medicine
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MELAS: A nationwide prospective cohort study of 96 patients in Japan
- (2011) Shuichi Yatsuga et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy
- (2011) Thomas Klopstock et al. BRAIN
- Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
- (2011) Caterina Garone et al. BRAIN
- In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
- (2011) Carlo Viscomi et al. Cell Metabolism
- Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition
- (2011) Robert W. Gilkerson et al. HUMAN MOLECULAR GENETICS
- Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
- (2011) H. Tyynismaa et al. HUMAN MOLECULAR GENETICS
- Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice
- (2011) Shuichi Yatsuga et al. HUMAN MOLECULAR GENETICS
- Mitochondrial DNA and disease
- (2011) Laura C Greaves et al. JOURNAL OF PATHOLOGY
- FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
- (2011) Anu Suomalainen et al. LANCET NEUROLOGY
- Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
- (2011) Mariana Ferreira et al. NEUROGENETICS
- Functional Outcome of Children With Mitochondrial Diseases
- (2011) Mihael Rogac et al. PEDIATRIC NEUROLOGY
- Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice
- (2011) Manuel Schiff et al. PLoS One
- Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
- (2011) Emiliano González-Vioque et al. PLoS Genetics
- Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
- (2010) Daniele Ghezzi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Mitochondrial Proteome and Human Disease
- (2010) Sarah E. Calvo et al. Annual Review of Genomics and Human Genetics
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
- (2010) T. Honzik et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Translation termination in human mitochondrial ribosomes
- (2010) Ricarda Richter et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Ketogenic diet slows down mitochondrial myopathy progression in mice
- (2010) Sofia Ahola-Erkkilä et al. HUMAN MOLECULAR GENETICS
- A neurological perspective on mitochondrial disease
- (2010) Robert McFarland et al. LANCET NEUROLOGY
- Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
- (2010) Lyndsey Craven et al. NATURE
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- (2010) Tobias B Haack et al. NATURE GENETICS
- Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA
- (2010) K. Wahbi et al. NEUROLOGY
- Mitochondrial DNA depletion syndromes – Many genes, common mechanisms
- (2010) Anu Suomalainen et al. NEUROMUSCULAR DISORDERS
- Caregiver's Burden and Quality of Life in Mitochondrial Disease
- (2010) Kyung Ran Kim et al. PEDIATRIC NEUROLOGY
- A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells
- (2010) O. Shaham et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Managing childhood chronic illness: Parent perspectives and implications for parent-provider relationships.
- (2010) Lyn Kratz et al. Families Systems & Health
- Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
- (2009) Robert Steinfeld et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
- (2009) Henna Tyynismaa et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular evolution of UCP1 and the evolutionary history of mammalian non-shivering thermogenesis
- (2009) David A Hughes et al. BMC EVOLUTIONARY BIOLOGY
- Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
- (2009) R. Horvath et al. BRAIN
- Gene–environment interactions in Leber hereditary optic neuropathy
- (2009) Matthew Anthony Kirkman et al. BRAIN
- Mitochondrial gene replacement in primate offspring and embryonic stem cells
- (2009) Masahito Tachibana et al. NATURE
- Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
- (2009) Valeria Tiranti et al. NATURE MEDICINE
- URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION
- (2009) R. G. Whittaker et al. NEUROLOGY
- Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal
- (2009) Luísa Diogo 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
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
- (2008) David J. Pagliarini et al. CELL
- RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype
- (2008) Tina Wenz et al. Cell Metabolism
- Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
- (2008) Luis C. López et al. HUMAN MOLECULAR GENETICS
- Impact of a Genetic Diagnosis of a Mitochondrial Disorder 5–17 Years After the Death of an Affected Child
- (2008) A. C. Sexton et al. Journal of Genetic Counseling
- Inherited mitochondrial optic neuropathies
- (2008) P Yu-Wai-Man et al. JOURNAL OF MEDICAL GENETICS
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings
- (2008) Kayihan Uluc et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- Human DNA2 Is a Mitochondrial Nuclease/Helicase for Efficient Processing of DNA Replication and Repair Intermediates
- (2008) Li Zheng et al. MOLECULAR CELL
- Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA
- (2008) Michal Minczuk et al. NUCLEIC ACIDS RESEARCH
- Global Transcript Profiles of Fat in Monozygotic Twins Discordant for BMI: Pathways behind Acquired Obesity
- (2008) Kirsi H Pietiläinen et al. PLOS MEDICINE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now