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Mitochondrial Disease: A Practical Approach for Primary Care Physicians

https://doi.org/10.1542/peds.2007-0391

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/archneur.62.5.737openalex-snapshot

Brain Magnetic Resonance Imaging Findings in Patients With Mitochondrial Cytopathies

inferredcites →https://doi.org/10.1002/ajmg.1378openalex-snapshot

Cytochrome c oxidase deficiency

inferredcites →https://doi.org/10.1002/ajmg.1397openalex-snapshot

Respiratory chain complex I deficiency

inferredcites →https://doi.org/10.1002/ana.75openalex-snapshot

The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

inferredcites →https://doi.org/10.1002/jnr.21015openalex-snapshot

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

inferredcites →https://doi.org/10.1007/bf01799112openalex-snapshot

Clinical presentation of mitochondrial disorders in childhood

inferredcites →https://doi.org/10.1007/s002340050868openalex-snapshot

Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients

inferredcites →https://doi.org/10.1007/s004310050063openalex-snapshot

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls

inferredcites →https://doi.org/10.1007/s10545-006-0227-xopenalex-snapshot

Dietary intervention and oxidative phosphorylation capacity

inferredcites →https://doi.org/10.1007/s11064-006-9190-zopenalex-snapshot

Human Coenzyme Q10 Deficiency

inferredcites →https://doi.org/10.1016/0003-9861(83)90602-1openalex-snapshot

Influence of valproic acid on hepatic carbohydrate and lipid metabolism

inferredcites →https://doi.org/10.1016/0022-510x(89)90088-9openalex-snapshot

Focal cytochrome c oxidase deficiency in various neuromuscular diseases

inferredcites →https://doi.org/10.1016/0960-8966(92)90045-8openalex-snapshot

MELAS: An original case and clinical criteria for diagnosis

inferredcites →https://doi.org/10.1016/j.bbabio.2004.09.005openalex-snapshot

The epidemiology of mitochondrial disorders—past, present and future

inferredcites →https://doi.org/10.1016/j.bbadis.2003.09.010openalex-snapshot

Inhibition of brain energy metabolism by the α-keto acids accumulating in maple syrup urine disease

inferredcites →https://doi.org/10.1016/j.ijdevneu.2005.11.002openalex-snapshot

Mechanism of toxicity of the branched‐chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment

inferredcites →https://doi.org/10.1016/j.mito.2004.07.008openalex-snapshot

Neuroimaging of mitochondrial disorders

inferredcites →https://doi.org/10.1016/j.nmd.2004.12.008openalex-snapshot

Mitochondrial encephalomyopathies: an update

inferredcites →https://doi.org/10.1016/j.pediatrneurol.2005.07.011openalex-snapshot

Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

inferredcites →https://doi.org/10.1016/j.tig.2005.04.003openalex-snapshot

Nuclear genes and mitochondrial translation: a new class of genetic disease

inferredcites →https://doi.org/10.1016/j.ymgme.2004.01.011openalex-snapshot

Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts

inferredcites →https://doi.org/10.1016/s0022-3476(05)80734-6openalex-snapshot

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

inferredcites →https://doi.org/10.1016/s0140-6736(00)02556-3openalex-snapshot

Oxidative-phosphorylation defects in liver of patients with Wilson's disease

inferredcites →https://doi.org/10.1016/s0140-6736(99)07219-0openalex-snapshot

Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

inferredcites →https://doi.org/10.1016/s1090-3798(99)90050-8openalex-snapshot

Menkes disease: study of the mitochondrial respiratory chain in three cases

inferredcites →https://doi.org/10.1017/s0012162206000284openalex-snapshot

Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases

inferredcites →https://doi.org/10.1017/s001216220600048xopenalex-snapshot

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

inferredcites →https://doi.org/10.1023/a:1006868130002openalex-snapshot

Impaired mitochondrial oxidative phosphorylation in skeletal muscle of the dystrophin-deficient mdx mouse

inferredcites →https://doi.org/10.1046/j.1563-2571.2001.01036.xopenalex-snapshot

Cerebrospinal‐Fluid Lactate in Adult Mitochondriopathy with and without Encephalopathy

inferredcites →https://doi.org/10.1053/ejpn.2001.0483openalex-snapshot

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

inferredcites →https://doi.org/10.1055/s-2005-872807openalex-snapshot

Brain MRI and Proton MRS Findings in Infants and Children with Respiratory Chain Defects

inferredcites →https://doi.org/10.1074/jbc.m502391200openalex-snapshot

Oxidative Stress Is Responsible for Mitochondrial Permeability Transition Induction by Salicylate in Liver Mitochondria

inferredcites →https://doi.org/10.1080/07853890510007368openalex-snapshot

Mitochondrial DNA and disease

inferredcites →https://doi.org/10.1080/15216540600686888openalex-snapshot

Mitochondrial DNA mutations in human disease

inferredcites →https://doi.org/10.1093/brain/awg170openalex-snapshot

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

inferredcites →https://doi.org/10.1093/brain/awh259openalex-snapshot

Mitochondrial disorders

inferredcites →https://doi.org/10.1093/jnen/60.5.493openalex-snapshot

The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria

inferredcites →https://doi.org/10.1093/nar/gkh048openalex-snapshot

MitoProteome: mitochondrial protein sequence database and annotation system

inferredcites →https://doi.org/10.1097/01.jnen.0000229987.17548.6eopenalex-snapshot

POLG1Mutations Associated With Progressive Encephalopathy in Childhood

inferredcites →https://doi.org/10.1111/j.1365-2788.1991.tb01045.xopenalex-snapshot

Mitochondrial myopathy in Marinesco‐Sjögren syndrome

inferredcites →https://doi.org/10.1111/j.1749-6632.2000.tb05494.xopenalex-snapshot

A Comparision of Genetic Mitochondrial Disease and Nucleoside Analogue Toxicity: Does Fetal Nucleoside Toxicity Underlie Reports of Mitochondrial Disease in Infants Born to Women Treated for HIV Infection?

inferredcites →https://doi.org/10.1128/mcb.01665-05openalex-snapshot

Gene Expression Analysis Exposes Mitochondrial Abnormalities in a Mouse Model of Rett Syndrome

inferredcites →https://doi.org/10.1136/adc.2005.075317openalex-snapshot

The significance of elevated CSF lactate

inferredcites →https://doi.org/10.1136/adc.2005.091637openalex-snapshot

The incidence of inherited metabolic disorders in the West Midlands, UK

inferredcites →https://doi.org/10.1136/jmg.2005.039339openalex-snapshot

Tissue specific distribution of the 3243A→G mtDNA mutation

inferredcites →https://doi.org/10.1136/jnnp.69.2.248openalex-snapshot

Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS?

inferredcites →https://doi.org/10.1177/088307389100600102openalex-snapshot

Review Article: Carnitine, Valproate, and Toxicity

inferredcites →https://doi.org/10.1212/01.wnl.0000031795.91814.d8openalex-snapshot

Mitochondrial disorders

inferredcites →https://doi.org/10.1212/01.wnl.0000033795.17156.00openalex-snapshot

Diagnostic criteria for respiratory chain disorders in adults and children

inferredcites →https://doi.org/10.1212/wnl.31.11.1473openalex-snapshot

Inhibitory effects of sodium valproate on oxidative phosphorylation

inferredcites →https://doi.org/10.1212/wnl.41.7.1043openalex-snapshot

Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome

inferredcites →https://doi.org/10.1212/wnl.49.1.113openalex-snapshot

Time course of the apparent diffusion coefficient (ADC) abnormality in human stroke

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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Bridging the Clinical-Research Gap: Harnessing an Electronic Data Capture, Integration, and Visualization Platform to Systematically Assess Prospective Patient-Reported Outcomes in Mitochondrial Medicine

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Mitochondrial Genetics

inferred← citeshttps://doi.org/10.1002/0471142905.hg1900s63openalex-snapshot

Mitochondrial Genetics

inferred← citeshttps://doi.org/10.1002/0471142905.hg1900s69openalex-snapshot

Mitochondrial Genetics

inferred← citeshttps://doi.org/10.1002/0471142905.hg1900s71openalex-snapshot

Mitochondrial Genetics

inferred← citeshttps://doi.org/10.1002/ajhb.23629openalex-snapshot

Mitochondrial genetic variation in human bioenergetics, adaptation, and adult disease

inferred← citeshttps://doi.org/10.1002/ana.24506openalex-snapshot

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

inferred← citeshttps://doi.org/10.1002/ddrr.104openalex-snapshot

Molecular genetics of mitochondrial disorders

inferred← citeshttps://doi.org/10.1002/ddrr.112openalex-snapshot

Autism and mitochondrial disease

inferred← citeshttps://doi.org/10.1002/humu.24107openalex-snapshot

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

inferred← citeshttps://doi.org/10.1002/jimd.12319openalex-snapshot

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

inferred← citeshttps://doi.org/10.1002/mco2.70385openalex-snapshot

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

inferred← citeshttps://doi.org/10.1007/8904_2013_287openalex-snapshot

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

inferred← citeshttps://doi.org/10.1007/978-1-4614-3722-2_3openalex-snapshot

Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions

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Current Progress and Future Perspectives: Toward Mitochondrial Medicine

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Mitochondrial Deficits/Disorders

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Mitochondrial Dysfunction in Psychiatric Disorders

inferred← citeshttps://doi.org/10.1007/978-1-4939-0440-2_17openalex-snapshot

Mitochondrial Dysfunction in Autism

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The Pre-sedation Assessment and Implications on Management

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Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans

inferred← citeshttps://doi.org/10.1007/978-1-61779-504-6_3openalex-snapshot

Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes

inferred← citeshttps://doi.org/10.1007/978-1-62703-101-1_1openalex-snapshot

Clinical Approach to the Diagnosis of Mitochondrial Disease

inferred← citeshttps://doi.org/10.1007/978-3-030-30402-7_2openalex-snapshot

New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder

inferred← citeshttps://doi.org/10.1007/978-3-030-70147-5_8openalex-snapshot

Biochemical Diagnosis of Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1007/978-3-031-30010-3_14openalex-snapshot

Transition of Sleep Care in Patients with Neuromuscular and Neurodegenerative Disorders

inferred← citeshttps://doi.org/10.1007/978-3-031-62589-3_7openalex-snapshot

Intestinal Motor Disorders

inferred← citeshttps://doi.org/10.1007/978-3-319-19674-9_10openalex-snapshot

Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1007/978-3-319-23675-9_8openalex-snapshot

Social Disparities in Lung Growth and Respiratory Health

inferred← citeshttps://doi.org/10.1007/978-3-540-74723-9_14openalex-snapshot

Anesthesia and Metabolic Disease

inferred← citeshttps://doi.org/10.1007/978-3-540-74723-9_32openalex-snapshot

Suspected Mitochondrial Disorder

inferred← citeshttps://doi.org/10.1007/978-3-642-00663-0_11openalex-snapshot

Mitochondrial Involvement in Drug-Induced Liver Injury

inferred← citeshttps://doi.org/10.1007/978-3-642-41866-2_211openalex-snapshot

Neurometabolische und neurodegenerative Erkrankungen

inferred← citeshttps://doi.org/10.1007/978-3-642-54053-0_7openalex-snapshot

Intestinal Motor Disorders

inferred← citeshttps://doi.org/10.1007/978-3-662-49410-3_20openalex-snapshot

Anesthesia and Metabolic Disease

inferred← citeshttps://doi.org/10.1007/978-981-4585-72-9_5openalex-snapshot

Imaging of Mitochondrial Disorders: A Review

inferred← citeshttps://doi.org/10.1007/s00431-014-2431-2openalex-snapshot

Zellweger syndrome and secondary mitochondrial myopathy

inferred← citeshttps://doi.org/10.1007/s00439-015-1608-8openalex-snapshot

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

inferred← citeshttps://doi.org/10.1007/s00467-022-05869-8openalex-snapshot

Kidney tubular injury induced by valproic acid: systematic literature review

inferred← citeshttps://doi.org/10.1007/s10545-010-9081-yopenalex-snapshot

Biochemical diagnosis of mitochondrial disorders

inferred← citeshttps://doi.org/10.1007/s10545-017-0111-xopenalex-snapshot

Propionyl‐CoA carboxylase pcca‐1 and pccb‐1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

inferred← citeshttps://doi.org/10.1007/s10803-011-1216-yopenalex-snapshot

Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder

inferred← citeshttps://doi.org/10.1007/s11011-023-01224-4openalex-snapshot

Exploring sulforaphane as neurotherapeutic: targeting Nrf2-Keap & Nf-Kb pathway crosstalk in ASD

inferred← citeshttps://doi.org/10.1007/s11940-009-0046-0openalex-snapshot

A modern approach to the treatment of mitochondrial disease

inferred← citeshttps://doi.org/10.1007/s11940-017-0443-8openalex-snapshot

New Assessments and Treatments in ASD

inferred← citeshttps://doi.org/10.1007/s12035-021-02492-wopenalex-snapshot

Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India

inferred← citeshttps://doi.org/10.1007/s13238-017-0499-yopenalex-snapshot

Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs

inferred← citeshttps://doi.org/10.1007/s13311-012-0167-0openalex-snapshot

Mitochondrial Disease in Childhood: mtDNA Encoded

inferred← citeshttps://doi.org/10.1007/s13311-012-0170-5openalex-snapshot

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

inferred← citeshttps://doi.org/10.1007/s13311-012-0173-2openalex-snapshot

Genetic Counseling in Mitochondrial Disease

inferred← citeshttps://doi.org/10.1007/s13311-012-0174-1openalex-snapshot

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

inferred← citeshttps://doi.org/10.1007/s13311-013-0185-6openalex-snapshot

Mitochondrial Disease in Childhood: Nuclear Encoded

inferred← citeshttps://doi.org/10.1007/s40142-018-0138-9openalex-snapshot

Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies

inferred← citeshttps://doi.org/10.1016/b978-0-12-407694-5.00007-9openalex-snapshot

Automated Methods for the Analysis of Skeletal Muscle Fiber Size and Metabolic Type

inferred← citeshttps://doi.org/10.1016/b978-0-12-802896-4.00008-0openalex-snapshot

Mitochondrial disorders

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Genetics of Mitochondrial Respiratory Chain Disease

inferred← citeshttps://doi.org/10.1016/b978-0-12-813570-9.00007-3openalex-snapshot

The Molecular Genetics of Oogenesis

inferred← citeshttps://doi.org/10.1016/b978-0-12-821562-3.00004-6openalex-snapshot

Plant molecules to treat eye mitochondria

inferred← citeshttps://doi.org/10.1016/b978-0-12-824060-1.00046-8openalex-snapshot

Neurometabolic disorders

inferred← citeshttps://doi.org/10.1016/b978-0-12-824356-5.00013-8openalex-snapshot

Therapeutic role of nutraceuticals in mitochondrial disorders

inferred← citeshttps://doi.org/10.1016/b978-0-323-75608-2.00200-7openalex-snapshot

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)

inferred← citeshttps://doi.org/10.1016/b978-0-443-41379-7.00006-8openalex-snapshot

Mitochondrial disorders

inferred← citeshttps://doi.org/10.1016/b978-1-4377-0755-7.00081-6openalex-snapshot

Defects in Metabolism of Carbohydrates

inferred← citeshttps://doi.org/10.1016/b978-1-4377-0792-2.50010-9openalex-snapshot

Genetic Disorders

inferred← citeshttps://doi.org/10.1016/b978-3-437-23076-9.00005-xopenalex-snapshot

Neurometabolische und neurodegenerative Krankheiten

inferred← citeshttps://doi.org/10.1016/b978-343723075-2.10006-8openalex-snapshot

Neurometabolische und neurodegenerative Erkrankungen

inferred← citeshttps://doi.org/10.1016/b978-84-8086-959-1.00081-xopenalex-snapshot

10.1016/b978-84-8086-959-1.00081-x

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Genetics of Mitochondrial Disease

inferred← citeshttps://doi.org/10.1016/j.apnr.2015.03.010openalex-snapshot

Stress and coping of parents caring for a child with mitochondrial disease

inferred← citeshttps://doi.org/10.1016/j.bbadis.2023.166682openalex-snapshot

NF-κB-inducing kinase maintains mitochondrial efficiency and systemic metabolic homeostasis

inferred← citeshttps://doi.org/10.1016/j.bbadis.2025.167996openalex-snapshot

The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I

inferred← citeshttps://doi.org/10.1016/j.bbagen.2011.10.014openalex-snapshot

Prevention of mitochondrial disease inheritance by assisted reproductive technologies: Prospects and challenges

inferred← citeshttps://doi.org/10.1016/j.bbagrm.2012.02.003openalex-snapshot

Mechanism of transcription initiation by the yeast mitochondrial RNA polymerase

inferred← citeshttps://doi.org/10.1016/j.biocel.2010.01.004openalex-snapshot

Mitochondrial medicine for neurodegenerative diseases

inferred← citeshttps://doi.org/10.1016/j.biocel.2012.08.009openalex-snapshot

Mouse models of mitochondrial complex I dysfunction

inferred← citeshttps://doi.org/10.1016/j.biocel.2014.01.020openalex-snapshot

Coenzyme Q10 as a therapy for mitochondrial disease

inferred← citeshttps://doi.org/10.1016/j.cell.2015.03.051openalex-snapshot

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

inferred← citeshttps://doi.org/10.1016/j.cell.2016.08.008openalex-snapshot

Cellular Metabolism and Induced Pluripotency

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Modifying the Mitochondrial Genome

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The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos

inferred← citeshttps://doi.org/10.1016/j.ejmg.2020.103952openalex-snapshot

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation

inferred← citeshttps://doi.org/10.1016/j.ejmhg.2012.08.002openalex-snapshot

Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy

inferred← citeshttps://doi.org/10.1016/j.ejmhg.2013.03.002openalex-snapshot

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a Japanese child: Clinical, radiological and molecular genetic analysis

inferred← citeshttps://doi.org/10.1016/j.freeradbiomed.2016.01.001openalex-snapshot

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

inferred← citeshttps://doi.org/10.1016/j.gendis.2020.07.002openalex-snapshot

Mitochondrial dysfunction: A hidden trigger of autism?

inferred← citeshttps://doi.org/10.1016/j.jchemneu.2017.12.004openalex-snapshot

Reinforcing mitochondrial functions in aging brain: An insight into Parkinson's disease therapeutics

inferred← citeshttps://doi.org/10.1016/j.jchromb.2021.122863openalex-snapshot

Distinct metabolic alterations in different Caenorhabditis elegans mitochondrial mutants

inferred← citeshttps://doi.org/10.1016/j.jcma.2011.05.006openalex-snapshot

Lactate peak on brain MRS in children with syndromic mitochondrial diseases

inferred← citeshttps://doi.org/10.1016/j.jfma.2014.04.007openalex-snapshot

Three-parent embryo: The therapeutic future for inherited mitochondrial diseases

inferred← citeshttps://doi.org/10.1016/j.jpsychires.2014.04.017openalex-snapshot

Inflammatory mediators of cognitive impairment in bipolar disorder

inferred← citeshttps://doi.org/10.1016/j.mad.2013.02.007openalex-snapshot

Mitochondrial deficiency in Cockayne syndrome

inferred← citeshttps://doi.org/10.1016/j.mito.2008.05.003openalex-snapshot

Neuroimaging of mitochondrial disease

inferred← citeshttps://doi.org/10.1016/j.mito.2009.07.002openalex-snapshot

Phenotypic suppression of the Drosophila mitochondrial disease-like mutant tko25t by duplication of the mutant gene in its natural chromosomal context

inferred← citeshttps://doi.org/10.1016/j.mito.2010.08.010openalex-snapshot

Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies

inferred← citeshttps://doi.org/10.1016/j.mito.2012.11.004openalex-snapshot

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

inferred← citeshttps://doi.org/10.1016/j.mito.2013.07.116openalex-snapshot

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

inferred← citeshttps://doi.org/10.1016/j.mito.2014.11.004openalex-snapshot

Association of circulating cytochrome c with clinical manifestations of antiretroviral-induced toxicity

inferred← citeshttps://doi.org/10.1016/j.mito.2016.11.002openalex-snapshot

Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India

inferred← citeshttps://doi.org/10.1016/j.mito.2017.03.006openalex-snapshot

Mitochondrial dysfunction underlying outer retinal diseases

inferred← citeshttps://doi.org/10.1016/j.mito.2017.07.008openalex-snapshot

Mitochondrial function requires NGLY1

inferred← citeshttps://doi.org/10.1016/j.mito.2017.09.004openalex-snapshot

High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans

inferred← citeshttps://doi.org/10.1016/j.mito.2018.06.002openalex-snapshot

Gene therapy for the mitochondrial genome: Purging mutations, pacifying ailments

inferred← citeshttps://doi.org/10.1016/j.nbd.2013.02.012openalex-snapshot

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

inferred← citeshttps://doi.org/10.1016/j.ncl.2015.08.011openalex-snapshot

Neuropsychiatric Features in Primary Mitochondrial Disease

inferred← citeshttps://doi.org/10.1016/j.neuint.2017.07.008openalex-snapshot

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

inferred← citeshttps://doi.org/10.1016/j.neuroscience.2026.08.040openalex-snapshot

Post-mortem and high field MRI and MR spectroscopy insights into the neurobiology of autism

inferred← citeshttps://doi.org/10.1016/j.nmd.2014.11.017openalex-snapshot

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

inferred← citeshttps://doi.org/10.1016/j.nmd.2026.106370openalex-snapshot

Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction

inferred← citeshttps://doi.org/10.1016/j.omtn.2022.10.012openalex-snapshot

Mitochondrion-targeted RNA therapies as a potential treatment strategy for mitochondrial diseases

inferred← citeshttps://doi.org/10.1016/j.pediatrneurol.2014.02.009openalex-snapshot

Approach to the Diagnosis and Treatment of Cyclic Vomiting Syndrome: A Large Single-Center Experience With 106 Patients

inferred← citeshttps://doi.org/10.1016/j.pediatrneurol.2014.08.009openalex-snapshot

Role of Plasma Amino Acids and Urinary Organic Acids in Diagnosis of Mitochondrial Diseases in Children

inferred← citeshttps://doi.org/10.1016/j.pedn.2015.08.007openalex-snapshot

The Parent Experience of Caring for a Child with Mitochondrial Disease

inferred← citeshttps://doi.org/10.1016/j.pedneo.2014.03.009openalex-snapshot

Diagnostic Approach in Infants and Children with Mitochondrial Diseases

inferred← citeshttps://doi.org/10.1016/j.pedneo.2014.10.001openalex-snapshot

Treatment and Clinical Outcome of Juvenile Dermatomyositis

inferred← citeshttps://doi.org/10.1016/j.psc.2015.02.002openalex-snapshot

The Use of Cerebrospinal Fluid and Neuropathologic Studies in Neuropsychiatry Practice and Research

inferred← citeshttps://doi.org/10.1016/j.rdc.2013.02.006openalex-snapshot

Noninflammatory Myopathies

inferred← citeshttps://doi.org/10.1016/j.redox.2021.101871openalex-snapshot

Down syndrome is an oxidative phosphorylation disorder

inferred← citeshttps://doi.org/10.1016/j.seizure.2010.01.002openalex-snapshot

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

inferred← citeshttps://doi.org/10.1016/j.seizure.2011.08.010openalex-snapshot

Dravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects

inferred← citeshttps://doi.org/10.1016/j.siny.2011.05.002openalex-snapshot

Mitochondrial hepatopathies in the newborn period

inferred← citeshttps://doi.org/10.1016/j.spen.2012.09.005openalex-snapshot

Update on Nuclear Mitochondrial Genes and Neurologic Disorders

inferred← citeshttps://doi.org/10.1016/j.spen.2012.09.006openalex-snapshot

Neurologic Disorders Due to Mitochondrial DNA Mutations

inferred← citeshttps://doi.org/10.1016/j.tcb.2014.11.002openalex-snapshot

Protecting the mitochondrial powerhouse

inferred← citeshttps://doi.org/10.1016/j.ymeth.2008.10.002openalex-snapshot

Identification of mitochondrial disease genes through integrative analysis of multiple datasets

inferred← citeshttps://doi.org/10.1016/j.ymgme.2007.11.007openalex-snapshot

Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans

inferred← citeshttps://doi.org/10.1016/j.ymgme.2007.11.018openalex-snapshot

The in-depth evaluation of suspected mitochondrial disease

inferred← citeshttps://doi.org/10.1016/j.ymgme.2010.02.024openalex-snapshot

Current molecular diagnostic algorithm for mitochondrial disorders

inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.07.011openalex-snapshot

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

inferred← citeshttps://doi.org/10.1016/j.ymgme.2013.12.011openalex-snapshot

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans

inferred← citeshttps://doi.org/10.1016/j.ymgme.2016.04.009openalex-snapshot

Solid organ transplantation in primary mitochondrial disease: Proceed with caution

inferred← citeshttps://doi.org/10.1016/j.ymgme.2017.04.007openalex-snapshot

Hospitalizations for mitochondrial disease across the lifespan in the U.S.

inferred← citeshttps://doi.org/10.1016/j.ymgme.2020.06.011openalex-snapshot

Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications

inferred← citeshttps://doi.org/10.1016/j.ymgme.2022.09.002openalex-snapshot

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

inferred← citeshttps://doi.org/10.1016/j.ymgme.2024.108348openalex-snapshot

Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

inferred← citeshttps://doi.org/10.1016/s0212-5382(12)70114-0openalex-snapshot

Enfermedades mitocondriales: problemas en la planta de producción de energía

inferred← citeshttps://doi.org/10.1038/gt.2010.25openalex-snapshot

Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease

inferred← citeshttps://doi.org/10.1038/mp.2010.136openalex-snapshot

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

inferred← citeshttps://doi.org/10.1038/mp.2011.165openalex-snapshot

A review of research trends in physiological abnormalities in autism spectrum disorders: immune dysregulation, inflammation, oxidative stress, mitochondrial dysfunction and environmental toxicant exposures

inferred← citeshttps://doi.org/10.1038/nature11647openalex-snapshot

Towards germline gene therapy of inherited mitochondrial diseases

inferred← citeshttps://doi.org/10.1038/nrdp.2016.80openalex-snapshot

Mitochondrial diseases

inferred← citeshttps://doi.org/10.1038/nrneph.2010.99openalex-snapshot

Life-threatening reversible acidosis caused by alcohol abuse

inferred← citeshttps://doi.org/10.1038/pr.2017.250openalex-snapshot

Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease

inferred← citeshttps://doi.org/10.1051/bioconf/20248601014openalex-snapshot

Mitochondrial Pharmacotherapeutics - Advancements and Applications

inferred← citeshttps://doi.org/10.1055/s-0032-1306387openalex-snapshot

Mitochondrial Syndromes with Leukoencephalopathies

inferred← citeshttps://doi.org/10.1056/nejmcpc0804642openalex-snapshot

Case 28-2008

inferred← citeshttps://doi.org/10.1073/pnas.0906039107openalex-snapshot

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

inferred← citeshttps://doi.org/10.1080/02713683.2025.2527755openalex-snapshot

Characterizing Retinal Mitochondrial Function and Its Relations to Intraretinal Thicknesses in Healthy Adults

inferred← citeshttps://doi.org/10.1089/ars.2009.2788openalex-snapshot

Potential Therapeutic Benefits of Strategies Directed to Mitochondria

inferred← citeshttps://doi.org/10.1093/hmg/dds509openalex-snapshot

Mutations in human DNA polymerase confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients

inferred← citeshttps://doi.org/10.1093/humupd/dmn035openalex-snapshot

Ooplasmic and nuclear transfer to prevent mitochondrial DNA disorders: conceptual and normative issues

inferred← citeshttps://doi.org/10.1093/jnen/nly042openalex-snapshot

Sdha+/- Rats Display Minimal Muscle Pathology Without Significant Behavioral or Biochemical Abnormalities

inferred← citeshttps://doi.org/10.1093/med/9780199664771.003.0013openalex-snapshot

Symptoms falling on deaf ears

inferred← citeshttps://doi.org/10.1097/01.mxe.0000422779.05483.d7openalex-snapshot

Screening seven common mitochondrial mutations in 28 Egyptian patients with suspected mitochondrial disease

inferred← citeshttps://doi.org/10.1097/01.nurse.0000413616.59485.cfopenalex-snapshot

Mitochondrial diseases

inferred← citeshttps://doi.org/10.1097/dbp.0b013e3181c3ed2aopenalex-snapshot

Late Onset Autistic Symptoms and Other Fluctuating Behaviors

inferred← citeshttps://doi.org/10.1097/dbp.0b013e3181db78e3openalex-snapshot

Late Onset Autistic Symptoms and Other Fluctuating Behaviors

inferred← citeshttps://doi.org/10.1097/dbp.0b013e3181ef42c1openalex-snapshot

Neurodevelopmental Manifestations of Mitochondrial Disease

inferred← citeshttps://doi.org/10.1097/icu.0b013e328349419dopenalex-snapshot

Mitochondrial disorders and the eye

inferred← citeshttps://doi.org/10.1097/iio.0b013e31823bbe56openalex-snapshot

Inherited Retinal Degenerations With Systemic Manifestations

inferred← citeshttps://doi.org/10.1097/inf.0b013e318234c886openalex-snapshot

Point-of-care Capillary Blood Lactate Measurements in Human Immunodeficiency Virus–uninfected Children With In Utero Exposure to Human Immunodeficiency Virus and Antiretroviral Medications

inferred← citeshttps://doi.org/10.1097/mop.0b013e328306ebb6openalex-snapshot

Disorders of mitochondrial function

inferred← citeshttps://doi.org/10.1097/mop.0b013e32835e78ccopenalex-snapshot

Programming of respiratory health in childhood

inferred← citeshttps://doi.org/10.1097/pec.0000000000002751openalex-snapshot

Medical Management of Children With Autism in the Emergency Department

inferred← citeshttps://doi.org/10.1101/2025.07.16.664929openalex-snapshot

ndufs2 -/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid

inferred← citeshttps://doi.org/10.1101/483065openalex-snapshot

Bioinformatics Approach to Identify Diseasome and Co-morbidities Effect of Mitochondrial Dysfunctions on the Progression of Neurological Disorders

inferred← citeshttps://doi.org/10.1101/cshperspect.a011395openalex-snapshot

Clinical and Molecular Features of POLG-Related Mitochondrial Disease

inferred← citeshttps://doi.org/10.1101/cshperspect.a025130openalex-snapshot

DNA Damage, DNA Repair, Aging, and Neurodegeneration

inferred← citeshttps://doi.org/10.1109/iccit48885.2019.9038388openalex-snapshot

Comorbidity Effects of Mitochondrial Dysfunction to the Progression of Neurological Disorders: Insights from a Systems Biomedicine Perspective

inferred← citeshttps://doi.org/10.1111/aos.12897openalex-snapshot

Genetic aetiology of ophthalmological manifestations in children – a focus on mitochondrial disease‐related symptoms

inferred← citeshttps://doi.org/10.1111/head.12750openalex-snapshot

Migraine Variants or Episodic Syndromes That May Be Associated With Migraine and Other Unusual Pediatric Headache Syndromes

inferred← citeshttps://doi.org/10.1111/j.1365-2982.2012.01960.xopenalex-snapshot

Cyclical vomiting syndrome in children: a prospective study

inferred← citeshttps://doi.org/10.1111/j.1399-3046.2011.01635.xopenalex-snapshot

Mitochondrial electron transport chain deficiency, cardiomyopathy, and long‐term cardiac transplant outcome

inferred← citeshttps://doi.org/10.1111/j.1440-1754.2012.02585.xopenalex-snapshot

Early cardiac evaluation in children with non‐specific mitochondrial disease with isolated mitochondrial respiratory chain complex I defect

inferred← citeshttps://doi.org/10.1111/j.1651-2227.2009.01428.xopenalex-snapshot

Clinical characteristics of patients with non‐specific and non‐categorized mitochondrial diseases

inferred← citeshttps://doi.org/10.1111/j.1753-4887.2009.00221.xopenalex-snapshot

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction

inferred← citeshttps://doi.org/10.1126/science.aad9642openalex-snapshot

Hypoxia as a therapy for mitochondrial disease

inferred← citeshttps://doi.org/10.1134/s0026893310050018openalex-snapshot

Mitochondrial genome and human mitochondrial diseases

inferred← citeshttps://doi.org/10.1136/bcr-2020-237592openalex-snapshot

Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family

inferred← citeshttps://doi.org/10.1136/bjo.2008.154187openalex-snapshot

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

inferred← citeshttps://doi.org/10.1136/jmedgenet-2018-105800openalex-snapshot

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

inferred← citeshttps://doi.org/10.1155/2013/249171openalex-snapshot

Performance of Clinical Criteria for Screening of Possible Antiretroviral Related Mitochondrial Toxicity in HIV-Infected Children in Accra

inferred← citeshttps://doi.org/10.1159/000363562openalex-snapshot

Autism and Medical Comorbidities

inferred← citeshttps://doi.org/10.1176/appi.ajp-rj.2016.110705openalex-snapshot

Psychiatric Implications of Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1177/0883073809343313openalex-snapshot

Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease

inferred← citeshttps://doi.org/10.1177/0883073812442589openalex-snapshot

Pilot Study on Executive Function and Adaptive Skills in Adolescents and Young Adults With Mitochondrial Disease

inferred← citeshttps://doi.org/10.1177/1099800415617848openalex-snapshot

Relationship of Mitochondrial Enzymes to Fatigue Intensity in Men With Prostate Cancer Receiving External Beam Radiation Therapy

inferred← citeshttps://doi.org/10.1177/1941406414531929openalex-snapshot

Supporting Children With Mitochondrial Disorders

inferred← citeshttps://doi.org/10.1177/21501319231193875openalex-snapshot

Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

inferred← citeshttps://doi.org/10.1177/2326409817707771openalex-snapshot

Coenzyme Q10 in the Treatment of Mitochondrial Disease

inferred← citeshttps://doi.org/10.1186/1742-2094-7-80openalex-snapshot

Mitochondrial DNA and anti-mitochondrial antibodies in serum of autistic children

inferred← citeshttps://doi.org/10.1186/2050-2974-1-40openalex-snapshot

Clinician identification of youth abusing over-the-counter products for weight control in a large U.S. integrated health system

inferred← citeshttps://doi.org/10.1186/gm100openalex-snapshot

Next generation sequence analysis for mitochondrial disorders

inferred← citeshttps://doi.org/10.1186/s12993-018-0135-xopenalex-snapshot

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

inferred← citeshttps://doi.org/10.1186/s13023-018-0949-5openalex-snapshot

A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015

inferred← citeshttps://doi.org/10.1186/s13023-018-0951-yopenalex-snapshot

Fear of disease progression in carriers of the m.3243A > G mutation

inferred← citeshttps://doi.org/10.1203/pdr.0b013e318212f16bopenalex-snapshot

Mitochondrial Dysfunction Can Connect the Diverse Medical Symptoms Associated With Autism Spectrum Disorders

inferred← citeshttps://doi.org/10.1212/01.con.0000440664.34051.4dopenalex-snapshot

Multidisciplinary Approach to the Management of Myopathies

inferred← citeshttps://doi.org/10.1212/con.0000000000000805openalex-snapshot

Mitochondrial and Metabolic Myopathies

inferred← citeshttps://doi.org/10.1242/dmm.052804openalex-snapshot

Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease

inferred← citeshttps://doi.org/10.1261/rna.080257.124openalex-snapshot

Mitochondrial tRNA modifications: functions, diseases caused by their loss, and treatment strategies

inferred← citeshttps://doi.org/10.1274/jmor.33.89openalex-snapshot

Challenges Towards Establishing Germline Gene Therapy for Inherited Mitochondrial Diseases

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