Department of Pediatrics
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Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.
Pediatrics Mar, 2003 | Pubmed ID: 12612238
Medical Geneticists' duty to warn at-risk relatives for genetic disease.
American journal of medical genetics. Part A Jul, 2003 | Pubmed ID: 12838558
Cohen syndrome in the Ohio Amish.
American journal of medical genetics. Part A Jul, 2004 | Pubmed ID: 15211651
The primary care physician's approach to congenital anomalies.
Primary care Sep, 2004 | Pubmed ID: 15331250
Maternal uniparental disomy chromosome 14: case report and literature review.
Pediatric neurology Feb, 2005 | Pubmed ID: 15664772
Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.
Current biology : CB Aug, 2006 | Pubmed ID: 16920626
Mitochondrial disease: a practical approach for primary care physicians.
Pediatrics Dec, 2007 | Pubmed ID: 18055683
The in-depth evaluation of suspected mitochondrial disease.
Molecular genetics and metabolism May, 2008 | Pubmed ID: 18243024
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
PLoS genetics Apr, 2008 | Pubmed ID: 18437205
Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.
PloS one , 2009 | Pubmed ID: 19672299
A modern approach to the treatment of mitochondrial disease.
Current treatment options in neurology Nov, 2009 | Pubmed ID: 19891905
Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.
Mitochondrion Mar, 2010 | Pubmed ID: 19900588
Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.
Molecular genetics and metabolism Mar, 2010 | Pubmed ID: 19944634
Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.
Biochemistry Sep, 2010 | Pubmed ID: 20677761
Neurodevelopmental manifestations of mitochondrial disease.
Journal of developmental and behavioral pediatrics : JDBP Sep, 2010 | Pubmed ID: 20814259
Introduction: Emerging research in mitochondrial disease.
Developmental disabilities research reviews Jun, 2010 | Pubmed ID: 20818723
Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.
Developmental disabilities research reviews Jun, 2010 | Pubmed ID: 20818735
Mitochondrial genetic diseases.
Current opinion in pediatrics Dec, 2010 | Pubmed ID: 21045694
Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.
EMBO molecular medicine Jul, 2011 | Pubmed ID: 21567994
Mitochondrial disorders and the eye.
Current opinion in ophthalmology Sep, 2011 | Pubmed ID: 21730846
Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.
Mitochondrion Oct, 2011 | Pubmed ID: 21983691
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
BMC bioinformatics , 2011 | Pubmed ID: 22011106
Optical reversal of halothane-induced immobility in C. elegans.
Current biology : CB Dec, 2011 | Pubmed ID: 22137475
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Human mutation Mar, 2012 | Pubmed ID: 22213154
Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.
Methods in molecular biology (Clifton, N.J.) , 2012 | Pubmed ID: 22215552
Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans.
Methods in molecular biology (Clifton, N.J.) , 2012 | Pubmed ID: 22215553
Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.
Discovery medicine Feb, 2012 | Pubmed ID: 22369973
NMNAT1 mutations cause Leber congenital amaurosis.
Nature genetics Sep, 2012 | Pubmed ID: 22842227
Molecular genetic testing for mitochondrial disease: from one generation to the next.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics Apr, 2013 | Pubmed ID: 23269497
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
Discovery medicine Dec, 2012 | Pubmed ID: 23272691
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Journal of medical genetics Oct, 2013 | Pubmed ID: 23847141
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.
PloS one , 2013 | Pubmed ID: 23894440
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.
Molecular genetics and metabolism Sep-Oct, 2013 | Pubmed ID: 23920046
In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.
Molecular genetics and metabolism Mar, 2014 | Pubmed ID: 24445252
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
JIMD reports , 2014 | Pubmed ID: 24515575
Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.
Journal of molecular biology May, 2014 | Pubmed ID: 24534730
Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.
The international journal of biochemistry & cell biology May, 2014 | Pubmed ID: 24569120
Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.
Cell reports May, 2014 | Pubmed ID: 24856294
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
JIMD reports , 2014 | Pubmed ID: 24973975
Integrative analysis of independent transcriptome data for rare diseases.
Methods (San Diego, Calif.) Oct, 2014 | Pubmed ID: 24981076
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Human molecular genetics Jan, 2015 | Pubmed ID: 25168386
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Journal of medical genetics Feb, 2015 | Pubmed ID: 25412741
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genetics in medicine : official journal of the American College of Medical Genetics Sep, 2015 | Pubmed ID: 25503498
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
Bioinformatics (Oxford, England) Apr, 2015 | Pubmed ID: 25505086
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.
Molecular genetics and metabolism Mar, 2015 | Pubmed ID: 25542617
Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.
Mitochondrion May, 2015 | Pubmed ID: 25744875
Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.
Human molecular genetics Sep, 2015 | Pubmed ID: 26041819
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.
Frontiers in genetics , 2015 | Pubmed ID: 26097489
MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.
Molecular therapy : the journal of the American Society of Gene Therapy Oct, 2015 | Pubmed ID: 26159306
Innovative genomic collaboration using the GENESIS (GEM.app) platform.
Human mutation Oct, 2015 | Pubmed ID: 26173844
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Human mutation 06, 2016 | Pubmed ID: 26919060
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
RNA biology May, 2016 | Pubmed ID: 26950678
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.
Case reports in genetics , 2016 | Pubmed ID: 27069701
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.
Cold Spring Harbor molecular case studies May, 2016 | Pubmed ID: 27148591
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
American journal of human genetics 06, 2016 | Pubmed ID: 27236917
International Paediatric Mitochondrial Disease Scale.
Journal of inherited metabolic disease 09, 2016 | Pubmed ID: 27277220
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
American journal of human genetics Oct, 2016 | Pubmed ID: 27616483
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.
Molecular genetics and metabolism 11, 2016 | Pubmed ID: 27665271
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.
Journal of inherited metabolic disease 03, 2017 | Pubmed ID: 27766444
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.
JCI insight Nov, 2016 | Pubmed ID: 27812541
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.
Neurochemistry international 07, 2018 | Pubmed ID: 28732770
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genetics in medicine : official journal of the American College of Medical Genetics 12, 2017 | Pubmed ID: 28749475
Mitochondrial function requires NGLY1.
Mitochondrion 01, 2018 | Pubmed ID: 28750948
Clinical effects of chemical exposures on mitochondrial function.
Toxicology 11, 2017 | Pubmed ID: 28757096
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
American journal of human genetics Aug, 2017 | Pubmed ID: 28777931
Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.
Annual review of pathology 01, 2018 | Pubmed ID: 29099651
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
Journal of inherited metabolic disease 03, 2018 | Pubmed ID: 29159707
Response to Newman et al.
Genetics in medicine : official journal of the American College of Medical Genetics 12, 2017 | Pubmed ID: 29215644
PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic And Improves GLP-1 Secretion in Human Cells.
Aging and disease Feb, 2018 | Pubmed ID: 29392078
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
Molecular genetics and metabolism 03, 2018 | Pubmed ID: 29428506
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.
Molecular genetics and metabolism 04, 2018 | Pubmed ID: 29526616
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Human mutation 06, 2018 | Pubmed ID: 29539190
Mitochondrial disease patient motivations and barriers to participate in clinical trials.
PloS one , 2018 | Pubmed ID: 29771953
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
Current opinion in pediatrics 12, 2018 | Pubmed ID: 30199403
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genetics in medicine : official journal of the American College of Medical Genetics 04, 2019 | Pubmed ID: 30245513
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.
Human molecular genetics 06, 2019 | Pubmed ID: 30668749
Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.
Cancer research 04, 2019 | Pubmed ID: 30709931
HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction.
Frontiers in physiology , 2019 | Pubmed ID: 31263422
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
American journal of human genetics 08, 2019 | Pubmed ID: 31353023
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.
Neurology 02, 2020 | Pubmed ID: 31896620
Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
Neurology. Genetics Apr, 2020 | Pubmed ID: 32337332
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Clinics in laboratory medicine 06, 2020 | Pubmed ID: 32439066
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Annals of neurology 08, 2020 | Pubmed ID: 32445240
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genetics in medicine : official journal of the American College of Medical Genetics Nov, 2020 | Pubmed ID: 32814847
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery.
Journal of inherited metabolic disease Mar, 2021 | Pubmed ID: 33006762
Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit.
Pediatric research Feb, 2021 | Pubmed ID: 33627817
Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.
Human molecular genetics Feb, 2021 | Pubmed ID: 33640978
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
American journal of medical genetics. Part A Mar, 2021 | Pubmed ID: 33751773
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
American journal of medical genetics. Part A Mar, 2021 | Pubmed ID: 33783954
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