Marni J. Falk

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.

Medical Geneticists' duty to warn at-risk relatives for genetic disease.

Cohen syndrome in the Ohio Amish.

The primary care physician's approach to congenital anomalies.

Maternal uniparental disomy chromosome 14: case report and literature review.

Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.

Mitochondrial disease: a practical approach for primary care physicians.

The in-depth evaluation of suspected mitochondrial disease.

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.

A modern approach to the treatment of mitochondrial disease.

Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

Neurodevelopmental manifestations of mitochondrial disease.

Introduction: Emerging research in mitochondrial disease.

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.

Mitochondrial genetic diseases.

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.

Mitochondrial disorders and the eye.

Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Optical reversal of halothane-induced immobility in C. elegans.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans.

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

NMNAT1 mutations cause Leber congenital amaurosis.

Molecular genetic testing for mitochondrial disease: from one generation to the next.

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.

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

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

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

Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.

Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.

Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Integrative analysis of independent transcriptome data for rare diseases.

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.

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.

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

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.

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.

Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.

Innovative genomic collaboration using the GENESIS (GEM.app) platform.

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

International Paediatric Mitochondrial Disease Scale.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Mitochondrial function requires NGLY1.

Clinical effects of chemical exposures on mitochondrial function.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

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

Response to Newman et al.

PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic And Improves GLP-1 Secretion in Human Cells.

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit.

Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.