| “Characterization of a novel MT-TL1 pathogenic variant causing late-onset chronic progressive external opthalmoplegia-plus” | September 7, 2023 | | | |
| “Dysmorphology in Mitochondrial Disease” | September 7, 2023 | | | |
| “A reference guide for functional mitochondrial analyses, a new tool in the mitochondrial disease diagnosis repertoire” | September 7, 2023 | | | |
| “Interrogating cell death mechanisms and identifying therapeutic leads in zebrafish surf1-/- models of Leigh syndrome” | September 7, 2023 | | | |
| “Pre-clinical study on novel treatment strategies for RRM2B disease” | September 7, 2023 | | | |
| “Generation of innovative gene-independent therapeutic strategies for mitochondrial optic neuropathies (MONs)” | September 7, 2023 | | | |
| “Exploring the etiologies of multiple low level mitochondrial DNA deletions in muscle tissues” | September 7, 2023 | | | |
| Safety, Efficacy and Mechanism of a Nicotinamidated Fumarate for Leigh Syndrome | September 7, 2023 | | | |
| “Metabolism and Epigenetics of Uveal Melanoma” | September 7, 2023 | | | |
| “Pathogenic variants in MRPS18C cause a complex mitochondrial neurocardiac disorder” | September 7, 2023 | | | |
| “Harnessing the potential of transcriptional adaptation for patients with rare mitochondrial gentic disorders” | September 7, 2023 | | | |
| “Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls.” | September 7, 2023 | | | |
| “Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls.” | September 7, 2023 | | | |
| Leigh Syndrome – LSRP DCC Year 1 | September 7, 2023 | | | |
| Leigh Syndrome Natural History Study | September 7, 2023 | | | |
| Digital Video Assessment for PolG/PMM Patients | September 7, 2023 | | | |
| Perlara Leigh Syndrome Roadmap Project | September 7, 2023 | | | |
| “The role of microglia in AIFM1-associated mitochondrial disease” | September 7, 2023 | | | |
| “Systematic evaluation of laboratory primary endpoints of untargeted therapeutics for pyruvate dehydrogenase complex deficiency” | September 7, 2023 | | | |
| “Resilience and coping in parents of individuals with primary mitochondrial disease: Quantitative and qualitative assessment” | September 7, 2023 | | | |
| “Whole genome sequencing for the diagnosis of mitochondrial disease” | September 7, 2023 | | | |
| “Establishing Embryonic Viability in GUK1-Deficient Mouse Model through Forodesine Treatment: A Potential Therapeutic Approach” | September 7, 2023 | | | |
| “Development of in vitro models of the pathogenic m.3242G>A variant” | September 7, 2023 | | | |
| “Probing the Pathogenic Mechanisms of Parkinsonism-Like Features in a Novel Primary Cell Model for Leigh Syndrome” | September 7, 2023 | | | |
| “Pilot Study of Apple Watches for Monitoring Patients with Mitochondrial Disease.” | September 7, 2023 | | | |
| “The Role of Metaxins in Mitochondrial Health and Homeostasis” | September 7, 2023 | | | |
| “Mitochondrial ribosome signaling and survival mechanisms in mitochondrial disease” | September 7, 2023 | | | |
| “Leveraging a preclinical animal model to repurpose FDA approved drugs for mtDNA depletion syndromes” | September 7, 2023 | | | |
| North American Mitochondrial Disease Consortium | September 7, 2023 | | | |
| Mitochondrial Disease Sequence Data Resource Consortium | September 7, 2023 | | | |
| Gene therapy in mouse models of Leigh Syndrome | September 7, 2023 | | | |
| Induced Pluripotent stem cells (iPSC)-driven drug repositioning for Leigh Syndrome | September 7, 2023 | | | |
| Combining gene replacement and focused ultrasound to treat Leigh Syndrome | September 7, 2023 | | | |
| “Time to harmonize mitochondrial syndromes classification: a consensus from the North American Mitochondrial Disease Consortium (NAMDC)” | September 7, 2023 | | | |
| “Development of a single-chain mitochondrial base editor” | September 7, 2023 | | | |
| “Developing novel therapeutics for Leber Hereditary Optic Neuropathy (LHON) and utilizing in vitro models” | September 7, 2023 | | | |
| “Improving emergency care for mitochondrial patients” | September 7, 2023 | | | |
| “ATPIF1 Expression in Mitochondrial Disease” | September 7, 2023 | | | |
| “Efficacy of Exercise in Patients with Mitochondrial Myopathy” | September 7, 2023 | | | |
| Deletion Syndrome Roadmap Project | September 7, 2023 | | | |
| “Intellectual disability and mitochondrial disease: A cohort study” | September 7, 2023 | | | |
| “Determination of disease-causing variant frequencies in genes associated with pyruvate dehydrogenase deficiency” | September 7, 2023 | | | |
| “Impact of COVID-19 on People Living with Rare Disease and Their Families” | September 7, 2023 | | | |
| “Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease” | September 7, 2023 | | | |
| “An ATP synthesis assay to evaluate genetic variants in complex V” | September 7, 2023 | | | |
| “Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease” | September 7, 2023 | | | |
| Investigating intrinsic and extrinsic factors influencing mitochondrial heteroplasmy in mt-tRNA mutation-linked disease | September 7, 2023 | | | |
| “Implementation of the CRISPR gene editing technology Plasmids – toward the curing of mitochondrial diseases caused by mutations in mitochondrial DNA” | September 7, 2023 | | | |
| Leigh Syndrome Natural History Study | September 7, 2023 | | | |
| “Mechanisms of protein assembly underlying mitochondrial DNA maintenance but altered in early-onset neurodegenerative disorders” | September 7, 2023 | | | |
| “Modulation of the nuclear epigenome as a new strategy for mitochondrial DNA heteroplasmy shift” | September 7, 2023 | | | |
| Using a variety of pre-clinical disease motels to identify novel drug candidates for the treatment of Leigh Syndrome | September 7, 2023 | | | |
| “Natural History of Mitochondrial Myopathy” | September 7, 2023 | | | |
| MEPAN Study | September 7, 2023 | | | |
| “Manipulating Mitochondrial Metabolism Via The Mitochondrial Derived Compartment Pathway” | September 7, 2023 | | | |
| “Can novel mitochondria-targeted hydrogen sulfide delivery molecules restore cellular bioenergetics in primary mitochondrial disease?” | September 7, 2023 | | | |
| “Structural and Functional Characterization of COQ9 in Facilitating Coenzyme Q Biosynthesis and Complex Q Formation” | September 7, 2023 | | | |
| ?LHON Mood Study? | September 7, 2023 | | | |
| “Pearson Syndrome Natrual History Study – Travel Funds Grant” | September 7, 2023 | | | |
| ?Study of Mouse Models of Mitochondrial Optic Neuropathies? | September 7, 2023 | | | |
| ?Photopic Negative Response as an Objective Biomarker in Mitochondrial Disease? | September 7, 2023 | | | |
| Identification of SLC Family Members as Predictive Biomarkers for Mitochondrial Disease? | September 7, 2023 | | | |
| ?A Single Blood Draw Test of Mitochondrial Disease? | September 7, 2023 | | | |
| “Identification of novel compounds to treat rare mitochondrial diseases” | September 7, 2023 | | | |
| “Phenylbutyrate Therapy for Pyruvate Dehydrogenase Deficiency” | September 7, 2023 | | | |
| “Development and Validation of a New Outcome Measure in Mitochondrial Disease” | September 7, 2023 | | | |
| “Mitochondrial Complexome Profiling Provides a Novel Tool to Diagnose and Understand Complex I Deficiency” | September 7, 2023 | | | |
| “Manipulating the Permeability Transition Pore to Ameliorate Neonatal Heart Failure” | September 7, 2023 | | | |
| Cerebral Folate Deficiency | September 7, 2023 | | | |
| “Interrogating the Mitochondrial Interactome Using BioID” | September 7, 2023 | | | |
| “Investigating the Pathogenesis of C12orf65 Deficiency in Mitochondrial Translation and Mitochondrial Disease” | September 7, 2023 | | | |
| “Molecular Mechanisms for Suppression of Mitochondrial Disease by Acarbose” | September 7, 2023 | | | |
| “Quality Control of Unimported Mitochondrial Precursor Proteins” | September 7, 2023 | | | |
| ?Characterizing the Function of the Atypical Mitochondrial Kinase ADCK3.? | September 7, 2023 | | | |
| ?Validation of an Observer Reported Outcome (ObsRO) Measure of Home Functionality in Children with Pyruvate Dehydrogenase Complex Deficiency (PDCD).?? | September 7, 2023 | | | |
| ?Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkersof Mitochondrial Respiratory Chain Disorders.?? | September 7, 2023 | | | |
| ?Kinetics of Mitochondrial Complex Assembly.?? | September 7, 2023 | | | |
| ?Allotopic RNA Rescue of LHON Mouse Model.? | September 7, 2023 | | | |
| ?Vitamins B as Therapy for Disorders with mtDNA Instability.?? | September 7, 2023 | | | |
| ?Targeted delivery of copper to mitochondria: investigating its therapeutic potential for the effective treatment of patients with mutations in SCO1 and SCO2.??? | September 7, 2023 | | | |
| ?Development of an autologous myogenic stem cell therapy for carriers of a heteroplasmic mtDNA mutation, a proof of principle study.?? | September 7, 2023 | | | |
| ?Pathogenesis of myopathies caused by mitochondrial phosphate carrier mutations.? | September 7, 2023 | | | |
| ?Modulation of GSK3 activity to maintain neuronal survival in complex IV deficient mouse.? | September 7, 2023 | | | |
| ?Developing specific mitochondrial nucleases to eliminate mutant mtDNA.? | September 7, 2023 | | | |
| ?A Human Reprogrammed-Cell Model of MELAS.? | September 7, 2023 | | | |
| ?Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism.? | September 7, 2023 | | | |
| ?Using mtDNA mutator mouse-derived lineages to generate mouse models of human mitochondrial diseases.? | September 7, 2023 | | | |
| ?Characterization of disease-specific mitochondrial stress-signaling pathways in vivoas potential therapeutic targets for mitochondrial diseases.? | September 7, 2023 | | | |
| “Developing personalized mitochondrial disease treatment for SURF1 disease patients by modeling effects of candidate therapies in human patient cell and zebrafish animal models” | September 7, 2023 | | | |
| ?Improving CNS delivery of brain antioxidants after acute metabolic decompensation in mitochondrial disease.?? | September 7, 2023 | | | |
| ?Hypogonadotropic hypogonadism in mitochondrial disease: prevalence, phenotypic heterogeneity and hormonal spectrum variations in a tertiary hospital cohort.? | September 7, 2023 | | | |
| ?A Genome-wide RNAi Screening to Identify New Genes Involved in Mitochondrial Diseases.? | September 7, 2023 | | | |
| ?Testing Gene Therapy in an Animal Model of Mitochondrial Respiratory Chain Disorders.? | September 7, 2023 | | | |
| ?Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Exploration of the MRQ B Series? | September 7, 2023 | | | |
| ?Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Evaluation in Cellular Disease Models? | September 7, 2023 | | | |
| ?Rescuing complex I defective mitochondria and target organs with methylene blue.? | September 7, 2023 | | | |
| ?Mechanisms and treatment of mitochondrial deafness.? | September 7, 2023 | | | |
| ?Preclinical studies for the gene therapy of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Long-term follow-up and use of adeno-associated viral vectors.? | September 7, 2023 | | | |
| ?Ultra-high-throughput screening for mitochondrial enhancers as novel targets for treating mitochondrial diseases.? | September 7, 2023 | | | |
| ?Estrogen mediated regulation of mitochondrial biogenesis and functions: possible therapeutic implications for Leber?s hereditary optic neuropathy.? | September 7, 2023 | | | |
| ?Therapeutic Interventions for Pyruvate Dehydrogenase Deficiency.? | September 7, 2023 | | | |
| ?Driving Selection Against Heteroplasmic Mitochondrial DNA Mutations by Enhancing Mitophagy.? | September 7, 2023 | | | |
| ?Deficiencies of tRNA maturation and the pathogenesis of mitochondrial diseases.? | September 7, 2023 | | | |
| ?Regulatory mechanisms governing TFAM-mediated mtDNA copy number control? | September 7, 2023 | | | |
| ?DMCA and Barth Syndromes- similar diseases caused by defects in mitochondrial protein import?? | September 7, 2023 | | | |
| ?Spinocerebellar ataxia with axonal neuropathy: defining the mitochondrial component.? | September 7, 2023 | | | |
| ?Investigating the Rescue of Mitochondrial Dysfunction by SIRT1 and Calorie Restriction.? | September 7, 2023 | | | |
| ?Selecting for Transformation with Mitochondrial DNA.? | September 7, 2023 | | | |
| ?Mitochondrial dysfunction, exercise intolerance and myopathy in skeletal muscle-specific PGC-1?-deficient mice.? | September 7, 2023 | | | |
| ?Evaluation of novel zinc finger nucleases as a means to target m.3243A>G in vivo.? | September 7, 2023 | | | |
| ?Utilization of knockout mouse models to elucidate the importance of the de novo mitochondrial fatty acid synthesis pathway in mitochondrial function.? | September 7, 2023 | | | |
| ?OXPHOS modulation by mitochondrial protein phosphorylation in mtDNA mutant cells.? | September 7, 2023 | | | |
| ?The role of the PINK1/Parkin pathway in mitochondrial integrity.? | September 7, 2023 | | | |
| ?Mitochondrial Fusion Defects in Neurological Disease.? | September 7, 2023 | | | |
| ?Study of redox regulated pathways in the mitochondrion.? | September 7, 2023 | | | |
| ?Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with mitochondrial neurogastrointestional encephalomyopathy.? | September 7, 2023 | | | |
| ?Identifying genetic modifiers of tissue-specific mitochondrial DNA segregation.? | September 7, 2023 | | | |
| ?Pilot study to investigate the efficacy of L-arginine therapy on endothelium-dependent vasodilation & mitochondrial metabolism in MELAS syndrome.? | September 7, 2023 | | | |
| ?Selective alteration of mitochondrial gene expression via modulation of the dual-function h-mtTFB1 and B2 factors as a potential therapy for mitochondrial diseases.? | September 7, 2023 | | | |
| ?Development of a Novel Mass Spectrometric Approach to Measure Mitochondrial Oxidative Damage?In Vivo.? | September 7, 2023 | | | |
| ?Increased mitochondrial biogenesis as therapy to mitochondrial myopathies.? | September 7, 2023 | | | |
| ?Cerium oxide nanoparticles in the treatment of mitochondrial diseases.? | September 7, 2023 | | | |
| ?Defining copper homeostasis in the mitochondria: Recruitment and distribution of copper for the assembly of cuproenzymes.? | September 7, 2023 | | | |
| ?Molecular genetic dissection of mitochondrial complex I assembly? | September 7, 2023 | | | |
| ?Mitochondrial calcium signaling and organelle dysfunction in mitochondrial diseases: molecular?determinants and regulatory mechanisms.? | September 7, 2023 | | | |
| ?Development of high throughput assays for mitochondrial respiratory chain function.? | September 7, 2023 | | | |
| ?Determination of the nuclear transcriptional responses that affect animal physiopathology upon impaired mitochondrial respiratory chain function.? | September 7, 2023 | | | |
| ?Development of high throughput mtDNA sequencing for mutation detection and heteroplasmy assessment.? | September 7, 2023 | | | |
| ?Mutant Complex I in?Drosophila melanogaster: a Novel Genetic Model for Mitochondrial Disease.? | September 7, 2023 | | | |
| ?Mitochondrial DNA synthesis and Krebs (tricarboxylic acid) cycle: the succinyl-CoA synthase.? | September 7, 2023 | | | |
| ?Animal models of human Barth syndrome, a mitochondrial cardiolipin disorder? | September 7, 2023 | | | |
| ?Molecular signatures of mitochondrial disorders? | September 7, 2023 | | | |
| ?Utilization of fission yeast as a model for mitochondrial morphology: a new approach to discover novel genes involved in animal cells? | September 7, 2023 | | | |
| ?Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease? | September 7, 2023 | | | |
| ?Developing therapies for mitochondrial disease? | September 7, 2023 | | | |
| ?Enzymatic, assembly and genetic studies on the human pyruvate dehydrogenase multi-enzyme complex? | September 7, 2023 | | | |
| ?Enzymereplacement therapy: A novel approach for treating a mitochondrial disease-LAD deficiency? | September 7, 2023 | | | |
| ?Defective biogenesis of mitochondrial beta-barrel proteins as a cause for Mohr-Tranebjaerg syndrome? | September 7, 2023 | | | |
| ?High throughput screening for mitochondrial enhancers? | September 7, 2023 | | | |
| ?Barth Syndrome: A Mitochondrial Disease with Insights into Cardiolipin Synthesis? | September 7, 2023 | | | |
| ?Diagnostic Utility of DHPLC in Mitochondrial Disease? | September 7, 2023 | | | |
| ?MitoPLD, a novel enzymatic regulator of mitochondrial morphology and fusion? | September 7, 2023 | | | |
| ?Molecular Basis of Mitochondrial Gene Regulation? | September 7, 2023 | | | |
| ?The Population prevalence of ten mtDNA mutations? | September 7, 2023 | | | |
| ?Identification of novel genes associated with isolated complex I deficiency using whole genome mapping in small consanguineous families? | September 7, 2023 | | | |
| ?Mechanisms of muscle dysfunction studied in mouse models of mitochondrial myopathies? | September 7, 2023 | | | |
| ?Genotype-Phenotype Correlation and Genetic Modifiers in Barth Syndrome.?? | September 7, 2023 | | | |
| ?Biochemical and structural studies on mitochondrial disease mutations in methionyl-tRNA.? | September 7, 2023 | | | |
| ?Role of mitofusin-2, a mitochondria-shaping protein mutated in Charcot-Marie-Tooth IIa, in controlling mitochondrial function and apoptosis.? | September 7, 2023 | | | |
| ?The assembly pathway of human cytochrome-c oxidase studied with RNA interference? | September 7, 2023 | | | |
| ?The Mechanism of Mitochondrial Dysfunction in Paraplegin-Deficient Mice.? | September 7, 2023 | | | |
| ?Genomic Approaches to Human Cytochrome c Oxidase Deficiency? | September 7, 2023 | | | |
| ?Development of a method for transforming mitochondria in living mammalian cells with exogenous DNA? | September 7, 2023 | | | |
| ?Protein phosphatase 2A in mitochondrial function and disease? | September 7, 2023 | | | |
| ?Restoration of thymidine phosphorylase activity in MNGIE patients through platelets infusion? | September 7, 2023 | | | |
| ?The nuclear-encoded gene OMI and mitochondrial disease? | September 7, 2023 | | | |
| ?The hypoxia sensing transcription factor EPAS1/HIF-2a is a novel mitochondrial disease candidate in mice and man? | September 7, 2023 | | | |
| ?Understanding the role of mitochondrial fusion in mitochondrial myopathies? | September 7, 2023 | | | |
| ?Drug development for the regulation of respiratory chain components in mitochondria? | September 7, 2023 | | | |
| ?Selective Elimination of Defective Mitochondrial Genomes as an Approach to the Reversal of NARP and MILS Syndromes, Heritable Mitochondrial Disorders? | September 7, 2023 | | | |
| ?GSH levels, reactive oxygen species production, lipid peroxidation, products and mitochondrial membrane potential in patients with mitochondrial disease? | September 7, 2023 | | | |
| ?Role of Rhomboid Proteolysis in Optic Atrophy? | September 7, 2023 | | | |
| ?Application of RNA interference in the study of NADH-ubiquinone oxidoreductase (complex I) assembly in mammalian mitochondria? | September 7, 2023 | | | |
| ?MtDNA complementation and recombination in mitochondrial disorders? | September 7, 2023 | | | |
| ?The Use of the Yeast CYB2 Gene As Therapy for Complex I Mutations in a C. elegans Model System? | September 7, 2023 | | | |
| ?Exploiting the potential of yeast NDI1 gene in the therapy of diseases linked with mtDNA? | September 7, 2023 | | | |
| ?Exercise-induced mitochondrial gene shifting: Resistance training as a therapy for sporadic mtDNA mutations? | September 7, 2023 | | | |
| ?Electrophysiologic Properties of Neural Stem Cells from Patients with Mitochondrial Disease? | September 7, 2023 | | | |
| ?Transport diseases in mitochondria: Full screening of DNA alterations in human genes encoding TOMM and TIMM complexes in patients with mitochondrial diseases? | September 7, 2023 | | | |
| ?Biochemical Basis for Maternally Inherited Deafness? | September 7, 2023 | | | |
| ?Efficacy of prenatal diagnosis of mitochondrial diseases.? | September 7, 2023 | | | |
| ?Complex I: The role of nuclear genes in disorders of childhood due to mitochondrial Complex I deficiency.? | September 7, 2023 | | | |
| ?Is oxidative damage a result of metabolic abnormalities in Alzheimer disease?? | September 7, 2023 | | | |
| ?Characterization of Mitochondrial Nitric-Oxide Synthase? | September 7, 2023 | | | |
| ?Quantitative In Vivo 1H Magnetic Resonance Spectroscopic Imaging of Cerebral Lactate as a Screening Test for Mitochondrial Disorders? | September 7, 2023 | | | |
| ?Gene mutations in Leigh?s Disease? | September 7, 2023 | | | |
| ?Mitochondrial etiologies of pseudoobstruction and dysmotility in children? | September 7, 2023 | | | |
| ?Efficacy of Prenatal Diagnosis of Mitochondrial Diseases? | September 7, 2023 | | | |
| ?Search for Pathogenic Mitochondrial DNA Mutations Using Temporal Temperature Gradient Gel Electrophoresis (TTGE)? | September 7, 2023 | | | |
| ?Molecular Basis of Mitochondrial Membrane Dynamics: a New Paradigm of Human Disease? | September 7, 2023 | | | |
