Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
SMIM20 promotes complex IV biogenesis and Ca2+ signaling in mice heart.
Boshnakovska A et al.
Cell Reports, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Bilgin H et al.
Molecular Genetics and Metabolism Reports, 2024
More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.
Caron-Godon CA et al.
International Journal of Molecular Sciences, 2024
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN et al.
Pharmaceutics, 2023
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Mitochondrial copper in human genetic disorders.
Garza NM et al.
Trends in Endocrinology and Metabolism: Tem, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Gangfuß A et al.
Human Mutation, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders.
Miliotou AN et al.
Molecular Therapy. Nucleic Acids, 2021
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Rucheton B et al.
Neurology. Genetics, 2021
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.
Rogac M et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mitochondrial disorders of the OXPHOS system.
Fernandez-Vizarra E et al.
Febs Letters, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.
Pavez-Giani MG et al.
Frontiers in Cell and Developmental Biology, 2021
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R et al.
Journal of Clinical Medicine, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.
Kuligina ES et al.
Breast Cancer Research and Treatment, 2020
Mitochondrial functions and rare diseases.
Dard L et al.
Molecular Aspects of Medicine, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase.
Soma S et al.
Cell Reports, 2019
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA et al.
European Journal of Medical Genetics, 2019
Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.
Eschenhagen T et al.
Pflugers Archiv : European Journal of Physiology, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Mitochondrial Sco proteins are involved in oxidative stress defense.
Ekim Kocabey A et al.
Redox Biology, 2019
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Rebelo AP et al.
Brain : a Journal of Neurology, 2018
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.
Hallas T et al.
Journal of Cellular and Molecular Medicine, 2018
Exome Sequence Analysis of 14 Families With High Myopia.
Kloss BA et al.
Investigative Ophthalmology & Visual Science, 2017
Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency.
Finsterer J et al.
The Open Neurology Journal, 2017