Associated Papers
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R et al.
Brain Communications, 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
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.
Wahedi A et al.
Journal of Inherited Metabolic Disease, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.
Howard C et al.
Jimd Reports, 2023
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
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
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
Improved methods for RNAseq-based alternative splicing analysis.
Halperin RF et al.
Scientific Reports, 2021
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.
Uittenbogaard M et al.
Frontiers in Cell and Developmental Biology, 2021
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M et al.
Orphanet Journal of Rare Diseases, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H et al.
Annals of Clinical and Translational Neurology, 2019
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Hemelsoet DM et al.
Neurology. Genetics, 2018
Mitochondrial methionyl N-formylation affects steady-state levels of oxidative phosphorylation complexes and their organization into supercomplexes.
Arguello T et al.
The Journal of Biological Chemistry, 2018
Mitochondrial DNA transcription and translation: clinical syndromes.
Boczonadi V et al.
Essays in Biochemistry, 2018
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
La Piana R et al.
Neurogenetics, 2017
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Martikainen MH et al.
Jama Neurology, 2016
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Pena JA et al.
Journal of Child Neurology, 2016
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ et al.
Annals of Neurology, 2016
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hinttala R et al.
Human Molecular Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
Sinha A et al.
The Journal of Biological Chemistry, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB et al.
Molecular Genetics and Metabolism, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Late onset Leigh syndrome mimicking central nervous system vasculitis.
Prasun P et al.
Molecular Genetics and Metabolism Reports, 2014
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC et al.
Mitochondrion, 2013
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB et al.
Journal of Medical Genetics, 2012
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker EJ et al.
Cell Metabolism, 2011