Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Kayani S et al.
American Journal of Medical Genetics. Part A, 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
Fetal and obstetrics manifestations of mitochondrial diseases.
Adelizzi A et al.
Journal of Translational Medicine, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K et al.
Orphanet Journal of Rare Diseases, 2023
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Baldo MS et al.
Genes, 2023
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Sturm G et al.
Communications Biology, 2023
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.
Sturm G et al.
Scientific Data, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
Tinker RJ et al.
Molecular Genetics and Metabolism, 2022
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Wesół-Kucharska D et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
Mazzaccara C et al.
International Journal of Molecular Sciences, 2021
Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.
Nejabat M et al.
Frontiers in Pediatrics, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.
Katkevica A et al.
Case Reports in Medicine, 2021
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M et al.
Molecular Genetics and Metabolism Reports, 2020
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY et al.
Human Genomics, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
AMP-independent activator of AMPK for treatment of mitochondrial disorders.
Moore T et al.
Plos One, 2020
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
Danis D et al.
Endocrine Regulations, 2018
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Maalej M et al.
Biochemical and Biophysical Research Communications, 2018
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E et al.
Molecular Genetics and Metabolism Reports, 2016
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Hallmann K et al.
Brain : a Journal of Neurology, 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.
Pecina P et al.
Bba Clinical, 2014
Hypertrichosis in presymptomatic mitochondrial disease.
Baertling F et al.
Journal of Inherited Metabolic Disease, 2013
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.
Buda P et al.
Folia Neuropathologica, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Enns GM et al.
Molecular Genetics and Metabolism, 2012
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2009
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L et al.
American Journal of Physiology. Cell Physiology, 2009
High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
Piekutowska-Abramczuk D et al.
Journal of Applied Genetics, 2001