Associated Papers
B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene.
Wen Y et al.
Italian Journal of Pediatrics, 2025
Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.
Bahar Ister M et al.
Molecular Syndromology, 2025
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Barbosa-Gouveia S et al.
Genes, 2020
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Şahin S et al.
Journal of the Neurological Sciences, 2016
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
26741492 (PubMed )
Supplement: pgen.1005679.s001.docx
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