Associated Papers
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi M et al.
Biomolecules, 2022
36008935 (PubMed )
Supplement: biomolecules-12-01043-s001.zip › biomolecules-1806599-supplementary-proof_done-update.pdf
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
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.
Yoo DH et al.
Mitochondrion, 2017
Association between SCO2 mutation and extreme myopia in Japanese patients.
Wakazono T et al.
Japanese Journal of Ophthalmology, 2016
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Jaksch M et al.
Human Molecular Genetics, 2000
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Papadopoulou LC et al.
Nature Genetics, 1999
Select a paper to view details