Associated Papers
Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.
Epifane-de-Assunção MC et al.
Molecular Neurobiology, 2025
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.
Oikarainen J et al.
Mitochondrion, 2025
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 1_Supplementary_table_S1.xlsx › Suppl_tab_1
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
34469436 (PubMed )
Supplement: pone.0255933.s002.pdf
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Lebon S et al.
Molecular Genetics and Metabolism, 0
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