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 › S2__MITNGS_S2_
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.
Rakovic A et al.
Parkinson's Disease, 2011
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