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 › S1__MITNGS_S1_
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.
Jian M et al.
Journal of Translational Medicine, 2020
32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
Bourne SC et al.
Cold Spring Harbor Molecular Case Studies, 2017
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G et al.
Journal of Inherited Metabolic Disease, 2008
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Neas K et al.
Journal of Inherited Metabolic Disease, 2005
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