Associated Papers
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
41312385 (PubMed )
Supplement: mmc4.xlsx › S3.1_pVACseq
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients
Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.
Miliotou AN et al.
Pharmaceutics, 2023
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Gangfuß A et al.
Human Mutation, 2022
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Rucheton B et al.
Neurology. Genetics, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.
Barcia G et al.
Molecular Genetics and Metabolism Reports, 2019
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.
Lasorsa VA et al.
Oncotarget, 2016
27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a
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