Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant.
Wang L et al.
Frontiers in Cardiovascular Medicine, 2022
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Pulman J et al.
Molecular Genetics and Metabolism, 2021
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.
Palmer CS et al.
Febs Letters, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Jackson TD et al.
Biochemical Society Transactions, 2018
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Eldomery MK et al.
Genome Medicine, 2016
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
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