Associated Papers
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
Matthews E et al.
Journal of Human Genetics, 2024
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
Srivastava P et al.
Frontiers in Genetics, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
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
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
Vögtle FN et al.
American Journal of Human Genetics, 2018
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