Associated Papers
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.
Mandia D et al.
Journal of Inherited Metabolic Disease, 2026
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
França MM et al.
Journal of the Endocrine Society, 2020
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A et al.
Human Molecular Genetics, 2018
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 2017
28334938 (PubMed )
Supplement: awx045_Supp.zip › brain-2016-01749-File006.pdf
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