Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG70
[A case of interstitial lung and liver disease caused by MARS1 gene mutation].
Peng WJ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
Castaldo A et al.
Erj Open Research, 2023
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Lenz D et al.
Pediatric Pulmonology, 2020
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