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
Aminoacyl-tRNA synthetase defects in neurological diseases.
Zhang H et al.
Iubmb Life, 2025
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
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E et al.
Human Molecular Genetics, 2021
Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.
Lasheras-Pérez MA et al.
Pediatric Dermatology, 0
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