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
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
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.
Abuduxikuer K et al.
World Journal of Gastroenterology, 2018
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.
Sagi-Dain L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.
Sun Y et al.
Journal of Human Genetics, 2017
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G et al.
Science (new York, N.y.), 2014
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