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
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis.
Hadchouel A et al.
The European Respiratory Journal, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable7._Rec_CADD20
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.
La Fay C et al.
European Journal of Medical Genetics, 2021
Alveolar proteinosis of genetic origins.
Hadchouel A et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2020
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
Mutations in MARS identified in a specific type of pulmonary alveolar proteinosis alter methionyl-tRNA synthetase activity.
Comisso M et al.
The Febs Journal, 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
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel A et al.
American Journal of Human Genetics, 2015
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