Bi‐allelic <i>KARS1</i> pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Nicola Brunetti‐Pierri(Federico II University Hospital), Adeline Vanderver(Children's Hospital of Philadelphia), Silvia Maitz(Azienda Ospedaliera San Gerardo), Camilla Ceccatelli Berti(University of Parma), Alessandra D’Amico(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Vincenzo Nigro(University of Campania "Luigi Vanvitelli"), Cesar Alves(Boston Children's Hospital), Daniela Longo(Bambino Gesù Children's Hospital), Francesco Canonico(University of Milano-Bicocca), Siren Berland(Haukeland University Hospital), Andreas Benneche(Haukeland University Hospital), Enrico Bertini(Bambino Gesù Children's Hospital), Tara H. Stamper(Wake Forest University), Felice D’Arco(Great Ormond Street Hospital for Children NHS Foundation Trust), Jennifer A. Sullivan(Duke Medical Center), Marjo S. van der Knaap(Amsterdam Neuroscience), Vimla S. Aggarwal(Columbia University Irving Medical Center), Enrico Baruffini(University of Parma), P Goffrini(University of Parma), Vandana Shashi(University of Virginia Medical Center), Tamison Jewett(Wake Forest University), Annalaura Torella(University of Campania "Luigi Vanvitelli"), Anya Revah‐Politi(A&G Pharmaceutical (United States)), Kwame Anyane‐Yeboa(Columbia University Irving Medical Center), Eirik Bratland(Haukeland University Hospital), Gabriel S. Kupchik(Maimonides Medical Center)
Cited by 18
Related Papers
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
|New England Journal of Medicine|2012|1.4k
Discovery of drug mode of action and drug repositioning from transcriptional responses
|Proceedings of the National Academy of Sciences|2010|853
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
|Nature Genetics|2006|673
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
|Neuromuscular Disorders|2019|636
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
|The American Journal of Human Genetics|2007|449