Novel mutations in <i><scp>KARS</scp></i> cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
Daniela Verrigni(Bambino Gesù Children's Hospital), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Alessandra D’Amico(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Michela Di Nottia(Bambino Gesù Children's Hospital), Alessandra Torraco(Bambino Gesù Children's Hospital), Emanuele Bellacchio(Istituti di Ricovero e Cura a Carattere Scientifico), Enrico Bertini(Bambino Gesù Children's Hospital), Teresa Rizza(Azienda Unita' Sanitaria Locale Di Modena), Giulia Tozzi(Institute for Neurodegenerative Disorders), Giorgio Tasca(Agostino Gemelli University Polyclinic), Daria Diodato(Bambino Gesù Children's Hospital), Margherita Verardo(Institute for Neurodegenerative Disorders), Fiorella Piemonte(Institute for Neurodegenerative Disorders)
Cited by 37
Related Papers
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
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
|Human Molecular Genetics|2005|446