RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levelsJuliane Müller(University of Cambridge), Rita Horváth(Wellcome Centre for Mitochondrial Research)Life Science AllianceJune 11, 202010.26508/lsa.202000678Cited by 29SaveCiteExport RISWatch citationsRelated PapersMulti-system neurological disease is common in patients with OPA1 mutations|Brain|2010|446The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene|Brain|2007|319Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study|Brain|2020|91Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients|Annals of Neurology|2020|77Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia|Brain|2021|51