Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai(Massachusetts Eye and Ear Infirmary), Massimo Zeviani(IRCCS Materno Infantile Burlo Garofolo), Tobias B. Haack(Technical University of Munich), Mustafa A. Salih(King Saud University), Vassiliki Konstantopoulou(Medical University of Vienna), Satish Srinivasan(National Institute of Allergy and Infectious Diseases), Christopher Raab(DuPont (United States)), Martina Huemer(University Children's Hospital Zurich), Claire A. Sheldon(Children's Hospital of Philadelphia), Laura S. Kremer(Helmholtz Zentrum München), Wolfgang Sperl(Paracelsus Medical University), Eric A. Pierce(Broad Institute), Costanza Lamperti(West Virginia University), Mark Consugar(Massachusetts Eye and Ear Infirmary), Marni J. Falk(Children's Hospital of Philadelphia), Holger Prokisch(Helmholtz Zentrum München), Neal Sondheimer(Hospital for Sick Children), Matteo Gorza(Helmholtz Munich), Peter Freisinger(TUM Klinikum), Thomas Wieland(Mannheim Centre for European Social Research), Daniele Ghezzi(University of Milan), Hanan E. Shamseldin(King Faisal Specialist Hospital & Research Centre), Francesca Furlan(Azienda Ospedale - Università Padova), Johannes A. Mayr(Paracelsus Medical University), Caroline Biagosch(Helmholtz Zentrum München), Julian Ostrovsky(Children's Hospital of Philadelphia), Sara Vidoni(Harvard University), Emily Place(MACOM (United States)), Rossella Parini(MRC Epidemiology Unit), Fowzan S. Alkuraya(Alfaisal University), Tim M. Strom(Technical University of Munich), Mai Tsukikawa(Children's Hospital of Philadelphia), Aurelio Reyes(MRC Mitochondrial Biology Unit), Mark Johnson(University of Cambridge), Charles Bean(DuPont (United States)), Alan J. Robinson(University of Hertfordshire), Erzsébet Polyák(Children's Hospital of Philadelphia), Emtethal Al-Jishi(Salmaniya Medical Complex), Lee-Jun Wong(Baylor College of Medicine), Thomas Meitinger(Helmholtz Zentrum München)
Cited by 181
Related Papers
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
|New England Journal of Medicine|2008|2.1k
Database resources of the National Center for Biotechnology Information
|Nucleic Acids Research|2017|1.6k
Mitochondrial diseases
|Nature Reviews Disease Primers|2016|1.5k
Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins.
|Proceedings of the National Academy of Sciences|1995|1.3k