Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
Lydia Green, Yanick J. Crow(Institute of Genetics and Cancer), David H. Dockrell(NHS Lothian), Annarita Scardamaglia(Queen Mary University of London), Maha S. Zaki(National Water Research Center), Mark A. Tarnopolsky(McMaster University), Katrin Õunap(Tartu University Hospital), Almundher Al‐Maawali(Sultan Qaboos University Hospital), Mina Zamani(Shahid Chamran University of Ahvaz), Stéphanie Efthymiou(Queen Mary University of London), Khalid Al‐Thihli(Sultan Qaboos University Hospital), Stephan Züchner(University of Miami), Andrew G. L. Douglas(Oxford University Hospitals NHS Trust), Colin A. Johnson(University of Leeds), Kristian Tveten(Telemark Hospital), Daniel G. Calame, Kristen Fisher(Baylor College of Medicine), Prab Prabhakar(Great Ormond Street Hospital), Saeid Sadeghian(Ahvaz Jundishapur University of Medical Sciences), Tahere Seifi(Shahid Chamran University of Ahvaz), Eamonn Sheridan(St James's University Hospital), Erum Afzal(National Institute of Child Health), Stephen A. Renshaw(University of Sheffield), Marilena Elpidorou, Elizabeth C. Low, Clément Prouteau(Northwestern University), Ailsa M.S. Rose, Sarah A. Harris, Lauren Brady(McMaster Children's Hospital), Marine Tessarech(Centre National de la Recherche Scientifique), Céline Bris(Université d'Angers), Noémie Hamilton, Hamid Galehdari(Shahid Chamran University of Ahvaz), Gillian Rice(Manchester Academic Health Science Centre), Daniel Warren, Geoffrey Wells, Carla Roca-Bayerri, Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Henry Houlden(Queen Mary University of London), Emma Wakeling(Northwick Park Hospital), Reza Maroofian(University College London), Inger Sandvig, Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Stone Elworthy, Amna Al‐Futaisi(Sultan Qaboos University Hospital), John H. Livingston(Montreal Neurological Institute and Hospital), Mario Sa, Erica Harris(University of Leeds), Sana Al‐Zuhaibi(Sultan Qaboos University Hospital), Iván K. Chinn(Baylor College of Medicine)
Cited by 0
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
|Nature Genetics|2006|673
Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism
|Biochemical Journal|2004|626
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
|Genetics in Medicine|2014|605
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
|Nature Reviews Endocrinology|2018|596