NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Nicole J. Van Bergen(Royal Children's Hospital), Håkon Håkonarson(Children's Hospital of Philadelphia), Yiran Guo(Children's Hospital of Philadelphia), Katta M. Girisha(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), Rachel Power(Royal Brompton Hospital), Carolyn Ellaway(Children's Hospital at Westmead), Sean Massey(Royal Children's Hospital), Tessa Homfray(University of London), Julia Becker‐Kettern(University of Luxembourg), Laura S. Kremer(Helmholtz Zentrum München), Martin Pritsch(University of Siegen), Matthew N. Wakeling(University of Exeter), Julio Montoya(Universidad de Zaragoza), Angela Pyle(Wellcome Centre for Mitochondrial Research), Jean‐François Conrotte(University of Luxembourg), John Christodoulou(Children's Hospital at Westmead), Carole L. Linster(University of Luxembourg), David R. Thorburn(Royal Children's Hospital), Holger Prokisch(Helmholtz Zentrum München), Saikat Santra(Birmingham Women’s and Children’s NHS Foundation Trust), Uwe Ahting(Technical University of Munich), Júlia Baptista(University of Exeter), Réka Kovács-Nagy(Semmelweis University), Piers Daubeney(Royal Brompton Hospital), Sian Ellard(University of Exeter), Kristina Prelog(Children's Hospital at Westmead), Nicole Paczia(University of Luxembourg), Eduardo Ruiz‐Pesini(Universidad de Zaragoza), Emma L. Baple(University of Exeter), Robert W. Taylor(Royal Victoria Infirmary), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), Leslie Lewis(Manipal Academy of Higher Education), Peter Procopis(The University of Sydney), Daniel P. Kay(University of Luxembourg)
Cited by 71
Related Papers
Mitochondrial diseases
|Nature Reviews Disease Primers|2016|1.5k
The diploid genome sequence of an Asian individual
|Nature|2008|960