Journal article
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Nicole J Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker-Kettern, Laura S Kremer, Angela Pyle, Jean-Francois Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Julia Baptista, Emma Baple, Matthew Wakeling, Sean Massey, Daniel P Kay, Anju Shukla, Katta M Girisha, Leslie ES Lewis Show all
Brain | OXFORD UNIV PRESS | Published : 2019
DOI: 10.1093/brain/awy310
Grants
Awarded by AFR-PhD grant
Awarded by CORE junior grant of the Fonds National de la Recherche Luxembourg
Awarded by German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET)
Awarded by German Bundesministerium fur Bildung und Forschung (BMBF) through the E-Rare project GENOMIT
Awarded by EU Horizon2020 Collaborative Research Project SOUND
Awarded by Instituto de Salud Carlos III
Awarded by Departamento de Ciencia, Tecnologia y Universidad del Gobierno de Aragon
Awarded by Wellcome Centre for Mitochondrial Research
Awarded by Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease and Mitochondrial Disease Patient Cohort (UK)
Funding Acknowledgements
We thank the Crane and Perkins families and the Lions International Club Esch-sur-Alzette for donations to this research. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. J.B.K. and N.P. were supported by an AFR-PhD grant (4044610) and a CORE junior grant (C16/BM/11339953), respectively, of the Fonds National de la Recherche Luxembourg. Sequencing, data analysis and Sanger validation of one sample (Case 1) were done in the Center for Applied Genomics at the Children's Hospital of Philadelphia through research funding from Aevi Genomic Medicine Inc. This study was partly supported by the German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET, 01GM1113 for H.P.) and through the E-Rare project GENOMIT (01GM1603 for H.P.). H.P. is supported by EU Horizon2020 Collaborative Research Project SOUND (633974). This work was supported by grants from Instituto de Salud Carlos III (PI17/00021); Departamento de Ciencia, Tecnologia y Universidad del Gobierno de Aragon (Grupos de Referencia B33_17R). R.W.T. is supported by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Medical Research Council (MRC) Centre for Translational Research in Neuromuscular Disease and Mitochondrial Disease Patient Cohort (UK) (G0800674), the Lily Foundation and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children. S.E. is a Wellcome Trust Senior Investigator.