NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Bergen NJ Van; Yiran Guo; Julia Rankin; Nicole Paczia; Julia Becker-Kettern; Laura S. Kremer; Angela Pyle; Jean François Conrotte; Carolyn Ellaway; Peter Procopis; Kristina Prelog; Tessa Homfray; Júlia Baptista; Emma Baple; Matthew Wakeling; Sean Massey; Daniel P. Kay; Anju Shukla; Katta M. Girisha; Leslie E.S. Lewis; Saikat Santra; Rachel Power; Piers Daubeney; Julio Montoya; Eduardo Ruiz-Pesini; Reka Kovacs-Nagy; Martin Pritsch; Uwe Ahting; David R. Thorburn; Holger Prokisch; Robert W. Taylor; John Christodoulou; Carole L. Linster; Sian Ellard; Hakon Hakonarson

doi:10.1093/brain/awy310

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Bergen NJ Van
, Yiran Guo
, Julia Rankin
, Nicole Paczia
, Julia Becker-Kettern
, Laura S. Kremer
, Angela Pyle
, Jean François Conrotte
, Carolyn Ellaway
, Peter Procopis
, Kristina Prelog
, Tessa Homfray
, Júlia Baptista
, Emma Baple
, Matthew Wakeling
, Sean Massey
, Daniel P. Kay
, Anju Shukla
, Katta M. Girisha
, Leslie E.S. Lewis

Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz-Pesini, Reka Kovacs-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou^*, Carole L. Linster, Sian Ellard, Hakon Hakonarson

^*Corresponding author for this work

Peninsula Medical School

University of Pennsylvania
Royal Devon & Exeter NHS Foundation Trust
University of Exeter
University of Luxembourg
Helmholtz Zentrum München - German Research Center for Environmental Health
Technical University of Munich
Newcastle University
The Children's Hospital at Westmead
University of Sydney
St George's Hospital
Royal Children's Hospital, Melbourne
Manipal Academy of Higher Education
Birmingham Women's and Children's NHS Foundation Trust
Royal Brompton Hospital
Imperial College London
University of Zaragoza
Semmelweis University
DRK-Childrens-Hospital
University of Melbourne

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	50-58
Number of pages	0
Journal	Brain
Volume	142
Issue number	1
Early online date	20 Dec 2018
DOIs	https://doi.org/10.1093/brain/awy310
Publication status	Published - 1 Jan 2019

Access to Document

10.1093/brain/awy310

Cite this

Van, B. NJ., Guo, Y., Rankin, J., Paczia, N., Becker-Kettern, J., Kremer, L. S., Pyle, A., Conrotte, J. F., Ellaway, C., Procopis, P., Prelog, K., Homfray, T., Baptista, J., Baple, E., Wakeling, M., Massey, S., Kay, D. P., Shukla, A., Girisha, K. M., ... Hakonarson, H. (2019). NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain, 142(1), 50-58. https://doi.org/10.1093/brain/awy310

@article{aeb29870558c4fa39eac1639a70d76ae,

title = "NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses",

author = "Van, \{Bergen NJ\} and Yiran Guo and Julia Rankin and Nicole Paczia and Julia Becker-Kettern and Kremer, \{Laura S.\} and Angela Pyle and Conrotte, \{Jean Fran{\c c}ois\} and Carolyn Ellaway and Peter Procopis and Kristina Prelog and Tessa Homfray and J{\'u}lia Baptista and Emma Baple and Matthew Wakeling and Sean Massey and Kay, \{Daniel P.\} and Anju Shukla and Girisha, \{Katta M.\} and Lewis, \{Leslie E.S.\} and Saikat Santra and Rachel Power and Piers Daubeney and Julio Montoya and Eduardo Ruiz-Pesini and Reka Kovacs-Nagy and Martin Pritsch and Uwe Ahting and Thorburn, \{David R.\} and Holger Prokisch and Taylor, \{Robert W.\} and John Christodoulou and Linster, \{Carole L.\} and Sian Ellard and Hakon Hakonarson",

year = "2019",

month = jan,

day = "1",

doi = "10.1093/brain/awy310",

language = "English",

volume = "142",

pages = "50--58",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "1",

}

Van, BNJ, Guo, Y, Rankin, J, Paczia, N, Becker-Kettern, J, Kremer, LS, Pyle, A, Conrotte, JF, Ellaway, C, Procopis, P, Prelog, K, Homfray, T, Baptista, J, Baple, E, Wakeling, M, Massey, S, Kay, DP, Shukla, A, Girisha, KM, Lewis, LES, Santra, S, Power, R, Daubeney, P, Montoya, J, Ruiz-Pesini, E, Kovacs-Nagy, R, Pritsch, M, Ahting, U, Thorburn, DR, Prokisch, H, Taylor, RW, Christodoulou, J, Linster, CL, Ellard, S & Hakonarson, H 2019, 'NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses', Brain, vol. 142, no. 1, pp. 50-58. https://doi.org/10.1093/brain/awy310

TY - JOUR

T1 - NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

AU - Van, Bergen NJ

AU - Guo, Yiran

AU - Rankin, Julia

AU - Paczia, Nicole

AU - Becker-Kettern, Julia

AU - Kremer, Laura S.

AU - Pyle, Angela

AU - Conrotte, Jean François

AU - Ellaway, Carolyn

AU - Procopis, Peter

AU - Prelog, Kristina

AU - Homfray, Tessa

AU - Baptista, Júlia

AU - Baple, Emma

AU - Wakeling, Matthew

AU - Massey, Sean

AU - Kay, Daniel P.

AU - Shukla, Anju

AU - Girisha, Katta M.

AU - Lewis, Leslie E.S.

AU - Santra, Saikat

AU - Power, Rachel

AU - Daubeney, Piers

AU - Montoya, Julio

AU - Ruiz-Pesini, Eduardo

AU - Kovacs-Nagy, Reka

AU - Pritsch, Martin

AU - Ahting, Uwe

AU - Thorburn, David R.

AU - Prokisch, Holger

AU - Taylor, Robert W.

AU - Christodoulou, John

AU - Linster, Carole L.

AU - Ellard, Sian

AU - Hakonarson, Hakon

PY - 2019/1/1

Y1 - 2019/1/1

U2 - 10.1093/brain/awy310

DO - 10.1093/brain/awy310

M3 - Article

SN - 0006-8950

VL - 142

SP - 50

EP - 58

JO - Brain

JF - Brain

IS - 1

ER -