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

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

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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 -