NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J. Van Bergen, Håkon Håkonarson, Julia Becker‐Kettern et al.|Brain|2018Cited by 71
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Tobias B. Haack, Bader Alhaddad et al.|The American Journal of Human Genetics|2018Cited by 61