Author:
Pérez-Dueñas Belén,Toma Claudio,Ormazábal Aida,Muchart Jordi,Sanmartí Francesc,Bombau Georgina,Serrano Mercedes,García-Cazorla Angels,Cormand Bru,Artuch Rafael
Subject
Genetics(clinical),Genetics
Reference23 articles.
1. Aicardi J, Arzimanoglou A, Guerrini R (2004) Myoclonic epilepsies associated with progressive degenerative disorders: progressive myoclonic epilepsies. In: Aicardi J, Arzimanoglou A, Guerrini R (eds) Aicardi’s epilepsy in children. Lippincott Williams & Wilkins, Philadelphia, pp 81–87
2. Blau N, Bonafé L, Krägeloh-Mann I et al (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype. Neurology 61:642–647
3. Cario H, Bode H, Debatin KM, Opladen T, Schwarz K (2009) Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology 73:2127–2129
4. Fariselli P, Casadio R (2001) Prediction of disulfide connectivity in proteins. Bioinformatics 17:957–964
5. Garcia-Cazorla A, Quadros EV, Nascimento A et al (2008) Mitochondrial diseases associated with cerebral folate deficiency. Neurology 70:1360–1362
Cited by
44 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献