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Page 1
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: macaya a. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
Herpes simplex virus encephalitis is a trigger of brain autoimmunity.
Armangue T, Leypoldt F, Málaga I, Raspall-Chaure M, Marti I, Nichter C, Pugh J, Vicente-Rasoamalala M, Lafuente-Hidalgo M, Macaya A, Ke M, Titulaer MJ, Höftberger R, Sheriff H, Glaser C, Dalmau J. Armangue T, et al. Among authors: macaya a. Ann Neurol. 2014 Feb;75(2):317-23. doi: 10.1002/ana.24083. Epub 2014 Feb 25. Ann Neurol. 2014. PMID: 24318406 Free PMC article.
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM. Bahamonde MI, et al. Among authors: macaya a. PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015. PLoS One. 2015. PMID: 26716990 Free PMC article.
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
Marcé-Grau A, Correa M, Vanegas MI, Muñoz-Ruiz T, Ferrer-Aparicio S, Baide H, Macaya A, Pérez-Dueñas B. Marcé-Grau A, et al. Among authors: macaya a. Parkinsonism Relat Disord. 2019 Apr;61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8. Parkinsonism Relat Disord. 2019. PMID: 30642807 No abstract available.
201 results