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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: aznar lain g. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: aznar lain g. Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29. Eur J Hum Genet. 2024. PMID: 38282074 Free PMC article.
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: aznar lain g. Eur J Hum Genet. 2024 Mar;32(3):366. doi: 10.1038/s41431-024-01561-7. Eur J Hum Genet. 2024. PMID: 38355964 Free PMC article. No abstract available.
CDKL5 Deficiency Disorder Without Epilepsy.
Aznar-Laín G, Fernández-Mayoralas DM, Caicoya AG, Rocamora R, Pérez-Jurado LA. Aznar-Laín G, et al. Pediatr Neurol. 2023 Jul;144:84-89. doi: 10.1016/j.pediatrneurol.2023.04.015. Epub 2023 Apr 26. Pediatr Neurol. 2023. PMID: 37201242
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
Armangue T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González-Álvarez V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J; Spanish Pediatric anti-MOG Study Group. Armangue T, et al. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Lancet Neurol. 2020. PMID: 32057303
Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis.
Armangue T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J; Spanish Herpes Simplex Encephalitis Study Group. Armangue T, et al. Lancet Neurol. 2018 Sep;17(9):760-772. doi: 10.1016/S1474-4422(18)30244-8. Epub 2018 Jul 23. Lancet Neurol. 2018. PMID: 30049614 Free PMC article.
Post-ictal atrial fibrillation detected during video-EEG monitoring: Case report, proposed physiopathologic mechanism and therapeutic considerations.
Sanchez-Larsen A, Aznar-Lain G, Benito B, Principe A, Ley M, Tauste Campo A, Rocamora R. Sanchez-Larsen A, et al. Among authors: aznar lain g. Epilepsy Behav Case Rep. 2017 Jul 6;8:40-43. doi: 10.1016/j.ebcr.2017.06.005. eCollection 2017. Epilepsy Behav Case Rep. 2017. PMID: 28856096 Free PMC article. No abstract available.
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Among authors: aznar lain g. Mutat Res. 2016 Feb-Mar;784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6. Mutat Res. 2016. PMID: 26845707
18 results