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Page 1
Vanishing white matter disease in a spanish population.
Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J. Turón-Viñas E, et al. Among authors: armstrong moron j. J Cent Nerv Syst Dis. 2014 Jul 13;6:59-68. doi: 10.4137/JCNSD.S13540. eCollection 2014. J Cent Nerv Syst Dis. 2014. PMID: 25089094 Free PMC article. Review.
Reflex seizures in Rett syndrome.
Roche Martínez A, Alonso Colmenero MI, Gomes Pereira A, Sanmartí Vilaplana FX, Armstrong Morón J, Pineda Marfa M. Roche Martínez A, et al. Among authors: armstrong moron j. Epileptic Disord. 2011 Dec;13(4):389-93. doi: 10.1684/epd.2011.0475. Epileptic Disord. 2011. PMID: 22258043 Free article.
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, García-Cazorla À, Juliá-Palacios N, Morales-Ballús M. Del-Prado-Sánchez C, et al. Among authors: armstrong moron j. Ophthalmic Genet. 2020 Dec;41(6):656-658. doi: 10.1080/13816810.2020.1821382. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940098
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: armstrong moron j. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group. Cortès-Saladelafont E, et al. Among authors: armstrong moron j. Dev Med Child Neurol. 2018 Aug;60(8):780-792. doi: 10.1111/dmcn.13746. Epub 2018 Mar 25. Dev Med Child Neurol. 2018. PMID: 29577258 Free article.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML. Barbosa-Gouveia S, et al. Among authors: armstrong moron j. Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484. Int J Mol Sci. 2021. PMID: 34948281 Free PMC article.