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A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).
Ruiz-Antoran B, Sancho-López A, Cazorla-Calleja R, López-Pájaro LF, Leiva Á, Iglesias-Escalera G, Marín-Serrano ME, Rincón-Ortega M, Lara-Herguedas J, Rossignoli-Palomeque T, Valiente-Rodríguez S, González-Marques J, Román-Riechmann E, Avendaño-Solá C. Ruiz-Antoran B, et al. Among authors: lara herguedas j. Orphanet J Rare Dis. 2018 Aug 20;13(1):144. doi: 10.1186/s13023-018-0891-6. Orphanet J Rare Dis. 2018. PMID: 30126448 Free PMC article. Clinical Trial.
[Descriptive analysis of the electroencephalogram in Angelman syndrome].
López-Pájaro LF, Ruiz-Antorán B, Marín-Serrano E, Cazorla-Calleja R, Iglesias-Escalera G, Lara-Herguedas J, García-Merino JA, Avendaño-Solá C, Sancho-López A. López-Pájaro LF, et al. Among authors: lara herguedas j. Rev Neurol. 2021 Jan 16;72(2):51-60. doi: 10.33588/rn.7202.2020548. Rev Neurol. 2021. PMID: 33438195 Free article. Spanish.
[Angelman syndrome in adulthood].
Lorenzo-Ruiz M, Novo-Ponte S, Iglesias-Escalera G, Cazorla-Calleja R, Lara-Herguedas J, López-Pájaro LF, Ruiz-Antorán B. Lorenzo-Ruiz M, et al. Among authors: lara herguedas j. Rev Neurol. 2023 Apr 1;76(7):217-226. doi: 10.33588/rn.7607.2022235. Rev Neurol. 2023. PMID: 36973885 Free PMC article. Spanish.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Among authors: lara herguedas j. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930