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[Three cases of Pallister-Killian syndrome].
Rev Neurol. 2014 Jan 16;58(2):63-8.
Rev Neurol. 2014.
PMID: 24399622
Free article.
Spanish.
[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].
Florido-Rodriguez A, Eiris-Punal J, Barros-Angueira F, Toledo-Bravo de Laguna L, Santana-Artiles A, Sebastian-Garcia I, Santana-Rodriguez A, Cabrera-Lopez JC.
Florido-Rodriguez A, et al. Among authors: sebastian garcia i.
Rev Neurol. 2016 Oct 1;63(7):309-14.
Rev Neurol. 2016.
PMID: 27658362
Free article.
Spanish.
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[Familial hemiplegic migraine type 2: two paediatric case reports].
Toledo-Bravo de Laguna L, Santana-Rodríguez A, Cabrera-López JC, Santana-Artiles A, Sebastián-García I.
Toledo-Bravo de Laguna L, et al. Among authors: sebastian garcia i.
Rev Neurol. 2012 Feb 16;54(4):222-6.
Rev Neurol. 2012.
PMID: 22314763
Free article.
Spanish.
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[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].
Muñoz A, Cabrera-López JC, Santana-Rodríguez A, Toledo-Bravo de Laguna L, Santana-Artiles A, Sebastián-García I.
Muñoz A, et al. Among authors: sebastian garcia i.
Rev Neurol. 2016 Mar 1;62(5):218-22.
Rev Neurol. 2016.
PMID: 26916325
Free article.
Spanish.
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Cytokine distribution in mothers and breastfed children after omega-3 LCPUFAs supplementation during the last trimester of pregnancy and the lactation period: A randomized, controlled trial.
Rodriguez-Santana Y, Ochoa JJ, Lara-Villoslada F, Kajarabille N, Saavedra-Santana P, Hurtado JA, Peña M, Diaz-Castro J, Sebastian-Garcia I, Machin-Martin E, Villanueva M, Ramirez-Garcia O, Peña-Quintana L.
Rodriguez-Santana Y, et al. Among authors: sebastian garcia i.
Prostaglandins Leukot Essent Fatty Acids. 2017 Nov;126:32-38. doi: 10.1016/j.plefa.2017.09.006. Epub 2017 Sep 19.
Prostaglandins Leukot Essent Fatty Acids. 2017.
PMID: 29031393
Clinical Trial.
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium.
Martínez-Monseny AF, et al.
Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22.
Ann Neurol. 2019.
PMID: 30873657
Clinical Trial.
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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium.
Martinez-Monseny A, et al.
J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
J Med Genet. 2019.
PMID: 30464053
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium.
Itzep D, et al.
Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Neuropediatrics. 2018.
PMID: 30304743
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