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Page 1
[Miller-Dieker syndrome].
Iglesias Escalera G, Carrasco Marina ML, Martín Del Valle F, Martínez Guardia N, Rodríguez L, Martínez-Fernández ML. Iglesias Escalera G, et al. Among authors: carrasco marina ml. An Pediatr (Barc). 2009 Mar;70(3):304-6. doi: 10.1016/j.anpedi.2008.11.003. Epub 2009 Feb 7. An Pediatr (Barc). 2009. PMID: 19409251 Free article. Spanish. No abstract available.
[A vertebral arteriovenous fistula diagnosed by auscultation].
Iglesias Escalera G, Diaz-Delgado Peñas R, Carrasco Marina ML, Maraña Perez A, Ialeggio D. Iglesias Escalera G, et al. Among authors: carrasco marina ml. An Pediatr (Barc). 2015 Jan;82(1):e98-e101. doi: 10.1016/j.anpedi.2013.12.011. Epub 2014 Mar 2. An Pediatr (Barc). 2015. PMID: 24598790 Free article. Spanish.
[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].
Garcia-Ezquiaga J, Carrasco-Marina ML, Gutierrez-Cruz N, Iglesias-Escalera G, Castro-Reguera M, Perez-Gonzalez B. Garcia-Ezquiaga J, et al. Among authors: carrasco marina ml. Rev Neurol. 2019 Oct 1;69(7):303-304. doi: 10.33588/rn.6907.2019084. Rev Neurol. 2019. PMID: 31559630 Free article. Spanish.
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.
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
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.
Izquierdo-Serra M, Martínez-Monseny AF, López L, Carrillo-García J, Edo A, Ortigoza-Escobar JD, García Ó, Cancho-Candela R, Carrasco-Marina ML, Gutiérrez-Solana LG, Cuadras D, Muchart J, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Macaya A, Fernández-Fernández JM, Serrano M. Izquierdo-Serra M, et al. Among authors: carrasco marina ml. Int J Mol Sci. 2018 Feb 22;19(2):619. doi: 10.3390/ijms19020619. Int J Mol Sci. 2018. PMID: 29470411 Free PMC article.
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium. de Diego V, et al. J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. J Inherit Metab Dis. 2017. PMID: 28600669 No abstract available.
15 results