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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Neuropediatrics. 2018.
PMID: 30304743
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. Among authors: itzep dc.
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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Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, Ramirez A, Aparicio J, Domínguez-Carral J, Carrera-García L, Expósito-Escudero J, Pardo Cardozo N, Cuadras D, Codina A, Jou C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento A, San Antonio-Arce V.
Natera-de Benito D, et al. Among authors: itzep d.
Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8.
Epilepsia. 2020.
PMID: 32266982
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