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A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Salpietro V, Perez-Dueñas B, Nakashima K, San Antonio-Arce V, Manole A, Efthymiou S, Vandrovcova J, Bettencourt C, Mencacci NE, Klein C, Kelly MP, Davies CH, Kimura H, Macaya A, Houlden H. Salpietro V, et al. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2. Mov Disord. 2018. PMID: 29392776 Free PMC article.
[Leukoencephalopathy with vanishing white matter: A case report].
San Antonio-Arce V, Martín Fernández-Mayoralas D, Muñoz-Jareño N, Fresneda-Machado C, Sáiz-Ayala A, Campos-Castelló J. San Antonio-Arce V, et al. Rev Neurol. 2006 Nov 1-15;43(9):535-40. Rev Neurol. 2006. PMID: 17072809 Free article. Spanish.
[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)].
García-Pérez A, Martínez-Granero MA, Verdú-Pérez A, de Castro-De Castro P, Garzo-Fernández C, Vázquez-López M, Martínez-Bermejo A, Simón-De las Heras R, Martínez-Menéndez B, San Antonio-Arce V, de Santos-Moreno MT, Carrasco-Marina ML, Cazorla-Calleja MR. García-Pérez A, et al. Rev Neurol. 2009 Jan 16-31;48(2):58-60. Rev Neurol. 2009. PMID: 19173201 Free article. Spanish.
[Complex regional pain syndrome and myoclonus: an uncommon combination].
Alvarez Fuente M, Aleo Luján E, Cascón Criado E, Galindo Doncel G, San Antonio Arce V. Alvarez Fuente M, et al. An Pediatr (Barc). 2012 Jan;76(1):38-40. doi: 10.1016/j.anpedi.2011.03.023. Epub 2011 Oct 20. An Pediatr (Barc). 2012. PMID: 22015053 Free article. Spanish.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou A, Armstrong J, Palau F, Hoenicka J, San Antonio-Arce V. Martinez-Esteve Melnikova A, et al. Among authors: san antonio arce v. Eur J Med Genet. 2022 Mar;65(3):104442. doi: 10.1016/j.ejmg.2022.104442. Epub 2022 Jan 28. Eur J Med Genet. 2022. PMID: 35093607 Review.
Genetic testing before epilepsy surgery - An exploratory survey and case collection from German epilepsy centers.
Boßelmann CM, San Antonio-Arce V, Schulze-Bonhage A, Fauser S, Zacher P, Mayer T, Aparicio J, Albers K, Cloppenborg T, Kunz W, Surges R, Syrbe S, Weber Y, Wolking S. Boßelmann CM, et al. Among authors: san antonio arce v. Seizure. 2022 Feb;95:4-10. doi: 10.1016/j.seizure.2021.12.004. Epub 2021 Dec 17. Seizure. 2022. PMID: 34953286 Free article.
35 results