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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Serrano M, et al. Among authors: velazquez r. Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y. Orphanet J Rare Dis. 2015. PMID: 26502900 Free PMC article.
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Among authors: velazquez r. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
[Moyamoya disease: follow-up of 12 patients].
Pascual-Castroviejo I, Pascual-Pascual SI, Velázquez R, Viaño J, Martínez V. Pascual-Castroviejo I, et al. Among authors: velazquez r. Neurologia. 2006 Dec;21(10):695-703. Neurologia. 2006. PMID: 17106822 Spanish.
168 results