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Page 1
Facial Hypomimia, Oculomotor Paralysis, and Ataxia Associated With GAD65 and Glycine Receptor Antibodies in a Child.
Ortiz de Zarate Caballero Z, Elosegi Castellanos A, García Ribes A, Martínez-González MJ, Felipe-Rucián A, Olivé-Cirera G, Armangue T. Ortiz de Zarate Caballero Z, et al. Among authors: felipe rucian a. Neurology. 2024 Dec 10;103(11):e210065. doi: 10.1212/WNL.0000000000210065. Epub 2024 Nov 12. Neurology. 2024. PMID: 39531605 No abstract available.
Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.
Turón-Viñas E, Boronat S, Gich I, González Álvarez V, García-Puig M, Camós Carreras M, Rodriguez-Palmero A, Felipe-Rucián A, Aznar-Laín G, Jiménez-Fàbrega X, Pérez de la Ossa N; Catalan Pediatric Stroke Study Group. Turón-Viñas E, et al. Among authors: felipe rucian a. Stroke. 2024 Sep;55(9):2240-2246. doi: 10.1161/STROKEAHA.124.046846. Epub 2024 Jul 25. Stroke. 2024. PMID: 39051112
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: felipe rucian a. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
EPITRANS. Quality assessment of the epilepsy transition process.
Ortiz de Zarate Z, Fonseca E, Abraira L, Santamarina E, Campos-Fernández D, Quintana M, Sánchez J, Goméz-Andrés D, Sala J, Raspall M, Felipe-Rucián A, Del Toro M, Macaya A, Toledo M. Ortiz de Zarate Z, et al. Among authors: felipe rucian a. Eur J Paediatr Neurol. 2024 Jan;48:121-128. doi: 10.1016/j.ejpn.2024.01.004. Epub 2024 Jan 12. Eur J Paediatr Neurol. 2024. PMID: 38241904
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E. Rovira-Remisa MM, et al. Among authors: felipe rucian a. Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6. Mol Genet Metab Rep. 2023. PMID: 36909454 Free PMC article.
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres C, Villena-Ortiz Y, Castillo-Ribelles L, Barquín-Del-Pino R, Camprodon-Gomez M, Felipe-Rucián A, Moreno-Martínez D, Lucas-Del-Pozo S, Hernández-Vara J, García-Serra A, Tigri-Santiña A, Moltó-Abad M, Agraz-Pamplona I, Rodriguez-Palomares JF, Limeres-Freire J, Macaya-Font M, Rodríguez-Sureda V, Miguel LD, Del-Toro-Riera M, Pintos-Morell G, Arranz-Amo JA. Carnicer-Cáceres C, et al. Among authors: felipe rucian a. Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5. Blood Cells Mol Dis. 2023. PMID: 36265282
Characteristic retinal atrophy pattern allows differentiation between pediatric MOGAD and MS after a single optic neuritis episode.
Pakeerathan T, Havla J, Schwake C, Salmen A, Bigi S, Abegg M, Brügger D, Ferrazzini T, Runge AK, Breu M, Kornek B, Bsteh G, Felipe-Rucián A, Ringelstein M, Aktas O, Karenfort M, Wendel E, Kleiter I, Hellwig K, Kümpfel T, Thiels C, Lücke T, Gold R, Rostasy K, Ayzenberg I. Pakeerathan T, et al. Among authors: felipe rucian a. J Neurol. 2022 Dec;269(12):6366-6376. doi: 10.1007/s00415-022-11256-y. Epub 2022 Jul 23. J Neurol. 2022. PMID: 35869995 Free PMC article.
19 results