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Page 1
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Sivera Mascaró R, García Sobrino T, Horga Hernández A, Pelayo Negro AL, Alonso Jiménez A, Antelo Pose A, Calabria Gallego MD, Casasnovas C, Cemillán Fernández CA, Esteban Pérez J, Fenollar Cortés M, Frasquet Carrera M, Gallano Petit MP, Giménez Muñoz A, Gutiérrez Gutiérrez G, Gutiérrez Martínez A, Juntas Morales R, Ciano-Petersen NL, Martínez Ulloa PL, Mederer Hengstl S, Millet Sancho E, Navacerrada Barrero FJ, Navarrete Faubel FE, Pardo Fernández J, Pascual Pascual SI, Pérez Lucas J, Pino Mínguez J, Rabasa Pérez M, Sánchez González M, Sotoca J, Rodríguez Santiago B, Rojas García R, Turon-Sans J, Vicent Carsí V, Sevilla Mantecón T. Sivera Mascaró R, et al. Among authors: rodriguez santiago b. Neurologia (Engl Ed). 2024 Mar 1:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008. Online ahead of print. Neurologia (Engl Ed). 2024. PMID: 38431252 Free article.
Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report.
Collet-Vidiella R, Olmedo-Saura G, Ruiz-Barrio I, Martínez-Viguera A, Rodriguez-Santiago B, Bernal S, Kulisevsky J, Pagonabarraga J. Collet-Vidiella R, et al. Among authors: rodriguez santiago b. Mov Disord Clin Pract. 2023 Jun 21;10(8):1211-1214. doi: 10.1002/mdc3.13811. eCollection 2023 Aug. Mov Disord Clin Pract. 2023. PMID: 37635772 No abstract available.
Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.
Sierra-Marcos A, Ribosa-Nogué R, Vidal-Robau N, Aldecoa I, Turón E, Rodríguez-Santiago B, Turón M, Boronat S, Molina-Porcel L. Sierra-Marcos A, et al. Among authors: rodriguez santiago b. Epilepsy Res. 2024 Jan;199:107266. doi: 10.1016/j.eplepsyres.2023.107266. Epub 2023 Dec 2. Epilepsy Res. 2024. PMID: 38061235
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: rodriguez santiago b. Ann Clin Transl Neurol. 2024 May 15. doi: 10.1002/acn3.52079. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients.
Riera P, Rodríguez-Santiago B, Lasa A, Gonzalez-Quereda L, Martín B, Salazar J, Sebio A, Virgili AC, Minguillón J, Camps C, Surrallés J, Páez D. Riera P, et al. Among authors: rodriguez santiago b. Cancers (Basel). 2020 Aug 11;12(8):2245. doi: 10.3390/cancers12082245. Cancers (Basel). 2020. PMID: 32796636 Free PMC article.
57 results