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Page 1
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernández D, Vázquez-Costa JF, Domínguez-Rubio R, Expósito-Blázquez L, Aller E, Padró-Miquel A, García-Casanova P, Colomina MJ, Martín-Arriscado C, Osta R, Cordero-Vázquez P, Esteban-Pérez J, Povedano-Panadés M, García-Redondo A. Borrego-Hernández D, et al. Among authors: vazquez costa jf. Biomedicines. 2024 Feb 2;12(2):356. doi: 10.3390/biomedicines12020356. Biomedicines. 2024. PMID: 38397958 Free PMC article.
Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.
Rebollo P, García-López S, Povedano M, Cattinari MG, Martínez-Moreno M, Terrancle Á, Cabello-Moruno R, Vázquez-Costa JF. Rebollo P, et al. Among authors: vazquez costa jf. Neurol Ther. 2024 Feb;13(1):233-249. doi: 10.1007/s40120-023-00571-9. Epub 2024 Jan 5. Neurol Ther. 2024. PMID: 38180726 Free PMC article.
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: vazquez costa jf. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316.
Vázquez-Costa JF. Vázquez-Costa JF. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):214-215. doi: 10.1080/21678421.2023.2248199. Epub 2023 Aug 30. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37647208 No abstract available.
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Santiago RF, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Ceberio JI, Pastor P, Paradas C, Dols-Icardo O; Spanish Neurological Consortium; Traynor BJ, Feldman EL, Goutman SA. Dou J, et al. Among authors: vazquez costa jf. Neurol Genet. 2023 Jul 25;9(5):e200095. doi: 10.1212/NXG.0000000000200095. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37521204 Free PMC article.
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA; Spanish Neurological Consortium. Dou J, et al. Among authors: vazquez costa jf. Neurol Genet. 2023 May 31;9(4):e200079. doi: 10.1212/NXG.0000000000200079. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37293291 Free PMC article.
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022.
Walter MC, Laforêt P, van der Pol WL, Pegoraro E; 254th ENMC Workshop Study Group. Walter MC, et al. Neuromuscul Disord. 2023 Jun;33(6):511-522. doi: 10.1016/j.nmd.2023.03.011. Epub 2023 Mar 29. Neuromuscul Disord. 2023. PMID: 37245491 No abstract available.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: vazquez costa jf. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
68 results