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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Among authors: urtasun m. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Among authors: urtasun m. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.
Iruzubieta P, Campo-Caballero D, Equiza J, Albajar I, Sulibarría N, Sáez R, Andrés N, Mondragón E, Zulaica M, de Arce A, Urtasun M, López de Munain A. Iruzubieta P, et al. Among authors: urtasun m. J Stroke Cerebrovasc Dis. 2021 Dec;30(12):106130. doi: 10.1016/j.jstrokecerebrovasdis.2021.106130. Epub 2021 Sep 29. J Stroke Cerebrovasc Dis. 2021. PMID: 34597987
Management of an outbreak of botulism with benign clinical presentation.
Equiza J, Campo-Caballero D, Rodríguez-Antigüedad J, Iruzubieta P, Vinagre-Aragón A, Echeverria J, Imaz N, Alberdi T, López de Munain A, Urtasun M, Espinal JB. Equiza J, et al. Among authors: urtasun m. J Clin Neurosci. 2021 Jun;88:159-162. doi: 10.1016/j.jocn.2021.03.041. Epub 2021 Apr 13. J Clin Neurosci. 2021. PMID: 33992177
68 results