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103 results

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Page 1
Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation.
Quelle-Regaldie A, Gandoy-Fieiras N, Rodríguez-Villamayor P, Maceiras S, Losada AP, Folgueira M, Cabezas-Sáinz P, Barreiro-Iglesias A, Villar-López M, Quiroga-Berdeal MI, Sánchez L, Sobrido MJ. Quelle-Regaldie A, et al. Among authors: sobrido mj. Front Mol Neurosci. 2023 Mar 17;16:1078634. doi: 10.3389/fnmol.2023.1078634. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37008782 Free PMC article.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: sobrido mj. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.
Navas-Sánchez FJ, Marcos-Vidal L, de Blas DM, Fernández-Pena A, Alemán-Gómez Y, Guzmán-de-Villoria JA, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2022 Jun;269(6):3189-3203. doi: 10.1007/s00415-021-10933-8. Epub 2022 Jan 9. J Neurol. 2022. PMID: 34999956
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4).
Navas-Sánchez FJ, Martín De Blas D, Fernández-Pena A, Alemán-Gómez Y, Lage-Castellanos A, Marcos-Vidal L, Guzmán-De-Villoria JA, Catalina I, Lillo L, Muñoz-Blanco JL, -Ugalde AO, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):25-34. doi: 10.1080/21678421.2021.1962353. Epub 2021 Aug 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34396852
Zebrafish Models of Autosomal Recessive Ataxias.
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L. Quelle-Regaldie A, et al. Among authors: sobrido mj. Cells. 2021 Apr 8;10(4):836. doi: 10.3390/cells10040836. Cells. 2021. PMID: 33917666 Free PMC article. Review.
Zebrafish Models of Autosomal Dominant Ataxias.
Quelle-Regaldie A, Sobrido-Cameán D, Barreiro-Iglesias A, Sobrido MJ, Sánchez L. Quelle-Regaldie A, et al. Among authors: sobrido mj. Cells. 2021 Feb 17;10(2):421. doi: 10.3390/cells10020421. Cells. 2021. PMID: 33671313 Free PMC article. Review.
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: sobrido mj. J Neurol. 2021 Jul;268(7):2429-2440. doi: 10.1007/s00415-020-10387-4. Epub 2021 Jan 28. J Neurol. 2021. PMID: 33507371
103 results