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RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodríguez-Palmero A, Schlüter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Gutiérrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A. Launay N, et al. Among authors: area gomez e. J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836. J Clin Invest. 2023. PMID: 37463447 Free PMC article.
Better understanding the neurobiology of primary lateral sclerosis.
Ozdinler PH, Gautam M, Gozutok O, Konrad C, Manfredi G, Area Gomez E, Mitsumoto H, Erb ML, Tian Z, Haase G. Ozdinler PH, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):35-46. doi: 10.1080/21678421.2020.1837175. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 33602014 Free PMC article. Review.
Lipid level alteration in human and cellular models of alpha synuclein mutations.
Avisar H, Guardia-Laguarta C, Surface M, Papagiannakis N, Maniati M, Antonellou R, Papadimitriou D, Koros C, Athanassiadou A, Przedborski S, Lerner B, Stefanis L, Area-Gomez E, Alcalay RN. Avisar H, et al. NPJ Parkinsons Dis. 2022 Apr 25;8(1):52. doi: 10.1038/s41531-022-00313-y. NPJ Parkinsons Dis. 2022. PMID: 35468903 Free PMC article.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C. Carbonell-Corvillo P, et al. Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26. Neuromuscul Disord. 2018. PMID: 30166250 Free article.
60 results