2024

• Zufiría M, Pikatza-Menoio O, Garciandia-Arcelus M, Bengoetxea X, Jiménez A, Elicegui A, et al. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis. Acta Neuropathol. 2024 Sep 16;148(1):43.
• Chen J, Crouch EE, Zawadzki ME, Jacobs KA, Mayo LN, Choi JJ, Lin PY, Shaikh S, Tsui J, Gonzalez-Granero S, Waller S, Kelekar A, Kang G, Valenzuela EJ, Birrueta JO, Diafos LN, Wedderburn-Pugh K, Di Marco B, Xia W, Han CZ, Coufal NG, Glass CK, Fancy SPJ, Alfonso J, Kriegstein AR, Oldham MC, Garcia-Verdugo JM, Kutys ML, Lehtinen MK, Combes AJ, Huang EJ. Proinflammatory immune cells disrupt angiogenesis and promote germinal matrix hemorrhage in prenatal human brain. Nat Neurosci. 2024 Nov;27(11):2115-2129. doi: 10.1038/s41593-024-01769-2.
• Heffel MG, Zhou J, Zhang Y, Lee DS, Hou K, Pastor-Alonso O, Abuhanna KD, Galasso J, Kern C, Tai CY, Garcia-Padilla C, Nafisi M, Zhou Y, Schmitt AD, Li T, Haeussler M, Wick B, Zhang MJ, Xie F, Ziffra RS, Mukamel EA, Eskin E, Nowakowski TJ, Dixon JR, Pasaniuc B, Ecker JR, Zhu Q, Bintu B, Paredes MF, Luo C. Temporally distinct 3D multi-omic dynamics in the developing human brain. Nature. 2024 Nov;635(8038):481-489. doi: 10.1038/s41586-024-08030-7.
• Lambert N, Forte F, El Moussaoui M, Monseur J, Raus N, Polushin A, Michonneau D, Shultz C, Hogan WJ, Balaguer-Roselló A, Gil-Perotín S, Brijs J, Chauvet P, Gavriilaki M, Carre M, Dulamea AO, Chalandon Y, Salmenniemi U, Duminuco A, Ram R, García-Cadenas I, Porto G, Nguyen S, Smallbone P, González-Vicent M, Santoro JD, Willems E, Baron F, Servais S, Beguin Y, Maquet P; CNS-GvHD Study Group. Central nervous system manifestations in acute and chronic graft-versus-host disease. Brain. 2024 Oct 23:awae340. doi: 10.1093/brain/awae340.
• Poyatos-García J, Soblechero-Martín P, Liquori A, López-Martínez A, Maestre P, González-Romero E, Vázquez-Manrique RP, Muelas N, García-García G, Ohana J, Arechavala-Gomeza V, Vílchez JJ. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model. Skelet Muscle. 2024 Oct 1;14(1):21. doi: 10.1186/s13395-024-00353-3.
• Jiménez-Jiménez J, Navarrete I, Azorín I, Martí P, Vílchez R, Muelas N, Cabello-Murgui J, Millet E, Vázquez-Costa JF, Vílchez JJ, Sevilla T, Sivera R. Insights into phenotypic variability caused by GARS1 pathogenic variants. Eur J Neurol.2024 Oct;31(10):e16416. doi: 10.1111/ene.16416.
• Baviera-Muñoz R, Carretero-Vilarroig L, Pedro-Ibor A, Jaijo T, Del Valle-Carranza A, Martínez-Torres I, Millán JM, Bataller L, Aller E. STUB1 mutations as possible genetic modifiers in spinocerebellar ataxia type 8. Mov Disord. 2024 Sep;39(9):1641-1644. doi: 10.1002/mds.29910.