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2021 4
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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N. van Hugte EJH, et al. Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. Brain. 2023. PMID: 37467479 Free PMC article.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
Fetal and obstetrics manifestations of mitochondrial diseases.
Adelizzi A, Giri A, Di Donfrancesco A, Boito S, Prigione A, Bottani E, Bollati V, Tiranti V, Persico N, Brunetti D. Adelizzi A, et al. J Transl Med. 2024 Sep 23;22(1):853. doi: 10.1186/s12967-024-05633-6. J Transl Med. 2024. PMID: 39313811 Free PMC article. Review.
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
D'haene E, López-Soriano V, Martínez-García PM, Kalayanamontri S, Rey AD, Sousa-Ortega A, Naranjo S, Van de Sompele S, Vantomme L, Mahieu Q, Vergult S, Neto A, Gómez-Skarmeta JL, Martínez-Morales JR, Bauwens M, Tena JJ, De Baere E. D'haene E, et al. Genome Biol. 2024 May 17;25(1):123. doi: 10.1186/s13059-024-03250-6. Genome Biol. 2024. PMID: 38760655 Free PMC article.
Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease.
Matusova Z, Dykstra W, de Pablo Y, Zetterdahl OG, Canals I, van Gelder CAGH, Vos HR, Pérez-Sala D, Kubista M, Abaffy P, Ahlenius H, Valihrach L, Hol EM, Pekny M. Matusova Z, et al. Glia. 2025 Jan;73(1):57-79. doi: 10.1002/glia.24618. Epub 2024 Sep 23. Glia. 2025. PMID: 39308436 Free PMC article.
44 results