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HuD (ELAVL4) gain-of-function impairs neuromuscular junctions and induces apoptosis in in vitro and in vivo models of amyotrophic lateral sclerosis.
Silvestri B, Mochi M, Mawrie D, de Turris V, Colantoni A, Borhy B, Medici M, Anderson EN, Garone MG, Zammerilla CP, Pandey UB, Rosa A. Silvestri B, et al. Among authors: pandey ub. bioRxiv [Preprint]. 2024 Mar 1:2023.08.22.554258. doi: 10.1101/2023.08.22.554258. bioRxiv. 2024. PMID: 38464028 Free PMC article. Preprint.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Cascajo-Almenara MV, Juliá-Palacios N, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart J, Nascimento A, Ortez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero D, García-Cazorla A, Pandey UB, Santos-Ocaña C, Artuch R. Cascajo-Almenara MV, et al. Among authors: pandey ub. Eur J Hum Genet. 2024 Apr;32(4):426-434. doi: 10.1038/s41431-023-01526-2. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316953
321 results