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Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder.
Neural Regen Res. 2024 Nov 1;19(11):2377-2386. doi: 10.4103/NRR.NRR-D-23-01614. Epub 2024 Jan 31.
Neural Regen Res. 2024.
PMID: 38526274
Free PMC article.
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.
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
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