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Page 1
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Webb BD, et al. Among authors: m bird l, fernandez garcia m. Hum Mutat. 2021 Jun;42(6):685-693. doi: 10.1002/humu.24201. Epub 2021 Apr 15. Hum Mutat. 2021. PMID: 33783914 Free PMC article.
Dynamic convergence of autism disorder risk genes across neurodevelopment.
Garcia MF, Retallick-Townsley K, Pruitt A, Davidson E, Dai Y, Fitzpatrick SE, Sen A, Cohen S, Livoti O, Khan S, Dossou G, Cheung J, Deans PJM, Wang Z, Huckins L, Hoffman E, Brennand K. Garcia MF, et al. bioRxiv [Preprint]. 2024 Aug 24:2024.08.23.609190. doi: 10.1101/2024.08.23.609190. bioRxiv. 2024. PMID: 39229156 Free PMC article. Preprint.
Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir.
Mansilla Fernández B, Paz Solís JF, García Romero MDM, Fernandez García MA, Román de Aragón M, Carceller Benito F, Pascual Pascual SI. Mansilla Fernández B, et al. Among authors: fernandez garcia ma. Eur J Paediatr Neurol. 2025 Jan 10;54:107-112. doi: 10.1016/j.ejpn.2025.01.005. Online ahead of print. Eur J Paediatr Neurol. 2025. PMID: 39832442
Ionic Covalent Organic Framework as Antibacterial Additive for Biobased Polymers.
Jiménez-Duro M, Barranco-García R, Martínez-Fernández M, Asenjo-Filgueira B, Martínez JI, Cuervo-Rodríguez R, Muñoz-Bonilla A, Fernández-García M, Segura JL. Jiménez-Duro M, et al. Among authors: fernandez garcia m. ACS Appl Mater Interfaces. 2024 Dec 25;16(51):70883-70890. doi: 10.1021/acsami.4c16938. Epub 2024 Dec 13. ACS Appl Mater Interfaces. 2024. PMID: 39670463
Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.
Río P, Zubicaray J, Navarro S, Gálvez E, Sánchez-Domínguez R, Nicoletti E, Sebastián E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yáñez RM, Alberquilla O, Díez B, Fernández-García M, García-García L, Ramírez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, García de Andoin N, López-Almaraz R, Catalá A, Barquinero J, Rodríguez-Perales S, Rao G, Surrallés J, Soulier J, Díaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. Río P, et al. Among authors: fernandez garcia m. Lancet. 2025 Dec 21;404(10471):2584-2592. doi: 10.1016/S0140-6736(24)01880-4. Epub 2024 Dec 3. Lancet. 2025. PMID: 39642902 Clinical Trial.
339 results