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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: bernardino cuesta b. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L. Jiménez Legido M, et al. Among authors: bernardino cuesta b. Neurologia (Engl Ed). 2022 Mar;37(2):91-100. doi: 10.1016/j.nrleng.2018.10.023. Epub 2021 Feb 8. Neurologia (Engl Ed). 2022. PMID: 35279228 Free article.
Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.
Jiménez Legido M, Cortés Ledesma C, Bernardino Cuesta B, López Marín L, Cantarín Extremera V, Pérez-Cerdá C, Pérez González B, López Martín E, González Gutiérrez-Solana L. Jiménez Legido M, et al. Neurologia (Engl Ed). 2022 Mar;37(2):91-100. doi: 10.1016/j.nrl.2018.10.006. Epub 2019 Apr 29. Neurologia (Engl Ed). 2022. PMID: 31047728 Free article. English, Spanish.
Peripheral facial nerve palsy in children during the COVID-19 pandemic.
Andina-Martínez D, Rodríguez-Palero S, Soto-Insuga V, Alonso-Cadenas JA, Bernardino-Cuesta B, Cartas-Carrión S, Cantarín-Extremera V. Andina-Martínez D, et al. Among authors: bernardino cuesta b. Rev Neurol. 2022 Jun 1;74(11):361-366. doi: 10.33588/rn.7411.2022033. Rev Neurol. 2022. PMID: 35635362 Free article. English, Spanish.
[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation].
Jimenez-Legido M, Cantarin-Extremera V, Bernardino-Cuesta B, Garcia-Fernandez M, Lopez-Marin L, Duat-Rodriguez A, Ruiz-Falco Rojas ML, Gutierrez-Solana LG. Jimenez-Legido M, et al. Among authors: bernardino cuesta b. Rev Neurol. 2019 Jun 16;68(12):533-534. doi: 10.33588/rn.6812.2018440. Rev Neurol. 2019. PMID: 31173335 Free article. Spanish.
[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients].
Cantarín-Extremera V, Bernardino-Cuesta B, Martín-Villaescusa C, Melero-Llorente J, Hernández-Martín A, Aparicio-López C, de Lucas-Collantes C, Tamariz Martel-Moreno A, Duat-Rodríguez A, Ruiz-Falcó-Rojas ML. Cantarín-Extremera V, et al. Among authors: bernardino cuesta b. Rev Neurol. 2021 Sep 1;73(5):141-150. doi: 10.33588/rn.7305.2020665. Rev Neurol. 2021. PMID: 34328203 Free article. Spanish.
17 results