日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

CACNA1A 基因突变导致早发性共济失调：临床、畸形和结构功能特征分析

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms22105180
Martínez-Monseny, Antonio F; Edo, Albert; Casas-Alba, Dídac; Izquierdo-Serra, Mercè; Bolasell, Mercè; Conejo, David; Martorell, Loreto; Muchart, Jordi; Carrera, Laura; Ortez, Carlos I; Nascimento, Andrés; Oliva, Baldo; Fernández-Fernández, José M; Serrano, Mercedes
发表日期：2021
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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

磷酸甘露糖变位酶缺乏症 (PMM2-CDG) 中的中风样发作和小脑综合征：低糖基化驱动的通道病的证据

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms19020619
Izquierdo-Serra Mercè, Martínez-Monseny Antonio F, López Laura, Carrillo-García Julia, Edo Albert, Ortigoza-Escobar Juan Darío, García Óscar, Cancho-Candela Ramón, Carrasco-Marina M Llanos, Gutiérrez-Solana Luis G, Cuadras Daniel, Muchart Jordi, Montero Raquel, Artuch Rafael, Pérez-Cerdá Celia, Pérez Belén, Pérez-Dueñas Belén, Macaya Alfons, Fernández-Fernández José M, Serrano Mercedes
表观遗传
发表日期：2018
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