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

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report

鉴定出一种导致夏洛瓦-萨格奈型痉挛性共济失调的新型SACS基因突变：病例报告

期刊:Journal of Medical Case Reports
影响因子:0.8
doi:10.1186/s13256-025-05480-z
Raggio, Víctor; Rey, Andrea; Simoes, Camila; Birriel, Florencia; Rodriguez, Soledad; Bentancor, Kateryn; Tapié, Alejandra; Spangenberg, Lucía
发表日期：2025
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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

CLN8基因的两个复合杂合变异导致儿童神经元蜡样脂褐质沉积症：病例报告

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2024.1379254
Baltar, Federico; Simoes, Camila; Garagorry, Francisco; Graña, Martín; Rodríguez, Soledad; Haydée Aunchayna, María; Tapié, Alejandra; Cerisola, Alfredo; González, Gabriel; Naya, Hugo; Spangenberg, Lucía; Raggio, Víctor
神经科学
发表日期：2024
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Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

SPATA5 基因中新型复合杂合变异的计算和线粒体功能研究支持其与致痫性脑病的因果关系

期刊:Human Genomics
影响因子:3.8
doi:10.1186/s40246-023-00463-x
Víctor Raggio, Martín Graña, Erik Winiarski, Santiago Mansilla, Camila Simoes, Soledad Rodríguez, Mariana Brandes, Alejandra Tapié, Laura Rodríguez, Lucía Cibils, Martina Alonso, Jennyfer Martínez, Tamara Fernández-Calero, Fernanda Domínguez, Melania Rosas Mezquida, Laura Castro, Alfredo Cerisola, H
细胞生物学
发表日期：2023
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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

LIS1基因中一种新的移码突变可能是平脑畸形的原因：病例报告

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-022-03595-6
Simoes, Camila; Graña, Martín; Rodriguez, Soledad; Baltar Yanes, Federico; Tapié, Alejandra; Dell'Oca, Nicolás; Naya, Hugo; Raggio, Víctor; Spangenberg, Lucía
LIS1
神经科学
发表日期：2022
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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

全基因组测序显示，一名患有泛血管动脉疾病的女孩的YY1AP1基因存在移码突变和大片段缺失。

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-021-00328-1
Raggio, Víctor; Dell'Oca, Nicolas; Simoes, Camila; Tapié, Alejandra; Medici, Conrado; Costa, Gonzalo; Rodriguez, Soledad; Greif, Gonzalo; Garrone, Estefania; Rovella, María Laura; Gonzalez, Virgina; Halty, Margarita; González, Gabriel; Shin, Jong-Yeon; Shin, Sang-Yoon; Kim, Changhoon; Seo, Jeong-Sun; Graña, Martin; Naya, Hugo; Spangenberg, Lucia
YY1
发表日期：2021
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Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

PURA基因中一种新的移码突变导致病因不明的严重脑病。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1622
Spangenberg, Lucía; Guecaimburú, Rosario; Tapié, Alejandra; Vivas, Susana; Rodríguez, Soledad; Graña, Martín; Naya, Hugo; Raggio, Víctor
神经科学
发表日期：2021
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