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

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties.

与显性神经表型有关的天冬酰胺-tRNA合成酶（NARS1）变体表现出显性负性特性。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100519
Peeples Sheila M, Blake Keyana, Sutton Brendan L M, Konyukh Marina, Züchner Stephan, Stojkovic Tanya, Baets Jonathan, Antonellis Anthony
神经科学
发表日期：2026
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Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype

IARS1相关疾病的非典型表现：扩展表型和基因型

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70020
Wongkittichote, Parith; Jonatzke, Kira E; Hyde, Benjamin T; Peterson, Lance W; He, Mai; McKinstry, Robert C; Antonellis, Anthony; Shinawi, Marwan
发表日期：2025
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Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

一名患有小头畸形、发育迟缓和头发脆弱表型的患者携带CARS1功能缺失变异

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70078
Del Greco, Christina; Kuo, Molly E; Smith, Desiree E C; Mendes, Marisa I; Salamons, Gajja S; Nemcovic, Marek; Kodrikova, Rebeka; Sestak, Sergej; Stancheva, Malina; Antonellis, Anthony
发育与干细胞
发表日期：2025
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Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases

导致轴突型夏科-马里-图斯病（Charcot-Marie-Tooth disease）的显性NARS1突变扩大了NARS1相关疾病的范围。

期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcae070
Beijer, Danique; Marte, Sheila; Li, Jiaxin C; De Ridder, Willem; Chen, Jessie Z; Tadenev, Abigail L D; Miers, Kathy E; Deconinck, Tine; Macdonell, Richard; Marques, Wilson Jr; De Jonghe, Peter; Pratt, Samia L; Meyer-Schuman, Rebecca; Züchner, Stephan; Antonellis, Anthony; Burgess, Robert W; Baets, Jonathan
发表日期：2024
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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

利用模式生物进行的研究流程有助于深入了解TARS1功能缺失变异体的临床异质性。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2024.100324
Meyer-Schuman, Rebecca; Cale, Allison R; Pierluissi, Jennifer A; Jonatzke, Kira E; Park, Young N; Lenk, Guy M; Oprescu, Stephanie N; Grachtchouk, Marina A; Dlugosz, Andrzej A; Beg, Asim A; Meisler, Miriam H; Antonellis, Anthony
发表日期：2024
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A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family

一种此前未报道过的NARS1变异导致法国一个家族出现显性远端遗传性运动神经病。

期刊:Journal of the Peripheral Nervous System
影响因子:3.2
doi:10.1111/jns.12635
Theuriet, Julian; Marte, Sheila; Isapof, Arnaud; de Becdelièvre, Alix; Konyukh, Marina; Laureano-Figueroa, Stephanie M; Latour, Philippe; Quadrio, Isabelle; Maisonobe, Thierry; Antonellis, Anthony; Stojkovic, Tanya
发表日期：2024
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Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

致病性错义变异改变GARS1基因的336号密码子，导致不同的显性表型。

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.24372
Meyer, Alayne P; Forrest, Megan E; Nicolau, Stefan; Wiszniewski, Wojciech; Bland, Mary Pat; Tsao, Chang-Yong; Antonellis, Anthony; Abreu, Nicolas J
发表日期：2022
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The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease

核编码线粒体tRNA充电酶在人类遗传疾病中的作用

期刊:Genes
影响因子:2.8
doi:10.3390/genes13122319
Del Greco, Christina; Antonellis, Anthony
Human
线粒体
发表日期：2022
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A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

一名以近端运动神经病变为主的患者携带YARS1基因的错义功能丧失变异。

期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a006246
Forrest, Megan E; Meyer, Alayne P; Laureano Figueroa, Stephanie M; Antonellis, Anthony
发表日期：2022
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Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases

对与酵母胞质氨酰-tRNA合成酶相关的mRNA进行全面表征

期刊:RNA Biology
影响因子:3.4
doi:10.1080/15476286.2021.1935116
Garin, Shahar; Levi, Ofri; Forrest, Megan E; Antonellis, Anthony; Arava, Yoav S
发表日期：2021
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