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

The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study

RYR1变异体的临床、组织学和遗传谱——一项以色列多中心队列研究

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm15041388
Ginsberg, Mira; Michelson, Marina; Aharoni, Sharon; Sagie, Liora; Michaeli, Yael; Rotenberg, Ditza; Finkelshtein, Vitaly; Yosovich, Keren; Argov, Zohar; Nissenkorn, Andrea; Lev, Dorit; Sadeh, Menachem; Dabby, Ron
RYR
RYR1
发表日期：2026
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Clinical and Genetic Spectrum of RYR1-Related Disease

RYR1相关疾病的临床和遗传谱

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000545612
Sarıkaya Uzan, Gamze; Özyılmaz, Berk; Doğan, Gizem; Baydan, Figen; Güzin, Yiğithan; Gençpınar, Pınar; Gazeteci Tekin, Hande; Olgaç Dündar, Nihal
RYR
RYR1
发表日期：2026
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Whole Genome Sequence Identifies the Second Allele: An Intronic Variant in RYR1 Contributes to Early-Onset Fetal Akinesia Deformation Sequence

全基因组序列鉴定出第二个等位基因：RYR1基因内含子变异导致早发性胎儿运动不能畸形序列

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000550111
Wang, Miaomiao; Hong, Jiawei; Han, Shuning; Jin, Pengzhen; Xu, Chunfei; Qian, Yeqing; Dong, Minyue
RYR
RYR1
发表日期：2026
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Multilocus pathogenic variants in MCM4, RYR1, and G6PD identified by trio-based whole-exome sequencing in a neonate with multisystem symptoms: a case report

通过基于三联体的全外显子组测序，在一名出现多系统症状的新生儿中鉴定出MCM4、RYR1和G6PD的多位点致病变异：病例报告

期刊:AME Case Reports
影响因子:0.7
doi:10.21037/acr-2025-131
Zhu, Kailai; Yi, Ying; Shen, Yijing; Yang, Sufang; Zheng, Fang; Yang, Jinglin; Zhang, Heng; Wang, Chuanguang
MCM4
RYR
RYR1
CM4
G6PD
发表日期：2026
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Phosphorylation of RYR1 at Ser(2902) decreases Ca(2+) leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke

RYR1蛋白Ser(2902)位点的磷酸化可降低骨骼肌中Ca²⁺的泄漏，并降低恶性高热和中暑的易感性

期刊:Science Signaling
影响因子:6.6
doi:10.1126/scisignal.adx3087
Yee, Rachel Sue Zhen; Lee, Chang Seok; Chang, Ting; Jung, Sung Yun; Yousif, Omar; Cavazos, Courtney; Colyer, John; Van Petegem, Filip; Rodney, George G; Hamilton, Susan L
信号转导
磷酸化
RYR
RYR1
发表日期：2025
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Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice

中心核疾病的分子机制：RYR1 I4895T 小鼠的蛋白质组学特征和潜在治疗生物标志物

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms262311451
Vantaggiato, Lorenza; Shaba, Enxhi; Fiore, Federica; Rossi, Daniela; Sorrentino, Vincenzo; Bini, Luca; Landi, Claudia
RYR
RYR1
发表日期：2025
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RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling

RYR1相关肌病不仅仅涉及钙稳态失调：转录组分析的启示

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom15111599
Sabbatini, Daniele; Gorgoglione, Domenico; Minervini, Giovanni; Fusto, Aurora; Suman, Matteo; Romualdi, Chiara; Vianello, Sara; Capece, Giuliana; Sorarù, Gianni; Marchioretti, Caterina; Pennuto, Maria; Vedovelli, Luca; Szabadkai, Gyorgy; Bello, Luca; Pegoraro, Elena
RYR
RYR1
发表日期：2025
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Serum Calcium Concentration Is Associated with Bone Mineral Density and Synonymous Variants in the RYR1 Gene in a Mexican-Mestizo Population

血清钙浓度与墨西哥混血人群的骨矿物质密度和RYR1基因同义变异相关

期刊:Medical Sciences
影响因子:4.4
doi:10.3390/medsci13040324
López-Pérez, Tania V; Jiménez-Ortega, Rogelio F; Cruz-Rangel, Armando; Aparicio-Bautista, Diana I; Fernández-López, Juan C; Becerra-Cervera, Adriana; Reyes-Grajeda, Juan P; Salmerón, Jorge; Hidalgo-Bravo, Alberto; Rivera-Paredez, Berenice; Velázquez-Cruz, Rafael
RYR
RYR1
发表日期：2025
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NAD(+) dyshomeostasis in RYR1-related myopathies

RYR1相关肌病中的NAD(+)稳态失衡

期刊:Skeletal Muscle
影响因子:4.4
doi:10.1186/s13395-025-00390-6
Lawal, Tokunbor A; Riekhof, Willa; Groom, Linda; Varma, Pooja; Chrismer, Irene C; Kokkinis, Angela; Grunseich, Christopher; Witherspoon, Jessica W; Razaqyar, Muslima S; Sinaii, Ninet; Meilleur, Katherine G; Xiang, Lichen; Buzkova, Jana; Euro, Liliya; Mohassel, Payam; Dirksen, Robert T; Todd, Joshua J
RYR
RYR1
发表日期：2025
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A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

RYR1基因中的一个创始变异与高肌酸激酶血症、肌痛和肌肉痉挛有关。

期刊:European Journal of Neurology
影响因子:3.9
doi:10.1111/ene.16471
Segarra-Casas, Alba; Iruzubieta, Pablo; Kapetanovic, Solange; Hernández-Laín, Aurelio; Jericó, Ivonne; Fernández-Torrón, Roberto; Maneiro, Miren; Marco-Moreno, Pablo; Zelaya-Huerta, M Victoria; Rodríguez-Santiago, Benjamín; Calafell, Francesc; Töpf, Ana; Straub, Volker; Vallejo-Illarramendi, Ainara; López de Munain, Adolfo; Gallano, Pia; Gonzalez-Quereda, Lidia
信号转导
RYR
RYR1
发表日期：2025
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