Treves Susan相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

携带隐性Ryr1突变的小鼠肌肉梭中RyR1的大量减少会改变本体感觉并导致脊柱侧弯。

期刊:Journal of Physiology-London

影响因子:4.4

doi:10.1113/JP287832

Ruiz, Alexis; Benucci, Sofia; Meier, Hervé; Schultz, Georg; Buczak, Katarzyna; Handschin, Christoph; Pena, Rodrigo C G; Treves, Susan; Zorzato, Francesco

发表日期：2025

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Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

RYR1相关恶性高热易感个体的肌肉超声异常

期刊:Journal of Neuromuscular Diseases

影响因子:3.4

doi:10.3233/JND-230018

van den Bersselaar, Luuk R; van Alfen, Nens; Kruijt, Nick; Kamsteeg, Erik-Jan; Fernandez-Garcia, Miguel A; Treves, Susan; Riazi, Sheila; Yang, Chu-Ya; Malagon, Ignacio; van Eijk, Lucas T; van Engelen, Baziel G M; Scheffer, Gert-Jan; Jungbluth, Heinz; Snoeck, Marc M J; Voermans, Nicol C

发表日期：2023

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Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis

RYR1相关恶性高热和横纹肌溶解症患者的神经肌肉症状

期刊:Brain Communications

影响因子:4.5

doi:10.1093/braincomms/fcac292

van den Bersselaar, Luuk R; Jungbluth, Heinz; Kruijt, Nick; Kamsteeg, Erik-Jan; Fernandez-Garcia, Miguel A; Treves, Susan; Riazi, Sheila; Malagon, Ignacio; van Eijk, Lucas T; van Alfen, Nens; van Engelen, Baziel G M; Scheffer, Gert-Jan; Snoeck, Marc M J; Voermans, Nicol C

发表日期：2022

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Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER()

钙传感器 G-CatchER() 介导的快速亚细胞钙反应和动态变化

期刊:iScience

影响因子:4.1

doi:10.1016/j.isci.2021.102129

Reddish, Florence N; Miller, Cassandra L; Deng, Xiaonan; Dong, Bin; Patel, Atit A; Ghane, Mohammad A; Mosca, Barbara; McBean, Cheyenne; Wu, Shengnan; Solntsev, Kyril M; Zhuo, You; Gadda, Giovanni; Fang, Ning; Cox, Daniel N; Mabb, Angela M; Treves, Susan; Zorzato, Francesco; Yang, Jenny J

细胞生物学

发表日期：2021

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The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol

RYR1相关恶性高热和横纹肌溶解症的神经肌肉和多系统特征：一项研究方案

期刊:Medicine

影响因子:1.4

doi:10.1097/MD.0000000000026999

van den Bersselaar, Luuk R; Kruijt, Nick; Scheffer, Gert-Jan; van Eijk, Lucas; Malagon, Ignacio; Buckens, Stan; Custers, José Ae; Helder, Leonie; Greco, Anna; Joosten, Leo Ab; van Engelen, Baziel Gm; van Alfen, Nens; Riazi, Sheila; Treves, Susan; Jungbluth, Heinz; Snoeck, Marc Mj; Voermans, Nicol C

发表日期：2021

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Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

RyR1 p.A4329D 突变的双等位基因表达会降低小鼠慢肌纤维的肌肉力量

期刊:Journal of Biological Chemistry

影响因子:3.9

doi:10.1074/jbc.RA120.013846

Elbaz Moran, Ruiz Alexis, Nicolay Sven, Tupini Chiara, Bachmann Christoph, Eckhardt Jan, Benucci Sofia, Pelczar Pawel, Treves Susan, Zorzato Francesco

发表日期：2020

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Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

表观遗传修饰因子的异常调控是硒蛋白N相关肌病患者发病机制的促成因素。

期刊:Human Mutation

影响因子:3.7

doi:10.1002/humu.23745

Bachmann, Christoph; Noreen, Faiza; Voermans, Nicol C; Schär, Primo L; Vissing, John; Fock, Johanna M; Bulk, Saskia; Kusters, Benno; Moore, Steven A; Beggs, Alan H; Mathews, Katherine D; Meyer, Megan; Genetti, Casie A; Meola, Giovanni; Cardani, Rosanna; Mathews, Emma; Jungbluth, Heinz; Muntoni, Francesco; Zorzato, Francesco; Treves, Susan

发表日期：2019

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Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

非典型周期性麻痹和肌痛：一种新型RYR1表型

期刊:Neurology

影响因子:8.5

doi:10.1212/WNL.0000000000004894

Matthews, Emma; Neuwirth, Christoph; Jaffer, Fatima; Scalco, Renata S; Fialho, Doreen; Parton, Matt; Raja Rayan, Dipa; Suetterlin, Karen; Sud, Richa; Spiegel, Roland; Mein, Rachel; Houlden, Henry; Schaefer, Andrew; Healy, Estelle; Palace, Jacqueline; Quinlivan, Ros; Treves, Susan; Holton, Janice L; Jungbluth, Heinz; Hanna, Michael G

发表日期：2018

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Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance

骨骼肌中视黄醇脱氢酶（SRP35/DHRS7C）的过度表达可激活mTORC2，增强葡萄糖代谢和肌肉性能。

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-017-18844-3

Ruiz, Alexis; Dror, Erez; Handschin, Christoph; Furrer, Regula; Perez-Schindler, Joaquin; Bachmann, Christoph; Treves, Susan; Zorzato, Francesco

发表日期：2018

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Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles

JP45-钙结合蛋白复合物在慢肌纤维钙离子内流中的作用

期刊:Journal of Biological Chemistry

影响因子:3.9

doi:10.1074/jbc.A115.709071

Mosca, Barbara; Eckhardt, Jan; Bergamelli, Leda; Treves, Susan; Bongianino, Rossana; De Negri, Marco; Priori, Silvia G; Protasi, Feliciano; Zorzato, Francesco

发表日期：2016

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