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Human Molecular Genetics|February 13, 2025
5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathyAlexis Ruiz, Faiza Noreen, Hervé Meier, et al.
Journal of Cell Science|June 15, 2007
Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cellsLaura Bracci, Mirko Vukcevic, Giulio Spagnoli, et al.
Annals of the New York Academy of Sciences|March 8, 2007
Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctateGiordana Feriotto, Alessia Finotti, Giulia Breveglieri, et al.
The FEBS Journal|August 8, 2007
Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locusGiordana Feriotto, Alessia Finotti, Giulia Breveglieri, et al.
The Journal of Physiology|May 1, 2009
Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated musclesSusan Treves, Mirko Vukcevic, Marcin Maj, et al.
Human Molecular Genetics|December 24, 2016
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutationsChristoph Bachmann, Heinz Jungbluth, Francesco Muntoni, et al.
Human Molecular Genetics|April 4, 2020
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutationsJan Eckhardt, Christoph Bachmann, Sofia Benucci, et al.
Muscle & Nerve|January 1, 2003
Ryanodine receptor antibodies in myasthenia gravis: epitope mapping and effect on calcium release in vitroGeir Olve Skeie, Ase Mygland, Susan Treves, et al.
The Journal of General Physiology|April 13, 2016
Functional characterization of orbicularis oculi and extraocular musclesMarijana Sekulic-Jablanovic, Nina D Ullrich, David Goldblum, et al.
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