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Redox Biology|December 2, 2025
The Rieske iron-sulfur protein is a primary target of molecular hydrogenShuto Negishi, Mikako Ito, Tomoya Hasegawa, et al.Neuromuscular Disorders : NMD|March 14, 2020
A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathyStefan Nicolau, Teerin Liewluck, Jeffrey L Elliott, et al.Journal of Clinical Neuromuscular Disease|April 28, 2012
Muscle restricted vasculitis causing dropped head syndrome: a case report and review of the literatureAmy Almaraz Nielsen, Benn E Smith, Andrew G Engel, et al.The Journal of Physiology|February 3, 2007
Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptorAmalia Di Castro, Katiuscia Martinello, Francesca Grassi, et al.The Journal of Clinical Investigation|June 26, 2012
Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gatingXin-Ming Shen, Joan M Brengman, Steven M Sine, et al.Parkinsonism & Related Disorders|November 26, 2010
Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's diseaseMasaaki Hirayama, Tomohiko Nakamura, Hirohisa Watanabe, et al.Scientific Reports|October 24, 2024
Sacubitril/valsartan improves diastolic left ventricular stiffness with increased titin phosphorylation via cGMP-PKG activation in diabetic miceNozomi Furukawa, Hiroki Matsui, Hiroaki Sunaga, et al.Journal of Neuromuscular Diseases|March 28, 2025
Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC)Masanobu Kinoshita, Masaomi Yamamoto, Ryuichi Machida, et al.JBMR Plus|March 28, 2024
Long-term oral meclozine administration improves survival rate and spinal canal stenosis during postnatal growth in a mouse model of achondroplasia in both sexesHiroto Funahashi, Masaki Matsushita, Ryusaku Esaki, et al.Nucleic Acids Research|February 10, 2017
Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoformsMohammad Nazim, Akio Masuda, Mohammad Alinoor Rahman, et al.Pageof 31