Last Updated: 09/26/2026
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Found 30 publications
AAV-Delivered RNAi Targeting Mutant LDB3 Prevents and Reverses Myofibrillar Myopathy through Mechanosignaling Restoration.
Journal: bioRxiv : the preprint server for biology
Published: July 02, 2026
Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system.
Journal: Scientific reports
Published: May 23, 2022
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy.
Journal: Neuromuscular disorders : NMD
Published: August 25, 2021
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Journal: Muscle & nerve
Published: June 20, 2021
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: October 24, 2020
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation.
Journal: Communications biology
Published: June 17, 2020
Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy.
Journal: Neurology
Published: June 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Journal: Journal of neuromuscular diseases
Published: February 11, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Journal: Acta neuropathologica
Published: November 09, 2019
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.
Journal: Neuromuscular disorders : NMD
Published: August 11, 2019
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Journal: Neurology. Clinical practice
Published: December 28, 2018
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Journal: Frontiers in neurology
Published: December 04, 2017
Last Updated: 09/26/2026