Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.
Fujimoto HM et al.
Human Genome Variation, 2023
Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Korover N et al.
Biological Research, 2023
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.
Jaouadi H et al.
International Journal of Molecular Sciences, 2022
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.
Espinosa KG et al.
Disease Models & Mechanisms, 2022
Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.
Luo S et al.
International Journal of Molecular Sciences, 2021
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.
Almannai M et al.
Circulation. Genomic and Precision Medicine, 2021
Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.
My I et al.
Journal of Clinical Medicine, 2021
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.
Levitas A et al.
Plos Genetics, 2020
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