Associated Papers
Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.
Michou L et al.
Joint Bone Spine, 2025
Exploring Syndecan-4 and MLP and Their Interaction in Primary Cardiomyocytes and H9c2 Cells.
Støle TP et al.
Cells, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Importance of genetic testing in unexplained cardiac arrest.
Grondin S et al.
European Heart Journal, 2022
35352813 (PubMed )
Supplement: ehac145_supplementary_data.zip › CASPER_WES228_supplement_tables_-_R1.xlsx › Supp._Table_5
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Chauhan PK et al.
Scientific Reports, 2022
CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.
Huang H et al.
The Journal of Gene Medicine, 2022
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A et al.
Gene, 2018
Muscle Lim Protein and myosin binding protein C form a complex regulating muscle differentiation.
Arvanitis DA et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2017
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
Bos JM et al.
Molecular Genetics and Metabolism, 2006
Select a paper to view details