CMD Publication Library
Congenital Muscular Dystrophy:

LMNA & EDMD
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Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy, Marchel, 2021
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Consequences of Lmna Exon 4 Mutations in Myoblast Function, Gomez-Dominguez, 2020,
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Using nuclear envelope mutations to explore age-related skeletal muscle weakness, Battey, 2020
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Need for NAD +: Focus on Striated Muscle Laminopathies, Cardoso, 2020
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Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells, Earle, 2020
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Emery–Dreifuss muscular dystrophy: focal point nuclear envelope, Muchir, 2020
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Lamin A‐mediated nuclear lamina integrity is required for proper ciliogenesis, Fan, 2020
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Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report, Li, 2020
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Identification of Genes and Pathways Regulated by Lamin A in Heart, Pradas, 2020
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Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation, Magno, 2020
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Using nuclear envelope mutations to explore age-related skeletal muscle weakness, Battey, 2020
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The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction, Gomez, 2020
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Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis, Fan, 2020
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An Omics View of Emery–Dreifuss Muscular Dystrophy, Vignier, 2020
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Deletion of entire LMNA gene as a cause of cardiomyopathy, Cirino, 2020
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Atrial Arrhythmias in Emery-Dreifuss Muscular Dystrophy: Approach to Successful Ablation, Butt, 2020
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An Omics View of Emery-Dreifuss Muscular Dystrophy, Vignier, 2020
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Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy, Peretto, 2020
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Lamin A/C Cardiomyopathy With E203K Pathogenic Mutation, Sheikh, 2020
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Nuclear Filaments: Role in Chromosomal Positioning and Gene Expression, Bera, 2020
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Lamin A/C Mechanotransduction in Laminopathies, Donnaloja,2020
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Consequences of Lmna Exon 4 Mutations in Myoblast Function, Gomez-Dominguez, 2020
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Lamin A/C Cardiomyopathy with E203K Pathogenic Mutation, Sheikh, 2020
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SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia, Zheng, 2020
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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability, Cotta, 2020
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Research on the knockout of LMNA gene by CRISPR/Cas9 system in human cell lines, Liu, 2019
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Cardiac and Neuromuscular Features of Patients with LMNARelated Cardiomyopathy, Peretto, 2019
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Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells, Earle, 2019
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Antepartum Diagnosis and Management of Lamin A/C Disease, Reza, 2019
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Lamin A/C Cardiomyopathy: Implications for Treatment, Chen, 2019
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Cardiac manifestations in Emery–Dreifuss muscular dystrophy, Faiella, 2019
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Emery-Dreifuss muscular dystrophy: focal point nuclear envelope, Muchir, 2019
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LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability, Cotta, 2019
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Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy, Lee, 2019
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Identification of COMMD1 as a novel lamin A binding partner, Jiang, 2019
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Unweaving the role of nuclear Lamins in neural circuit integrity, Deal, 2019
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Cellular and Animal Models of Striated Muscle Laminopathies, Nicolas, 2019
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Cellular and Animal Models of Striated Muscle Laminopathies, Nicolas, 2019
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The Cutting Edge: The Role of mTOR Signaling in Laminopathies, Chiarini, 2019
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Deciphering Nuclear Mechanobiology in Laminopathy, Hah, 2019
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The Cutting Edge: The Role of mTOR Signaling in Laminopathies, Chiarini, 2019
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Cardiac manifestations in Emery–Dreifuss muscular dystrophy, Faiella, 2018
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Cell signaling abnormalities in cardiomyopathy caused by Lamin AC gene mutations, Worman, 2018
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The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype, Gonzales-Cruz, 2018
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The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype, Gonzalez-Cruz, 2018
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The Pathogenesis and Therapies of Striated Muscle Laminopathies, Brull, 2018
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Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants, Van Tienen, 2018
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Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene, Sivitskaya, 2018
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Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy, Mattioli, 2018
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Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies, Gerbino, 2018
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Emery-Dreifuss Muscular Dystrophy-Related Myopathy with TMEM43 Mutations, Mukai, 2018
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Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles, Janin, 2018
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Complex effects of laminopathy mutations on nuclear structure and function, Ho, 2018
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Single molecule analysis of lamin dynamics, Serebrvannyy, 2018
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Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases, Samson, 2018
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Genetics of Dilated Cardiomyopathy: Clinical Implications, Paldino, 2018
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Lamin A, Chromatin and FPLD2: Not Just a Peripheral Ménage-à- Trois, Briand, 2018
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Plasma microRNAs as biomarkers for Lamin A/C related dilated cardiomyopathy, Toro, 2018
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Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts, Dubose, 2018
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Insight into the functional organization of nuclear lamins in health and disease, Tatli, 2018
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Lamins and bone disorders: current understanding and perspectives, Gargiuli, 2018
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Laminopathies; Mutations on single gene and various human genetic diseases, Kang, 2018
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OGT (O-GlcNAc Transferase) Selectively Modifies Multiple Residues Unique to Lamin A, Simon, 2018
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Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene, Sivitskaya, 2018
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Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy, Fayssoil, 2018
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Clinical aspects of Emery-Dreifuss muscular dystrophy, Madej-Pilarczyk, 2018
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A novel feature extraction technique for pulmonary sound analysis based on EMD, Mondal, 2018
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy, Azibani, 2018
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Lamins and Lamin-associated Proteins in Gastrointestinal Health and Disease, Brady, 2018
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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy, Azibani, 2018