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Clinical and genetic heterogeneity in laminopathies

Biochemical Society transactions, 2011-12, Vol.39 (6), p.1687

2011

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The Pathogenesis and Therapies of Striated Muscle Laminopathies

Frontiers in physiology, 2018-10, Vol.9, p.1533-1533

2018

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Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Cells (Basel, Switzerland), 2023-08, Vol.12 (15), p.1995

2023

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Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

American journal of human genetics, 2009-09, Vol.85 (3), p.338-353

2009

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Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

Human molecular genetics, 2011-02, Vol.20 (4), p.694-704

2011

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Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo

PloS one, 2012-09, Vol.7 (9), p.e45918-e45918

2012

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Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype

PloS one, 2011-11, Vol.6 (11), p.e27283

2011

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DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

Human molecular genetics, 2012-03, Vol.21 (5), p.1037-1048

2012

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A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy

Molecular therapy. Methods & clinical development, 2019-12, Vol.15 (8), p.157-169

2019

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Preclinical Advances of Therapies for Laminopathies

Journal of clinical medicine, 2021-10, Vol.10 (21), p.4834

2021

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Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Molecular therapy. Nucleic acids, 2018-03, Vol.10, p.376-386

2018

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Lamin A/C Assembly Defects in LMNA -Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy

Cells (Basel, Switzerland), 2020-03, Vol.9 (4), p.844

2020

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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

Cells (Basel, Switzerland), 2020-11, Vol.9 (11), p.2388

2020

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199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2014-05, Vol.24 (5), p.453-462

2014

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Downregulation of Apoptosis-Inducing Factor in Harlequin Mutant Mice Sensitizes the Myocardium to Oxidative Stress–Related Cell Death and Pressure Overload–Induced Decompensation

Circulation research, 2005-06, Vol.96 (12), p.e92-e101

2005

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Consequences of Lmna Exon 4 Mutations in Myoblast Function

Cells (Basel, Switzerland), 2020-05, Vol.9 (5), p.1286

2020

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Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Journal of cell science, 2014-07, Vol.127 (Pt 13), p.2873-2884

2014

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Striated muscle laminopathies

Seminars in cell & developmental biology, 2014-05, Vol.29, p.107-115

2014

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Myocyte apoptosis in heart failure

Cardiovascular research, 2005-07, Vol.67 (1), p.21-29

2005

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Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.490-499

2016

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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.174-174, Article 174

2014

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The muscle dystrophy-causing ΔK32 lamin A/C mutant does not impair the functions of the nucleoplasmic lamin-A/C-LAP2α complex in mice

Journal of cell science, 2013-04, Vol.126 (Pt 8), p.1753-1762

2013

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Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.647-654

2011

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EUK-8, a Superoxide Dismutase and Catalase Mimetic, Reduces Cardiac Oxidative Stress and Ameliorates Pressure Overload-Induced Heart Failure in the Harlequin Mouse Mutant

Journal of the American College of Cardiology, 2006-08, Vol.48 (4), p.824-832

2006

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FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

Journal of neuromuscular diseases, 2016-11, Vol.3 (4), p.497-510

2016

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Clinical and genetic heterogeneity in laminopathies

The Pathogenesis and Therapies of Striated Muscle Laminopathies

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo

Apoptosis-inducing factor regulates skeletal muscle progenitor cell number and muscle phenotype

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy

Preclinical Advances of Therapies for Laminopathies

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Lamin A/C Assembly Defects in LMNA -Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy

Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands

Downregulation of Apoptosis-Inducing Factor in Harlequin Mutant Mice Sensitizes the Myocardium to Oxidative Stress–Related Cell Death and Pressure Overload–Induced Decompensation

Consequences of Lmna Exon 4 Mutations in Myoblast Function

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Striated muscle laminopathies

Myocyte apoptosis in heart failure

Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

The muscle dystrophy-causing ΔK32 lamin A/C mutant does not impair the functions of the nucleoplasmic lamin-A/C-LAP2α complex in mice

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

EUK-8, a Superoxide Dismutase and Catalase Mimetic, Reduces Cardiac Oxidative Stress and Ameliorates Pressure Overload-Induced Heart Failure in the Harlequin Mouse Mutant

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

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