Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
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Title
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features
Authors
Keywords
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Journal
Cells
Volume 5, Issue 3, Pages 33
Publisher
MDPI AG
Online
2016-08-11
DOI
10.3390/cells5030033
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Note: Only part of the references are listed.- Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison withSepn1myopathy
- (2016) David Gómez-Andrés et al. MUSCLE & NERVE
- Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
- (2016) Jordi Díaz-Manera et al. NEUROMUSCULAR DISORDERS
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- (2016) Brant M. Webster et al. TRENDS IN CELL BIOLOGY
- Lamins: Nuclear Intermediate Filament Proteins with Fundamental Functions in Nuclear Mechanics and Genome Regulation
- (2015) Yosef Gruenbaum et al. Annual Review of Biochemistry
- Nuclear membrane diversity: underlying tissue-specific pathologies in disease?
- (2015) Howard J Worman et al. CURRENT OPINION IN CELL BIOLOGY
- Nuclear envelope and striated muscle diseases
- (2015) Maria Chatzifrangkeskou et al. CURRENT OPINION IN CELL BIOLOGY
- Lamins: the structure and protein complexes
- (2015) Yosef Gruenbaum et al. CURRENT OPINION IN CELL BIOLOGY
- Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies
- (2015) J Scharner et al. GENE THERAPY
- Lamins at the crossroads of mechanosignaling
- (2015) Selma Osmanagic-Myers et al. GENES & DEVELOPMENT
- Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes
- (2015) Elisa Cesarini et al. JOURNAL OF CELL BIOLOGY
- LMNA-associated myopathies: The Italian experience in a large cohort of patients
- (2014) L. Maggi et al. NEUROLOGY
- Diagnostic approach to the congenital muscular dystrophies
- (2014) Carsten G. Bönnemann et al. NEUROMUSCULAR DISORDERS
- Striated muscle laminopathies
- (2014) Feriel Azibani et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Diverse lamin-dependent mechanisms interact to control chromatin dynamics
- (2014) Daria Camozzi et al. Nucleus
- Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations
- (2013) Takuro Arimura et al. CARDIOVASCULAR RESEARCH
- Partners and post-translational modifications of nuclear lamins
- (2013) Dan N. Simon et al. CHROMOSOMA
- ‘State-of-the-heart’ of cardiac laminopathies
- (2013) Marie-Elodie Cattin et al. CURRENT OPINION IN CARDIOLOGY
- Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
- (2013) Roberta Roncarati et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling
- (2013) Monika Zwerger et al. HUMAN MOLECULAR GENETICS
- Myoblasts and Embryonic Stem Cells Differentially Engraft in a Mouse Model of Genetic Dilated Cardiomyopathy
- (2013) Cyril Catelain et al. MOLECULAR THERAPY
- Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
- (2013) Nicola Carboni et al. MUSCLE & NERVE
- Broken nuclei – lamins, nuclear mechanics, and disease
- (2013) Patricia M. Davidson et al. TRENDS IN CELL BIOLOGY
- Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation
- (2013) Antoine Muchir et al. Skeletal Muscle
- Reactivation of autophagy amelioratesLMNAcardiomyopathy
- (2012) Jason C. Choi et al. Autophagy
- Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
- (2012) Ingrid A.W. van Rijsingen et al. EUROPEAN JOURNAL OF HEART FAILURE
- Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy
- (2012) M. P. Menezes et al. NEUROLOGY
- A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement
- (2012) Ayako Hattori et al. NEUROMUSCULAR DISORDERS
- Lamin A/C Mutants Disturb Sumo1 Localization and Sumoylation in Vitro and in Vivo
- (2012) Émilie Boudreau et al. PLoS One
- Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation
- (2012) J. C. Choi et al. Science Translational Medicine
- Rapamycin Reverses Elevated mTORC1 Signaling in Lamin A/C-Deficient Mice, Rescues Cardiac and Skeletal Muscle Function, and Extends Survival
- (2012) F. J. Ramos et al. Science Translational Medicine
- Clinical and genetic heterogeneity in laminopathies
- (2011) Anne T. Bertrand et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle
- (2011) E Mattioli et al. CELL DEATH AND DIFFERENTIATION
- Nuclear lamins and laminopathies
- (2011) Howard J. Worman JOURNAL OF PATHOLOGY
- Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing
- (2011) Adriano Jimenez-Escrig et al. MUSCLE & NERVE
- Inflammatory changes in infantile-onset LMNA-associated myopathy
- (2011) Hirofumi Komaki et al. NEUROMUSCULAR DISORDERS
- Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene
- (2010) Wei Wu et al. CIRCULATION
- Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy
- (2010) B. Granger et al. HUMAN GENETICS
- Nuclear Lamins
- (2010) T. Dechat et al. Cold Spring Harbor Perspectives in Biology
- Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
- (2009) Lucie Gueneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
- (2009) Eugenio Mercuri et al. ANNALS OF NEUROLOGY
- Lamin A/C deficiency as a cause of familial dilated cardiomyopathy
- (2009) Rohit Malhotra et al. CURRENT OPINION IN CARDIOLOGY
- Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused byLMNAgene mutations
- (2009) Nicola Carboni et al. MUSCLE & NERVE
- De novoLMNAmutations cause a new form of congenital muscular dystrophy
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- The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription
- (2008) T. Shimi et al. GENES & DEVELOPMENT
- Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies
- (2008) Michele Pasotti et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
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