Emery‐Dreifuss muscular dystrophy

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy

(2018) Zhao-Xia Wang et al.   CHINESE MEDICAL JOURNAL

N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

(2018) Blanca Morales Rodriguez et al.   HUMAN MOLECULAR GENETICS

Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies

(2018) Agnieszka Madej-Pilarczyk et al.   Neurologia i Neurochirurgia Polska

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Clinical aspects of Emery-Dreifuss muscular dystrophy

(2018) Agnieszka Madej-Pilarczyk   Nucleus

Clinical aspects of Emery-Dreifuss muscular dystrophy

(2018) Agnieszka Madej-Pilarczyk   Nucleus

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

(2018) Nicolas Vignier et al.   HUMAN MOLECULAR GENETICS

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations

(2018) Taiji Mukai et al.   MUSCLE & NERVE

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

(2018) Babi Ramesh Reddy Nallamilli et al.   Annals of Clinical and Translational Neurology

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis

(2017) Can Zhou et al.   HUMAN MOLECULAR GENETICS

Immunohistochemistry on a panel of Emery–Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology

(2017) Phu Le Thanh et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

(2017) R. Brian Sommerville et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient

(2017) Masaya Shimojima et al.   Scientific Reports

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

(2016) Agnieszka Madej-Pilarczyk et al.   FOLIA NEUROPATHOLOGICA

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

(2016) Jordi Díaz-Manera et al.   NEUROMUSCULAR DISORDERS

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies

(2015) Jean K. Mah et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies

(2015) J Scharner et al.   GENE THERAPY

Emery–Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane

(2015) Janine Pfaff et al.   JOURNAL OF CELL SCIENCE

A new titinopathy

(2015) Rafael De Cid et al.   NEUROLOGY

Nesprin-2 mediated nuclear trafficking and its clinical implications

(2015) Pranav Kelkar et al.   Nucleus

Nesprin-2 mediated nuclear trafficking and its clinical implications

(2015) Pranav Kelkar et al.   Nucleus

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation

(2014) Antoine Muchir et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation

(2014) Brendan R. Wilding et al.   JOURNAL OF CELL SCIENCE

Dominant muscular dystrophy with a novelSYNE1gene mutation

(2014) Marina Fanin et al.   MUSCLE & NERVE

LMNA-associated myopathies: The Italian experience in a large cohort of patients

(2014) L. Maggi et al.   NEUROLOGY

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization

(2014) Peter Meinke et al.   PLoS Genetics

Nuclear Mechanics and Mechanotransduction in Health and Disease

(2013) Philipp Isermann et al.   CURRENT BIOLOGY

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders

(2013) Frédéric Anselme et al.   HEART RHYTHM

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

(2013) C. Chauveau et al.   HUMAN MOLECULAR GENETICS

Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies

(2013) Ping Li et al.   HUMAN MUTATION

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy

(2013) B. Eymard et al.   REVUE NEUROLOGIQUE

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

Accumulation of the Inner Nuclear Envelope Protein Sun1 Is Pathogenic in Progeric and Dystrophic Laminopathies

(2012) Chia-Yen Chen et al.   CELL

Abnormal p38  mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation

(2012) A. Muchir et al.   HUMAN MOLECULAR GENETICS

Arrhythmia-related workup in hereditary myopathies

(2012) Josef Finsterer et al.   JOURNAL OF ELECTROCARDIOLOGY

2012 ACCF/AHA/HRS Focused Update Incorporated Into the ACCF/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities

(2012) Cynthia M. Tracy et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

(2012) M. P. Menezes et al.   NEUROLOGY

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation

(2012) J. C. Choi et al.   Science Translational Medicine

The LINC complex and human disease

(2011) Peter Meinke et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Cardiac Involvement in Patients With Muscular Dystrophies

(2011) David Verhaert et al.   Circulation-Cardiovascular Imaging

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

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

(2011) D. Selcen et al.   NEUROLOGY

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features

(2011) Belinda S. Cowling et al.   NEUROMUSCULAR DISORDERS

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy

(2010) Wen-Chen Liang et al.   ANNALS OF NEUROLOGY

Interactions Between Nuclei and the Cytoskeleton Are Mediated by SUN-KASH Nuclear-Envelope Bridges

(2010) Daniel A. Starr et al.   Annual Review of Cell and Developmental Biology

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)

(2010) Alan E. H. Emery   CLINICAL GENETICS

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

(2010) N. Deconinck et al.   NEUROMUSCULAR DISORDERS

Lamin-binding Proteins

(2010) K. L. Wilson 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

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants

(2009) Albert Busch et al.   EXPERIMENTAL CELL RESEARCH

Mammalian SUN Protein Interaction Networks at the Inner Nuclear Membrane and Their Role in Laminopathy Disease Processes

(2009) Farhana Haque et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A 49-year-old man with contractures, weakness, and cardiac arrhythmia

(2009) J. T. Kissel et al.   NEUROLOGY

Cardiac manifestations of neuromuscular disorders in children

(2009) Daphne T. Hsu   Paediatric Respiratory Reviews

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

Emerin and the Nuclear Lamina in Muscle and Cardiac Disease

(2008) James M. Holaska   CIRCULATION RESEARCH

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

(2008) T. Dechat et al.   GENES & DEVELOPMENT

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins

(2008) A. Muchir et al.   HUMAN MOLECULAR GENETICS

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

(2008) Michele Pasotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities

(2008) Andrew E. Epstein et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY