General Information

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• Management of CMD: A Family Guide

• Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

• CMD Fact Sheet, 2008

• Muscular Dystrophy Canada- Muscle Facts, 2012

• Primary Care Providers Diagnosis Guide

• Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy, Farber, 2020

• Exercise therapy in muscle diseases: open issues and future perspectives, Siciliano, 2019

• Physiological aspects of muscular adaptations to training translated to neuromuscular diseases, Berardinelli, 2019

• Congenital Muscular Dystrophy and Congenital Myopathy, Butterfield, 2019

• Muscular Dystrophies, Mercuri, 2019

• Congenital Muscular Dystrophy and Congenital Myopathy, Butterfield, 2019

• The 2020 version of the gene table of neuromuscular disorders (nuclear genome), Benarroch, 2019

• Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls, Nicolau, 2019

• Evidence based Guideline Summary: Evaluation, diagnosis, and management of congenital muscular dystrophy, 2015

• Diagnostic Approach to the Congenital Muscular Dystrophies, Bonnemann, 2013

• Diagnosis and etiology of congenital muscular dystrophy, O'Grady, 2016

• Congenital muscular dystrophies in China, Ge, 2019

• Weaning from mechanical ventilation in people with neuromuscular disease: protocol for a systematic review, Neto, 2019

• Potential Therapies Using Myogenic Stem Cells Combined with Bio Engineering Approaches for Treatment of Muscular Dystrophies, Motohashi, 2019

• From excitation to intracellular Ca movements in skeletal muscle: Basic aspects and related clinical disorders, Allard, 2019

• Influence of microRNAs and exosomes in muscle health and diseases, Lam, 2019

• Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle, 2019, Vita

• iPSCs as a Platform for Disease Modeling, Drug Screening, and Personalized Therapy in Muscular Dystrophies, 2019, Ortiz-Vitali

• Physical exercise in adults with hereditary muscular disease, Fossmo, 2018

• Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial, Fauroux, 2018

• Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, 2018, Torjman

• Multidisciplinary Perioperative Care for Children with Neuromuscular Disorders, Kynes, 2018

• Associations of sport participation with self perception, exercise self-efficacy and quality of life among children and adolescents, 2018, Velde

• Antisense OligonucleotideBased Therapy for Neuromuscular Disease, Sardone, 2018

• An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders, Sagath, 2018

• At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?, Kinga, 2018

• Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause, Theurissen, 2018

• Multidisciplinary Perioperative Care for Children with Neuromuscular Disorders, Kynes, 2018

• A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy,Cornwall, 2018

• Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial, Fauroux, 2018

• A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy, Cornwall, 2018

• Cognitive impairment in neuromuscular diseases: A systematic review, Orsini, 2018

• At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?, Gawlik, 2018

• NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project, Lawlor, 2018

• Muscular Dystrophies, Carter, 2018

• Treating pediatric neuromuscular disorders: The future is now, Dowling, 2018

• The 2018 version of the gene table of monogenic neuromuscular disorders, Bonne 2017

• Genetic and Clinical Advances of Congenital Muscular Dystrophy, Xiao, 2017

• ECM-Related Myopathies and Muscular Dystrophies: Pros and Cons of Protein Therapies, VanRy, 2017

• Fibrosis development in early-onset muscular dystrophies: Mechanisms and translational implications, Serrano, 2017

• Beyond mice: Emerging and transdisciplinary models for the study of earlyonset myopathies, Jagla, 2017

• Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early onset myopathies, Moulin, 2017

• Ca2+ handling abnormalities in early onset muscle diseases: Novel concepts and perspectives, Treves, 2017

• Tailormade management of thoracic scoliosis with cervical hyperextension in muscular dystrophy, Angelliaume, 2017

• Genetic and Clinical Advances of Congenital Muscular Dystrophy, Fu, 2017

• New era in genetics of early-onset muscle disease: Breakthroughs and challenges, Ravenscroft, 2017 

• The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States, Reddy, 2017

• Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period, Sframeli, 2017

• Palliative care in neuromuscular diseases, de Visser, 2017

• Prenatal Diagnosis of Congenital Myopathies and Muscular Dystrophies, Massalska, 2016

• Clinical course of growth in patients with congenital neuromuscular disease is a single multidisciplinary neuromuscular clinic, Watne, 2016

• Mechanisms of Chronic Muscle Wasting and Dysfunction after an Intensive Care Unit Stay: A Pilot Study , Dos Santos, 2016

• Common Data Elements for Muscle Biopsy Reporting, Dastgir, 2016

• The Genetic basis of Undiagnosed Muscular Dystrophies and Myopathies, Sarvarese, 2016

• Electrical Impedance Myography Discriminates Congenital Muscular Dystrophy from Controls, Schwartz, 2016

• mportance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies, Yis, 2016

• Rare disease clinical trials: Power in numbers, Wicklund, 2016

• Anesthetic management of 877 pediatric patients undergoing muscle biopsy for neuromuscular disorders: a 20-year review, Shapiro, 2016

• Learning disabilities in neuromuscular disorders a springboard for adult life, Astrea, 2016

• 212th ENMC International Workshop:Animal models of congenital muscular dystrophies,Naarden, The Netherlands, 29–31 May 2015, Saunier, 2016​

• Evaluation, diagnosis, and management of Congenital Muscular Dystrophy, Kang, 2015

• The Neuromuscular Differential Diagnosis of Joint Hypermobility, Donkervoort, 2015​

• Congenital myopathies and muscular dystrophies, Gilbreath, 2014

• Congenital myopathies and muscular dystrophies, Gilbreath, 2014

• Congenital Muscular Dystrophies, Kirschner, 2013

• Congenital Muscular Dystrophies and Congenital Myopathies, Iannaccone, 2013

• Congenital Muscular Dystrophy Overview, Sparks, 2012

• Congenital Muscular Dystrophy- A Review of phenotypical and diagnostic aspects, Reed, 2009

• Congenital Muscular Dystrophy- Review of pathogenesis and therapeutic perspectives, Reed, 2009

• Exercising with a Muscle Disease, 2009

• Prenatal Stress and Quality of Life in Children with Neuromuscular Disease, Mah, 2008

• Congenital muscular dystrophies-New aspects of an expanding group of disorders, Lisi, 2006

• Coping with Illness Related Problems and of Life in Adult Individuals with Muscular Dystrophy, Ahlstrom, 1996

Cardiac

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• Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy, Mazzarotto, 2020

• Peripheral microRNA panels to guide the diagnosis of familial cardiomyopathy, Belmonte, 2020

• Cardiac involvement in the muscular dystrophies, Silvestri, 2019

• Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy, Iwata, 2019

• Disease-specific aspects of management of cardiac arrhythmias in patients with muscular dystrophies, Majewski, 2019

• Cell biology and mechanopathology of laminopathic cardiomyopathies, Miroshnikova, 2019

• Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy, Gigli, 2019

• Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy, Bertero, 2019.

• Epigenetics in dilated cardiomyopathy, Yu, 2019

• Human Induced Pluripotent Stem Cell Derived Cardiomyocytes as Models for Genetic Cardiomyopathies, Brodehi, 2019

• Advanced Evolution of Pathogenesis Concepts in Cardiomyopathies, Li, 2019

• Understanding malignant hyperthermia: each move forward opens our eyes to the distance left to travel, Dirkson,2019

• The DWORF micropeptide enhances contractility and prevents heart failure in a mouse model of dilated cardiomyopathy, Makarewich, 2019

• Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases, Refaat, 2019

• Malignant hyperthermia: still an issue for neuromuscular diseases?, DeWei, 2018

• 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay, Kusumoto, 2018

•  ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies, Russo, 2018

• Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine, Matsa,

• Updated Clinical Overview on Cardiac Laminopathies: An Electrical and Mechanical Disease, Peretto, 2018

• Genetics of Dilated Cardiomyopathy, Fu, 2018

• Genetic and non-genetic determinants of clinical phenotypes in cardiomyopathy, Nomura, 2018

• Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State of-the-Art Review, Arbustini, 2018

• Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management, Peters, 2018 

• Cardiac Phenotypes in Hereditary Muscle Disorders, Arbustini, 2018

• Therapeutic approaches for cardiac regeneration and repair, Hashimoto,2018

• Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature, Captur, 2018

• Neuromuscular diseases with hypertrophic cardiomyopathy, Cesar, 2018

• Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene, Sivitskaya, 2018

• A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance, Huttner, 2018

• Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy, Li, 2018

• Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation, Galeta, 2018

• Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies, Gerbino, 2018

• STAC3 variants cause a congenital myopathy with distinctive dysmorphic features andmalignant hyperthermia susceptibility, Zaharieva, 2018

• Genetics of Dilated Cardiomyopathy: Clinical Implications, Paldino, 2018

•  Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing, Lin, 2018 

•  The heart-disease vaccine, King, 2018

• Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies, Luc, 2018

• Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy, Stroud, 2018

• Alternative splicing in cardiomyopathy, Beggali, 2018

• Intermediate filaments in cardiomyopathy,  Tsikitis, 2018

• Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy, Zahr, 2018

• Plasma microRNAs as biomarkers for Lamin A/Cr elated dilated cardiomyopathy, Toro, 2018

• N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear Atype lamins gene, Rodriquez, 2018

• Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy Stroud, 2018

• Four and a half LIM domain protein signaling and cardiomyopathy, Liang, 2018

• Skeletal, cardiac, and respiratory muscle function and histopathology in the P448L neo-mouse model of FKRP-deficient muscular dystrophy, Yu, 2018

• Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation, Chatzifrangkeskou, 2018

• Risk Stratification of Genetic, Dilated Cardiomyopathies Associated With Neuromuscular Disorders: Role of Cardiac Imaging,van der Bijl, 2018

• Complex Roads from Genotype to Phenotype in Dilated Cardiomyopathy, Bondue, 2018

• Cardiomyopathy with LMNA Mutation, Ito, 2018

• Genome Editing Redefines Precision Medicine in the Cardiovascular Field, Dzilic, 2018

• Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy, Messner, 2018

• Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival, Choi, 2018

• A Novel Truncating LMNA Mutation in Patients with CardiacConduction Disorders and Dilated Cardiomyopathy, Kawakami, 2018

• Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy, Janin, 2017

Pulmonary​

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• Cure CMD Pulmonary Function Testing

• Numerical Analysis of Airway Mucus Clearance Effectiveness Using Assisted Coughing Techniques, Ran, 2020

• Respiratory Involvement in Patients with Neuromuscular Diseases: A Narrative Review, Voulgaris, 2019

• Non-invasive ventilation during surgery under neuraxial anesthesia: a pathophysiological perspective on application and benefits and a systematic literature review, Corcione, 2019

• Breathe DMD!, Mayer 2018

• Detection of early nocturnal hypoventilation in neuromuscular disorders, Trucco, 2018

• Respiratory Care in Neuromuscular Diseases, Sahni, 2018

• A novel feature extraction technique for pulmonary sound analysis, Mondal, 2018

• Sleep-Disordered Breathing in Neuromuscular and Chest Wall Diseases, Hilbert, 2018

• Neuromuscular disorders and chronic ventilation, Alexiou, 2018

• Airway clearance techniques in neuromuscular disorders: A state of the art review, Chatwin, 2018

• Airway clearance techniques in neuromuscular disorders, Toussaint, 2018

• Imaging of respiratory muscles in neuromuscular disease: A review, Harlaar, 2018

• Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo-mouse model of FKRP-deficient muscular dystrophy, Yu, 2018

• Airway clearance techniques in neuromuscular disorders: A state of the art review, Chatwin, 2018

• Invasive versus non-invasive ventilation for acute respiratory failure in neuromuscular disease and chest wall disorders, Luo, 2017

• Neuromuscular scoliosis complication rates from 2004 to 2015: a report from the Scoliosis Research Society Morbidity and Mortality database, Cognetti, 2017

• Long-term non-invasive ventilation in muscular dystrophy, Kinnear, 2017

• Management of acute neuromuscular disorders, Wijdicks, 2017

• Prognostic value of nocturnal hypoventilation in neuromuscular patients, Ojlikowski, 2017

• Respiratory complications, management and treatments for neuromuscular disease in children, Buu, 2017

• Effect of expiratory positive airway pressure on tidal volume during non-invasive ventilation, Kinnear, 2017

• Update on the respiratory management of patients with chronic neuromuscular disease, Priou, 2017

• Mouthpiece ventilation and complementary techniques in patients with neuromuscular disease: A brief clinical review and update, Pinto, 2017

• The clinical use of mechanical insufflation-exsufflation in children with neuromuscular disorders in Europe, Hoy, 2017

• Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review, Landfeldt, 2017

• Effect of Noninvasive Ventilation on Tracheal Reintubation Among Patients with Hypoxemic Respiratory Failure Following Abdominal Surgery, Jaber, 2016

• Respiratory failure because of neuromuscular disease, Howard, 2016

• Noninvasive ventilation for neuromuscular respiratory failure, Rabinstein, 2016

• Home Mechanical Ventilation: An Overview, Simonds, 2016

• Prognostic Value of Initial Assessment of Residual Hypoventilation Using Nocturnal Capnography in Mechanically Ventilated Neuromuscular Patients: A 5-Year Follow-up Study, 2016

• Hereditary Myopathies with Early Respiratory Insufficiency in Adults, Naddaf, 2016

• Respiratory Muscle Weakness and Respiratory Failure in Pediatric Neuromuscular Disorders: The Value of Nonivasive Determined Tension-Time Index, Stehling, 2016

• Orthognathic Surgery in Patients With Congenital Myopathies and Congenital Muscular Dystrophies: Case Series and Review of the Literature, Bezak, 2016

• Noninvasive Mechanical Ventilation Improves Breathing-Swallowing Interaction of Ventilator Dependent Neuromuscular Patients: A Prospective Crossover Study, Garguilo, 2016

• Clinical Outcomes Associated with Home Mechanical Ventilation: A Systematic Review, MacIntyre, 2016

• The Role of Noninvasive Ventilation in Patients with "Do Not Intubate" Order in the Emergency Setting, Vilaca, 2016

• Noninvasive airway approaches for acute neuromuscular respiratory failure in emergency departments, Chen, 2016

• Adherence and Barriers to Hyperinsufflation in Children With Congenital Muscular Dystrophy, Pascoe, 2016

• Facilitators and Barriers to Noninvasive Ventilation Adherence in Youth with Nocturnal Hypoventilation Secondary to Obesity or Neuromuscular Disease, Ennis, 2015

• Diagnosis of muscle diseases presenting with early respiratory failure, Pfeffer, 2015

• Efficacy of mechanical insufflation-exsufflation in extubating unweanable subjects with restrictive pulmonary disorders, Bach, 2015

• Emergency Neurological Life Support: Acute Non-traumatic Weakness, Flower, 2015

• Sleep-disordered Breathing in Neuromuscular Disease, Aboussouan. 2015

• Impact of Hyperglycemia in the Outcome of Patients with Primary Neuromuscular Respiratory Failure, Cabrera-Serrano, 2015

• Muscle impairment in neuromuscular disease using an expiratory/inspiratory pressure ratio, Fregonezi, 2015

• Invasive home mechanical ventilation: living conditions and health-related quality of life, Huttmann, 2015

• Lifestyle Implications of Home Mechanical Insufflation-Exsufflation for Children With Neuromuscular Disease and Their Families, Moran, 2015

• Long Term Non-Invasive Ventilation in Children: Impact on Survival and Transition to Adult Care, Chatwin, 2015

• Neuromuscular disorders and sleep in critically ill patients, Irfan, 2015

• Home Mechanical Ventilation in Childhood-Onset Hereditary Neuromuscular Diseases: 13 Years' Experience at a Single Center in Korea, Han, 2015

• Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits, Mahede, 2015

• Pulmonary Manifestations of Neuromuscular Diseases, Khatwa, 2015

• Can daytime measures of lung function predict respiratory failure in children with neuromuscular disease, Pandit, 2015

• Mechanical Insufflation-Exsufflation: The Good, the Bad, and the Ugly, Willis, 2015

• Noninvasive Ventilation Adherence in Youth with Nocturnal Hypoventilation Secondary to Obesity or Neuromuscular Disorder: It Takes a Village, 2015, Yuan

• Respiratory pathophysiology in congenital muscle disorders: implications for pro-active care and clinical research, Rutkowski, 2015

• Extubation Protocol, 2014

• Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy, Marques, 2014

• Diaphragmatic dysfunction in Collagen VI myopathies, Quijano-Roy, 2014

• Total intravenous anesthesia for a patient with Fukuyama congenital muscular dystrophy undergoing scoliosis surgery, Matsuda, 2014

• Anesthesia Recommendations for Patients Suffering from Merosin-deficient congenital muscular dystrophy, Orphanet, 2013

• Respiratory Advice- Scoliosis- For patients with myotubular and centronuclear myopathy and other congenital myopathies, 2012

• British Thoracic Society guideline for respiratory management of children with neuromuscular weakness, Hull, 2012

• Guidance on breathing and non-invasive Ventilation for Children from the age of two years old living with a neuromuscular condition, 2012

• Screening for Sleep-Disordered Breathing in Neuromuscular Disease Using a Questionnaire for Symptoms Associated with Diaphragm Paralysis, Steier, 2010

• Should Patients with Neuromuscular Disease Be Denied the Choice of the Treatment of Mechanical Ventilation, Rumbak, 2009

• Pulmonary Function Testing in Neuromuscular Disorders, Sharma, 2009

• Families of SMA, Breathing Basics, 2009

• Cough Assist-A patient guide, Philips Respironics, 2009

• Equipment Options for Cough Augmentation, Ventilation, and Noninvasive Interfaces in Neuromuscular Respiratory Management, Boitano, 2009

• Extubation of Patients with Neuromuscular Weakness- A New Management Paradigm, Bach, 2009

• The Pathophysiology of Respiratory Impairment in Pediatric Neuromuscular Diseases, Panitch, 2009

• Initiating Noninvasive Management of Respiratory Insufficiency in Neuromuscular Disease, Benditt, 2009

• American College of Chest Physicians Consensus Statement on the Respiratory and Related Management of Patients With Duchenne Muscular Dystrophy, Birnkrant, 2007

• Mental Health of Mothers Caring for Venilator-Assisted Children at Home, Kuster, 2006

• Mechanical insufflation/exsufflation- Has it come of age? - A commentary, Bach, 2003

• Safe Swallowing Advice, Bagnall

Pain

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• Prevention And Management Of Limb Contractures In Neuromuscular Diseases, Skalsky, 2016

• Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy, Kraeva, 2015

• Diagnosis and management of inherited cardiomyopathies, Millar, 2015

• Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy, Lager, 2015

• Social support, depression, and physical disability-Age and diagnostic group effects, Jensen, 2014

• Pain Location And Intensity Impacts Function In Persons With Myotonic Dystrophy Type 1 And Facioscapulohumeral Dystrophy With Chronic Pain, Miro, 2014

• Acceptance of Pain in Neurological Disorders Associations With Functioning and Psychosocial Well-Being, Kratz, 2013

• Hemodynamic instability during prone spine surgery in a patient with merosin-deficient congenital muscular dystrophy, Jimenez, 2013

• Chronic Pain in Neuromuscular Disease, Miro, 2012

• Using Palliative Care in Progressive Neuromuscular Disease to Maximize Quality of Life, Carter, 2012

• Quality-of-Life Measures in Children With Neurological Conditions- Pediatric Neuro-QOL, Lai, 2012

• Outcome Assessment in Neuromuscular Spinal Deformity, Bowen, 2012

• Cognitions, Metacognitions, and Chronic Pain, Yoshida, 2012

• Pallitive Care Services in Families of Males with Duchenne Muscular Dystrophy, Arias, 2011

• Serial Casting for the Management of Ankle Contracture in Duchenne Muscular Dystrophy, Glanzman, 2011

• Pain in Youths With Neuromuscular Disease, Engel, 2009

• Pain and activity limitations in children with Duchenne or Becker muscular dystrophy, Zebracki, 2008

• Pain in Hereditary Neuromuscular Disorders and Myasthenia Gravis A National Survey of Frequency, Characteristics, and Impact, Guy, 2008

• Pain and Neuromuscular Disease, Tiffreau, 2006

• Chronic Pain in Persons With Neuromuscular Disease, Jensen, 2005

• A motor function measure scale for neuromuscular diseases. Construction and Validation Study, Berard, 2005​

• Nonmolecular treatment for muscular dystrophies, Bushby, 2005

• Pain, osteopenia and body composition of 22 patients with Duchenne muscular dystrophy- a descriptive study, Douvillez, 2005

• Practical Problems and Management of Seating Through the Clinical Stages of Duchenne’s Muscular Dystrophy, Liu, 2003

α-Dystroglycanopathies

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• Limb girdle muscular dystrophy 2I Fact Sheet, 2013

• A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy, Saylam, 2020

• Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy, Kuwabara, 2020

• A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients, Song, 2019

• Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure, Ujihara, 2019

• biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for a-Dystroglycanopathies, Gumlaw, 2019

• Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy, Yamaguchi, 2019

• Soluble Heparin Binding Epidermal Grow Factor-Like Growth Factor Is a Regulator of GALGT2 Expression and GALGT2 Dependent Muscle Neuromuscular Phenotypes, Cramer, 2019

• Muscular, Ocular and Brain Involvement Associated with a DeNovo 11q13.2q14.1 Duplication: Contribution to the DifferentialDiagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy, Villar-Quiles-Rocio, 2019

• Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familia Dandy-Walker formation, Traversa, 2019

• Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related in the dystrophin-glyocoprotein complex, 2019

• Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation, Arora, 2019

• A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of a-dystroglycan, Kim, 2019

• Metabolomics Analysis of Skeletal Muscles from FKRP-Deficient Mice Indicates Improvement Gene Replacement Therapy, Vannoy, 2019

• Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants, Henriques, 2019

• Demembranated Skeletal and Cardiac Fibers Produce Less Force with Altered Cross-Bridge Kinetics in a Mouse Model for Limb-Girdle Muscular Dystrophy 2i, Fenwick, 2019

• Advances in imaging of brain abnormalities in neuromuscular disease, Angelini, 2019

• Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G, Lee, 2019

• Renal dysfunction is rare in Fukuyama congenital muscular dystrophy, Ishigaki, 2019

• Whole exam sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset of muscular dystrophy dystroglycanopathy, Dai, 2018

• Limb girdle muscular dystrophy due to mutations in POMT2, Oestergaard, 2018

• Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy, Sarkozy, 2018

• Walker-Warburg syndrome, Suthar, 2018

• Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018

• The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy, Nickolls, 2018

• Dose-Dependent Effects of FKRP Gene-Replacement Therapy on Functional Rescue and Longevity in Dystrophic Mice, Vannoy, 2018

• A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathes, Serafini, 2018

• Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study, Astrea, 2018

• Clinical features and FKRP mutations of congenital muscular dystrophy 1C, Hong, 2018

• National registry of patients with Fukuyama congenital muscular dystrophy in Japan, Ishigaki, 2018

• Ribitol restores functionally glycosylated a-dystroglycan and improves  muscle function in dystrophic FKRP-mutant mice, Cataldi, 2018

• Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness, Johnson, 2018

• Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report, Fecarotta 

• Recent advancements in understanding mammalian Omannosylation, Sheikh, 2018

• A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy, Zaum, 2018

• Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene, Xie, 2018

• A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pai, Strang-Karlsson, 2018

• Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy, Chen, 2018

• Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy, Rubio-Fernández, 2018

• CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan, Imae, 2018

• TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy, Larson, 2018 

• Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice, Tucker, 2018

• Uniparental disomy unveils a novel recessive mutation in POMT2, Brun, 2018

• Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo-mouse model of FKRP-deficient muscular dystrophy, Yu, 2018

• B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss, Al Dhaibani, 2018

• Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein, Bouchet-Seraphin, 2018

• Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage, Sudo, 2018

• Congenital muscular dystrophy-dystroglycanopathy type A, featuring bilateral retinal dysplasia and vertical angle kappa, Peiris, 2018

• Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishirara, 2018

• Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy, Wu, 2018

• Untangling the Complexity of Limb-girdle Muscular Dystrophies, Liewluck, 2018

• Targeted deletion of RIC8A in mouse neural precursor cells interferes with the development of the brain, eyes and muscles, Kask, 2018

• Ribitol-phosphate-a newly identified post translational glycosylation unit in mammals: structure, modification enzymes, and relationship to human disease, Kanagawa, 2018

• Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes, Haro, 2018

• Distinct expression of functionally glycoslated alpha-dystroglycan in muscle and non-muscle tissues of FKRP mutant mice, Blaeser, 2018

• Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome, Luo, 2017

• The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, Magri, 2017

• Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy, Kanagawa, 2017

• Recent advancements in understanding mammalian 0-mannosylation, Sheikh, 2017

• A Population-Based Study on Congenital Disorders of Protein N- and Combine with O-Glycosylation Experience in Clinical and Genetic Diagnosis, Perez-Cerda, 2017​

• Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy, Yoshioka, 2017

• Mutations in INPP5K Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment, Wiessner, 2017

• Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients, Wang, 2017​

• Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene, Vannoy, 2017

• Adeno-Associated Virus-Mediated Mini-Agrin Delivery is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I, Vannoy, 2017

• Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy", Van den Bergh, 2017

• A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy, Van den Bergh, 2017

• Spinal correction in patients with Fukuyama congenital muscular dystrophy, Saito, 2017

• Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset, Smogavec, 2017

• A dystroglycan mutation (p.Cys667Phe) associated to Muscle-Eye-Brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein, Signorino, 2017

• Recent advancements in understanding mammalian O-mannosylation, Sheikh, 2017

• Mutations in GMPPB Presenting with Pseudometabolic Myopathy, Panicucci, 2017

• Evaluation of the effect of a flexed Neo cassette within the dystroglycan (Daq1) gene, Sciandra, 2017

• Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017​

• aDystroglycan hypoglycosylation affects cell migration by influencing B-dystroglycan membrane clustering and filopodia length: a multiscale confocal microscopy analysis, Palmieri, 2017​

• Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases, Navarro-Cobos, 2017

• 3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy, Nagae, 2017​

• Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature, Nathan, 2017

• B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy dystroglycanopathies, Maroofian, 2017

• Sexually Dimorphic Skeletal Muscle and Cardiac Dysfunction in a Mouse Model of Limb Girdle Muscular Dystrophy 2I, Maricelli, 2017

• Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan, Manya, 2017

• Comprehensive target capture/next generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan, Liang, 2017

• Mammalian O-mannosylation of Cadherins and Plexins is Independent of Protein O-mannosyltransferase 1 and 2, Larsen, 2017

• Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan, Kobayashi, 2017

• What is new in CDG?, Jaeken, 2017

• Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1, Hu, 2017

• Spinal fusion in a patient with Fukuyama congenital muscular dystrophy, Hino, 2017

• Novel copy number variation of POMGNT1 associated with  muscle-eye-brain disease detected by next-generation sequencing, Fu, 2017

• Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-Related Protein and rescues disease phenotype in murine model of Limb-Girdle Muscular Dystrophy Type 2I, Frattini, 2017

• Structural flexibility of human a-dystroglycan, Covaceuszach, 2017

• Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations, Balcin, 2017

• Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated a-dystroglycan levels in patients homozygous for common FKRP mutation, Alhamidi, 2017

• Cell endogenous activities of fukutin and FKRP coexist with TMEM5, Nishihara, 2016

• Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy, Wu, 2018

• ISPD produces CDPribitol used by FKTN and FKRP to transfer ribitol phosphate onto αdystroglycan, Gerin, 2016

• Prenatal†muscle†development†in†a†mouse†model†for†the†secondary dystroglycanopathies, Kim, 2016

• Central†Nervous†Involvement†in†Patients†with†Fukuyama†Congenital Muscular†Dystrophy, Ishigaki, 2016

• Congenital muscular dystrophy 1D causes matrix metalloproteinase activation and blood-brain barrier impairment, Schactae, 2016

• A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss, Servian-Morilla, 2016

• Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i, Maricelli, 2016

• A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome, Tanaka, 2016​

• B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016

• Evidence of early defects in Cajal Retzius cell localisation during brain development in a mouse model of dystroglycanopathy, Booler, 2016

• The gross motor function measure is valid for Fukuyama congenital muscular dystrophy, Sato, 2016

• Structure of protein O-mannose kinase reveals a unique active site architecture, Zhu, 2016

• A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy, Mudau, 2016

• Direct mapping of additional modifications on phosphorylated O-glycans of α- dystroglycan by mass spectrometry analysis in conjunction with knocking out of causative genes for dystroglycanopathy, Yagi, 2016

• Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation, Yang, 2016​

• Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan, Marchese, 2016

• The muscular dystrophy gene TMEM5 encodes a ribitol β1-4 Xylosyltransferase required for the functional glycosylation of dystroglycan, Manya, 2016

• Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis, Izquierdo-Lahuerta, 2016

• Protein O-linked mannose β-1,4-N-acetylglucosaminyltransferase 2 (POMGNT2) is a gatekeeper enzyme for functional glycosylation of α-dystroglycan, Halmo, 2016

• Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice, Blaeser, 2016

• In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE, Bhattachanya, 2016

• Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy, Astrea, 2016​

• Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy, Booler, 2016​

• Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation,  2016

• Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T), Oestergaard, 2016

• B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I, Thomas, 2016

• Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I, Brun, 2016​

• Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy, Kanagawa, 2016

• Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation, Heywood, 2016

• Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy, Foltz 2016

• Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan, Marchese, 2016

• Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice, Foltz, 2016

• A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects, Beck, 2016

• Prenatal muscle development in a mouse model for the secondary dystroglycanopathies, Kim, 2016

• TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement, Astrea, 2016

• Respiratory management of patients with Fukuyama congenital muscular dystrophy, Sato, 2016

• Rhabdomyolysis featuring muscular dystrophies, Lahoria, 2016​

• The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice, Whitmore, 2016

• Structure of the polyisoprenyl-phosphate lycosyltransferase GtrB and insights into the mechanism of catalysis, Ardiccioni, 2015

• POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy, Endo, 2015

• Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement, Ceyhan-Birsoy, 2015

• Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies, Belaya, 2015

• Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy, Ishigaki, 2015

• ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto a-dystroglycan, Gerin, 2015

• GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation, Jenson, 2015

Collagen VI (Bethlem-Intermediate-Ullrich)

​

• Ullrich Congenital Myopathy Fact Sheet, 2015

• Bethlem Myopathy Fact Sheet, 2013

• Hypoglycemia in patients with congenital muscle disease, Hayes, 2020

• A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019

• Spatio-temporal expression and distribution of collagen VI during zebrafish development, Tonelotto, 2019

• Unraveling the pathophysiology of Bethlem Myopathy using a zebrafish model for the disease, Idoux, 2019

• Collagen VI Deficiency Results in Structural Abnormalities in the Mouse Lung, Mereness, 2019

• Moderate-intensity aerobic exercise improves fitness in bethlem myopathy, Vissing, 2019

• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies, Jain, 2019

• Bethlem myopathy: a series of 16 patients and description of seven new associated mutations, Panades-de Oliveira, 2019

• Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Musculary Dystrophy, Liu, 2019

• Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy, Shimomura, 2019

• A Novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019

• Role of adiponectin in the metabolism of skeletal muscles in collagen VI-related myopathies, Gamberi, 2019

• A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies, Bolduc, 2019

• COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report, Bao, 2019

• Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene, Peng 2019

• Bethlem myopathy: a series of 16 patients and description of seven new associated mutations, Panades‑de Oliveira, 2019

• Extracellular Collagen VI Has Prosurvival and Autophagy Instructive Properties in Mouse Fibroblasts, Castagnaro, 2018

• COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysical Study, Verma, 2018

• Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum, Marakhonov, 2018

• Targeted next generation sequencing reveals novel splice site mutations in COL6A3 in a patient with congenital muscular dystrophy, Das Bhowmik, 2018

• Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance, Suarez, 2018

• Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018

• Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum, Marakhonov, 2018

• ​​COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiologcal Study, Verma, 2018

• Authentication of collagen VI antibodies, Endicott, 2018

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018

• Collagen VI is required for the structural and functional integrity of neuromuscular junction, Cescon, 2018

• Collagen type VI-related myopathy, Souza, 2017

• Bethlem myopathy in a Portuguese patient - case report, Martins, 2017

• Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis, Nichols, 2017

• Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability, Rodriguez, 2017

• Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis, Nichols, 2017

• Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin a2-related dystrophy, Meilleur, 2017

• Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy, Marrosu, 2017​

• Comprehensive target capture/next generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy Taiwan, Liang, 2017

• Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management, Fraser, 2017

• Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, Cummings, 2017

• Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond, Lamande, 2017

• Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea, Lee, 2017​

• Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders, D'Amico, 2017

• Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study, Chakrabarty, 2017

• Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy, Bellance, 2017

• Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy, Butterfield, 2017​

• A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation, Koppolu, 2017​

• Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis, Izu, 2016

• Deep RNA profiling identified Clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy, Scotton, 2016

• Target and Sandwich Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies, Fu, 2016

• Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation, Huynh, 2016

• Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy, Sardone, 2016

• Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy, Bendixen, 2016

• Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial, Castagnaro, 2016

• Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Middle End of the Spectrum, Cruz, 2016

• Collagen VI deficiency reduces muscle pathology, but does not improve muscle function in the y-sarcoglycan-null mouse, de Greef, 2016

• Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy, Echeverria, 2016

• Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Muscular Dystrophy, Noguchi, 2016

• Distrofia muscular congénita de tipo Ullrich. Utilidad de la resonancia magnética muscular en el diagnóstico, Carrasco-Marina, 2015

• A nonsense variant in COL6A1 in Landseer dogs with muscular dystrophy, Steffen, 2015

• A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish, Radev, 2015

• Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy, Fu, 2015

• Autophagy – a fundamental cellular mechanism on the verge of clinical translation, Jungbluth, 2015

• Paternal germline mosaicism in collagen VI related myopathies, Armaroli, 2015

• Bethlem myopathy- long-term follow-up identifies COL6 mutations predicting severe clinical evolution, Deconinck, 2015

• Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators, Paco, 2015

• Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability, Donkervoort, 2015

• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies, Meilleur, 2014

• NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models, Zulian, 2014

• Diaphragmatic dysfunction in Collagen VI myopathies, Quijano-Roy, 2014

• Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle, Triplett, 2014

• Natural history of pulmonary function in collagen VI-related myopathies, Foley, 2013

• The expanded collagen VI family: new chains and new questions, Fitzgerald, 2013

• Collagen Type VI-Related Disorders, Lampe, 2012

• The Collagen VI-Related Myopathies- Muscle Meets Its Matrix- The Clinical Spectrum of Disease, Bonnemann, 2011

• Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results, Merlini, 2011

• Collagen VI-related muscle disorders, Higuchi, 2011

• Zebrafish models of collagen VI-related myopathies, Telfer, 2010

• The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice, Tiepolo, 2009

• Natural history of Ullrich congenital muscular dystrophy, Nadeau, 2009

• Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue, Hicks, 2009

• Therapy of collagen VI-related myopathies (Bethlem and Ullrich), Merlini, 2008

• Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies, Merlini, 2008

• Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins, Angelin, 2007

• Collagen VI involvement in Ullrich syndrome- A clinical, genetic, and immunohistochemical study, Mercuri, 2002

Collagen XII​

​

• Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts, Witting, 2018

• ​A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects, Punetha, 2017

• Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis, Izu, 2016

• Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy, Hicks, 2013

• Recessive and dominant mutations in COL12A1 cause a novel EDS-myopathy overlap syndrome in humans and mice, Zou, 2013

• Type XII collagen regulates osteoblast polarity and communication during bone formation, Izu, 2011

LAMA2 (Merosin Deficient/MDC1A)

​

• Merosin-deficient congenital muscular dystrophy (MDC1A) Fact Sheet, 2014

• Laminin and Integrin in LAMA2-Related Congenital Muscular Dystrophy: From Disease to Therapeutics, Barraza-Flores, 2020

• Fibrogenesis in LAMA2-Related Muscular Dystrophy is a Central Tenet of Disease Etiolgoy, Accorsi, 2020

• A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report, Tran, 2020

• Isolation and Characterization of Muscle-Derived Stem Cells from Dystrophic Mouse Models, Onofre-Oliveira, 2020

• Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes, Yurchenco, 2019

• Rare variant in LAMA2 gene causing congenital muscular dystrophy, Amim, 2019

• Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A, Hall, 2019

• A mutation-independent-approach-for-muscular-dystrophy-via-upregulation-of-a-modifier-gene, Kemaladewi, 2019

• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies, Jain, 2019

• Early skeletal muscle pathology and disease progress in the dy3k/dy3k mouse model of congenital muscular dystrophy with laminin a2 chain-deficiency, Gawlik, 2019

• PTPα is required for laminin-2-induced Fyn–Akt signaling to drive oligodendrocyte differentiation, Ly, 2019

• Improvement of motor conduction velocity in hereditary neuropathy of LAMA2-CMD dy2J/dy2J mouse model by glatiramer acetate, Rabie, 2019

• Pax7, Pax3 and Mamstr Genes are Involved in Skeletal Muscle Impaired Regeneration of dy2J/dy2J Mouse Model of Lama2-CMD, Yanay, 2019

• A mutation-independent approach for muscular dystrophy via upregulaton of a modifier gene, Kemaladewi, 2019

• Exam sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI, Saredi, 2019

• Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure leukoencephalopathy: A case report and protein analysis, Ding, 2019

• Exploratory Profiling of Urine MicroRNAs in dy2J/dy2J Mouse Model of LAMA2-CMD: Relation to Disease Progression, Moreira Soarer Oliveira, 2018

• Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018

• Chick embryonic cells as a source for generating in vitro model of muscle cell dystrophy, Urja, 2018

• RGD inhibition of itgb1 ameliorates laminin-a2 deficient zebrafish fibre pathology, Wood, 2018

• Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study, Fontes-Oliveira, 2018

• Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin a2-related muscular dystrophy, Ge, 2018

• Child Neurology∫ LAMA2 muscular dystrophy without contractures, Dean 2018

• Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy, Hara, 2018

• LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient, 2018

• LAMA2 gene mutation update: Towards a more comprehensive picture of laminin-a2 variometer and its related phenotypes, Oliveira, 2018

• Identification of Skeletal Muscle Satellite Cells by Immunofluorescence with Pax7 and Laminin Antibodies, 2018, Feng

• Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018

• Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin, Qiao, 2018

• Natural disease history of the dy2J mouse model of laminin a2 (merosin)-deficient congenital muscular dystrophy, Pasteuning-Vuhman, 2018

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018

• Increased polyamines as protective disease modifiers in Congenital Muscular Dystrophy, Kemaladewi, 2018

• Novel LAMA2 Gene Mutations Associated with Mersin-Deficient Congenital Muscular Dystrophy, Hashemi-Gorji, 2018

• Laminin a1 reduces muscular dystrophy in dy2J mice, Gawlik, 2018

• Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy, Zhou, 2018

• Chimeric protein identification of dystrophic, Pierson and other laminin polymerization residues, McKee, 2018

• COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiologcal Study, Verma, 2018

• Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2, Yis, 2017

• A Low-Cost Pulse Generator for Exacerbating Muscle Fiber Detachment Phenotypes in Zebrafish, Thomasi, 2017

• Aberrant Caspase Activation in Laminin-a2-Deficient Human Myogenic Cells is Mediated by p53 and Sirtuin Activity, Noon, 2017

• Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy, Wu, 2017

• Improving Reproducibility of Phenotypic Assessments in the DyW Mouse Model of Laminin-a2 Related Congenital Muscular Dystrophy, Willmann, 2017

• Congenital Muscular Dystrophies and Myopathies: An Overview and Update, Schorling, 2017

• A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy, Smith, 2017

• Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice, Reinhard, 2017

• Elevated Expression of Moesin in Muscular Dystrophy, Pines, 2017

• Absence of microRNA-21 does not reduce muscular dystrophy in mouse models of LAMA2-CMD, Oliveira, 2017

• Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy, Nunes, 2017

• Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two year analysis, Nichols, 2017

• Potent pro-inflammatory and pro-fibrotic molecular, osteopontin and galactic-3, are not major disease modulators of laminin a2 chain-deficient muscular dystrophy, Gawlik, 2017

• Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy, Kim, 2017

• Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin a2-related dystrophy, Meilleur, 2017

• Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype, McKee, 2017

• Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report, Liang, 2017

• Peripheral nerve injury in LAMA2-related congenital muscular dystrophy patients, Liang, 2017

• Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan, Liang, 2017

• Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism, Kemaladewi, 2017

• A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient, Kubota, 2017

• Muscular dystrophy meets protein biochemistry, the mother of invention, Funk, 2017

• Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. Fontes-Oliveira, 2017

• Child Neurology: LAMA2 muscular dystrophy without contractures, Dean, 2017

• Caudal block combined with propofol infusion using laryngeal mask airway in a spontaneously ventilating child with merosin-positive occidental type congenital muscular dystrophy, Tuncali, 2016

• Congenital muscular dystrophy with inflammation: Diagnostic considerations, Konkay, 2016

• Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations, Harris, 2016

• Bortezomib Does Not Reduce Muscular Dystrophy in the dy.sup.2Jdy.sup.2J Mouse Model of Laminin a2 Chain-Deficient Muscular Dystrophy, Korner, 2016

• Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient, Bhowmik, 2016

• Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy, Bendixen, 2016

• IGF-1/GH axis enhances losartan treatment in Lama2-related muscular dystrophy, Accorsi, 2016

• LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies, Lokken, 2015

• Merosin-negative congenital muscular dystrophy- Report of five cases, Incecik, 2015

• Merosin-deficient congenital muscular dystrophy-A novel homozygous mutation in the laminin-2 gene, Turner, 2015

• Laminin-a2 Chain-Deficient Congenital Muscular Dystrophy- Pathophysiology and Development of Treatment, Durbeej, 2015

• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies, Meilleur, 2014

• Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A, Yamauchi, 2013

• Skeletal muscle laminin and MDC1A- pathogenesis and treatment strategies, Gawlik, 2011

• Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations, Geranmayeh, 2010

• Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for a2 chain of laminin), Allamand, 2002

Limb-Girdle Muscular Dystrophy

​​​

• Limb-girdle muscular dystrophies (LGMDs) Fact Sheet, 2008

• The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle macular weakness and Pompe disease, Bevilacqua, 2020

• Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report, Strafella, 2019

• Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T, Tian, 2019

• Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey, Yis, 2019

• Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies, Ozyilmaz, 2019

• Cervical Hyperextension Deformity After Sagittal Balance Correction in Patient with Congenital Limb-Girdle Myopathy: Surgical Technique and Review of Literature, Fahed, 2019

• Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients, Xie, 2019

• Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy, El-Battrawy

• Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D (LGMD2D), Mendell, 2019

• Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients, Nallamilli, 2018

• Cervical hyperextension deformity following sagittal balance correction in a patient with Congenital Limb Girdle Myopathy: Surgical technique and review of the literature, Fahed, 2018

• Limb girdle muscular dystrophies - Nomenclature and reformed muscular dystrophies, Straub, 2017

• The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients, Wang, 2018

• The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, Magri, 2017

• Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of†limb girdle muscular dystrophy 2i, Maricelli, 2017

LMNA & EDMD​

• Exercise is Associated With Impaired Left Ventricular Systolic Function in Patients With Lamin A/C Genotype, Skjolsvik, 2020

• Relationship between infrared skin radiation and muscular strength tests in patients affected by Emery-Dreifuss muscular dystrophy, Cabizosu, 2020

• Novel candidate alleles associated with gene regulation for Emery Dreifuss muscular dystrophy, Xiong, 2020

• Research on the knockout of LMNA gene by CRISPR/Cas9 system in human cell lines, Liu, 2019

• Importance of early diagnosis in LMNA related muscular dystrophy for cardiac surveillance, Choi, 2019

• Restoration of Global Sagittal Alignment After Surgical Correction of Cervical Hyperlordosis in a Patient with Emery-Dreifuss Muscular Dystrophy: A Case Report, Diebo, 2019

• Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine, Papadopoulos, 2019

• Expression of Lmna-R225X nonsense mutation results in dilated cardiomyopathy and conduction disorders (DCM-CD) in mice: Impact of exercise training, Cai, 2019

• Cardiac and Neuromuscular Features of Patients with LMNARelated Cardiomyopathy, Peretto, 2019

• A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism, Meinke, 2019

• Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death, Yokoawa, 2019

• Emery-Dreifuss Muscular Dystrophy, Heller, 2019

• Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells, Earle, 2019

• Antepartum Diagnosis and Management of Lamin A/C Disease,  Reza, 2019

• A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death, Kong, 2019

• ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy, Antoku, 2019 

• Inspiratory muscle training for advanced heart failure with lamin related muscular dystrophy, Taya, 2019

• Lamin A/C Cardiomyopathy: Implications for Treatment, Chen, 2019

• Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset, Ditaranto, 2019

• Cardiac manifestations in Emery–Dreifuss muscular dystrophy, Faiella, 2019

• Lamin A/C promotes DNA base excision repair, Maynard, 2019

• Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity, Makarov, 2019

• A novel emerin gene mutation in Emery Dreifuss muscula dystrophy patient with spontaneous chordae tendinae rupture, Pancheri, 2019

• Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes, Bernasconi, 2019

• Emery Dreifuss Muscular Dystrophy, Bonne, 2019

• The importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance, Choi, 2019

• Emery-Dreifuss muscular dystrophy: focal point nuclear envelope, Muchir, 2019

• Challenging the "chromatin hypothesis" of cardiac laminopathies with LMNA mutant iPS cells, Mozzetta, 2019

• Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mic, Wada, 2019

• X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures, Brisset 2019

• Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies, Wahbi, 2019

• LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability, Cotta, 2019

• A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes, Park, 2019

• Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy, Lee, 2019

• Identification of COMMD1 as a novel lamin A binding partner, Jiang, 2019

• Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation, Thomasson, 2019

• Unweaving the role of nuclear Lamins in neural circuit integrity, Deal, 2019

• Modeling of LMNA-Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cells, Shah, 2019

• Mutant lamins cause mechanically-induced nuclear envelope rupture, DNA damage, and DNA-PK activation in muscle, Earle, 2019

• MON129 An Unusual LMNA Mutation Causing a Complex Phenotype: When the Genetic Diagnosis Uncovers Novel Features, Andrada, 2019

• Cellular and Animal Models of Striated Muscle Laminopathies, Nicolas, 2019

• Postnatal Development of Mice with Combined Genetic Depletions of Lamin A/C, Emerin and Lamina-associated Polypeptide 1, Wang, 2019

• DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated with Lamin A/C Mutations, Chen, 2019

• Genomic Reorganization of Lamin-Associated Domains in Cardiac Myocytes is Associated with Differential Gene Expression and DNA Methylation in Human Dilated Cardiomyopathy, Cheedipudi, 2019

• Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients, Dubinska-Magiera, 2019

• Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients, Kolbel, 2019

• Emery Dreifuss muscular†dystrophy type 4 A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related† pastic diplegia, DiStolfo, 2019

• Characteristics of ventricular tachycardia and long-term treatment outcome in patients with dilated cardiomyopathy complicated by lamin A/C gene mutations, Hasebe, 2019

• Is infrared thermography (IRT) a possible tool for the evaluationand follow up of Emery-Dreifuss muscular dystrophy? Apreliminary study, Cabizosu, 2019

• Cellular and Animal Models of Striated Muscle Laminopathies, Nicolas, 2019

• The Cutting Edge: The Role of mTOR Signaling in Laminopathies, Chiarini, 2019

• Deciphering Nuclear Mechanobiology in Laminopathy, Hah, 2019

• Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy, Mio, 2019

• The Cutting Edge: The Role of mTOR Signaling in Laminopathies, Chiarini, 2019

• Statins and Histone Deacetylase Inhibitors Affect Lamin A/C – Histone Deacetylase 2 Interaction in Human Cells, Mattioli, 2019

• Cardiac manifestations in Emery–Dreifuss muscular dystrophy, Faiella, 2018

• SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells, Janin, 2018

• Cell signaling abnormalities in cardiomyopathy caused by Lamin AC gene mutations, Worman, 2018

• N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A type lamins gene, Rodriquez, 2018

• Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics, Crasto, 2018

• Lamin and the heart, Capture, 2018

• The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype, Gonzales-Cruz, 2018

• Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies, Wang, 2018

• The Emerging Role of Lamin C as an Important LMNA Isoform in Mechanophenotype, Gonzalez-Cruz, 2018

• Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient, Shimojima, 2018

• Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations, Steele-Stallard, 2018

• Laminopathies: The molecular background of the disease and the prospects for its treatment, Zaremba-Czogalla, 2018

• Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature, Captur, 2018

• The Pathogenesis and Therapies of Striated Muscle Laminopathies, Brull, 2018

• Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants, Van Tienen, 2018

• Mouse models of nesprin-related diseases, Zhou, 2018

• Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene, Sivitskaya, 2018

• Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation, Gulata, 2018

• Genetic mutation of familial dilated cardiomyopathy based on nextgeneration semiconductor sequencing, 2018, Lin

• Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy, Mattioli, 2018

• Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies, Gerbino, 2018

• Emery-Dreifuss Muscular Dystrophy-Related Myopathy with TMEM43 Mutations, Mukai, 2018

• Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation, Kwapich, 2018

• Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles, Janin, 2018

• Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy, Niebroj-Dobosz, 2018

• Complex effects of laminopathy mutations on nuclear structure and function, Ho, 2018

• Lamins and nesprin1 mediate inside out mechanical coupling in muscle cell precursors through FHOD1, Schwartz, 2018

• Single molecule analysis of lamin dynamics, Serebrvannyy, 2018

• Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases, Samson, 2018

• Obesity and pericallosal lipoma in Xlinked Emery Dreifuss muscular dystrophy: A case report Does Emerin play a role in adipocyte differentiation?, Spanu, 2018

• Genetics of Dilated Cardiomyopathy: Clinical Implications, Paldino, 2018

• Rescue of biosynthesis of nicotinamide adenine dinucleotide (NAD+) protects the heart in cardiomyopathy caused by lamin A/C gene mutation, Vignier, 2018

• A novel LMNA†mutation identified in a Japanese patient with LMNA associated congenital muscular dystrophy, Ishiyama, 2018

• Muscle imaging in laminopathies: synthesis study identifies meaningful muscles for follow-up, Quijano-Roy, 2018 

• Lamin A, Chromatin and FPLD2: Not Just a Peripheral Ménage-à- Trois, Briand, 2018

• Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy, Zahr, 2018

• Obesity and pericallosal lipoma in Xlinked emery dreifuss muscular dystrophy: A case report Does Emerin play a role in adipocyte differentiation?, Spanu, 2018

• Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography, Cabizosu, 2018

• Identification of a LMNA (c.646C > T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM, Chen, 2018

• Plasma microRNAs as biomarkers for Lamin A/C related dilated cardiomyopathy, Toro, 2018

• Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNARelated Muscular Dystrophy, Lin, 2018

• Updated Clinical Overview on Cardiac Laminopathies: An Electrical and Mechanical Disease, Peretto, 2018

• Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies, Cappellett, 2018

• Microtubule cytoskeleton regulates connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in Atypelamins gene, Macquart, 2018

• Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy, Lin, 2018

• Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts, Dubose, 2018

• Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation, Chatzifrangkeskou, 2018

• Insight into the functional organization of nuclear lamins in health and disease, Tatli, 2018

• Lamins and bone disorders: current understanding and perspectives, Gargiuli, 2018

• Laminopathies; Mutations on single gene and various human genetic diseases, Kang, 2018

• OGT (O-GlcNAc Transferase) Selectively Modifies Multiple Residues Unique to Lamin A, Simon, 2018

• Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene, Sivitskaya,  2018

• Cardiomyopathy with LMNA Mutation, Ito, 2018

• Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy, Fayssoil, 2018

• Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects,pathophysiological hypotheses and therapeutic perspectives, Guillín-Amarelle, 2018

• Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects,pathophysiological hypotheses and therapeutic perspectives, Vigouroux, 2018

• Evidence that S6K1, but not 4E-BP1, mediates skeletal muscle pathology associated with loss of A-type lamins, Chen-Yu, 2018

• Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous, Adrea, 2018

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018

• Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiationand fibrogenic processes, Bemasconi, 2018

• Correction for DuBose et al., Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts, Dubose, 2018

• Elevated dual specificity protein phosphatase 4 in cardiomyopathy caused by lamin A/C gene mutation is primarily ERK1/2-dependent and its depletion improves cardiac function and survival, Choi, 2018

• SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells, Janin, 2018.

• Clinical aspects of Emery-Dreifuss muscular dystrophy, Madej-Pilarczyk, 2018

• Upregulation of the aging related LMNA splice variant progerin in dilated cardiomyopathy, Messner, 2018

• A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy, Kawakami, 2018

• A novel feature extraction technique for pulmonary sound analysis based on EMD, Mondal, 2018

• Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy, Azibani, 2018

• Lamins and Lamin-associated Proteins in Gastrointestinal Health and Disease, Brady, 2018

• Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation, Briand, 2018 

• Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy, Azibani, 2018

• Mutations in INPP5K, Encoding a Phosphoinositide 5Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment, Wiessner, 2017

• The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, Magri, 2017

• Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing, Ito, 2017

• Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study, Ollila, 2017

• Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies, Madej-Pilaraczy, 2017

• Nuclear lamin A/C harnesses the perinuclear apical actin cables to protect nuclear morphology, Kim, 2017 Specific activation of PLEKHG2-induced serum response element dependent gene transcription by four-and-a-half LIM domains (FHL) 1, but not FHL2 or FHL3, Nishikawa, 2017

• Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers, Nishiuchi, 2017

• Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene, Marian, 2017

• Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies, Wang, 2017

• Early-Onset LMNA-Associated Muscular Dystrophywith Later Involvement of Contracture, Yurchenco, 2017

• Laminin-deficient muscular dystrophy: Molecular pathogenesis and structural repair strategies, Yurchenco, 2017

• Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C, Patni, 2017

• Clinical disease presentation and ECG characteristics of LMNA mutation carriers, Ollila, 2017

• Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy, Niebroj-Dobosz, 2017

• Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function, Morelli, 2017

• Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis, Zhou, 2017

• The lamin code, Miraldi, 2017

• Comprehensive target capture/next-generation sequencing as a secondtier diagnostic approach for congenital muscular dystrophy in Taiwan, Liang, 2017

• Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene, Le Dour, 2017

• Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation, Hoorntje, 2017

• Emery-Dreifuss Muscular Dystrophy-linked genes and Centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms, Collins, 2017

• Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes, Francisco, 2017

• A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion ofthe clinical and mutational spectrum and description of the natural history, Giunta, 2017

• Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations, Core, 2017

• Current insights into LMNA cardiomyopathies: Existing models and missing LINCs, Brayson, 2017

• Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotypephenotype correlation, Baumann, 2017

• Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient, Barateau, 2017

• A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus, Barateau, 2017

• Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells, Lee, 2017

SEPN1

​

• SEPN1 related myopathies Fact Sheet, 2014

• Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies, Bachmann, 2019

• SELENON SEPN1 protects skeletal muscle from saturated fatty acidinduced ER stress and insulin resistance, Varone, 2019

• A maladaptive ER stress response triggers dysfunction in highly active muscles of mice with SELENON loss​ Pozzer, 2019

• A novel mutation in SEPN1 causing rigid spine muscular dystrophy a Case report, Ziyaee, 2019

• High glucose and TGF-β1 reduce expression of endoplasmic reticulum-resident selenoprotein S and selenoprotein N in human mesangial cells, Huang, 2019

• Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies, Bachmann, 2019

• SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance, Varonee, 2019

• Se Regulates the Contractile Ability of Uterine Smooth Musclevia Selenoprotein N, Selenoprotein T, and Selenoprotein Win Mice, 2019, Wang

• A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report, Ziyaee,2019

• A maladaptive ER stress response triggers dysfunction in highly active muscles of mice with SELENON loss, Pozzer, 2018

• SEPN1-related Rigid Spine Muscular Dystrophy, Saini, 2018

• A child diagnosed with rigid spine syndrome complicated by ventilatory disorders: a nursing case report, Lu, 2018

• Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy, Kazamel, 2018

• SEPN1-related Rigid Spine Muscular Dystrophy, Saini, 2018

• Damage to the myogenic differentiation of C2C12 cells by heat stress is associated with up-regulation of several selenoproteins, Tang, 2018

• Severe loss of semimembranosus muscle bulk is an early phenomenon in SEPN1-related muscle disorders: toward early recognition of early-onset muscle disorders by imaging, Munell, 2018

• New Insights into cellular functions SEPN1-related myopathy is a systemic metabolic disease: selenoprotein N maintains endoplasmic reticulum-mitochondrial interaction and regulates mitochondrial bioenergetics, Ferreiro, 2018

•  Jiayong Tang1,2, Aihua  He1, Hui  Yan3, Gang

• Gga-let-7f-3p promotes apoptosis in selenium deficiency-induced skeletal muscle by targeting selenoprotein K, Fan. 2018

• Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity,  Tordjman, 2018

• Respiratory muscle contractile inactivity induced by mechanical ventilation in piglets leads to leaky ryanodine receptors and diaphragm weakness, Matecki, 2018

• STAC3 incorporation into skeletal muscle triads occurs independent of the dihydropyridine receptor, Campiglio, 2018

• Ryanodine receptor Ca release channel post-translational modification: Central player in cardiac and skeletal muscle disease, Denniss, 2018

• Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions, Fradejas-Villar, 2018

• Emerging roles of endoplasmic reticulum-resident selenoproteins in the regulation of cellular stress responses and the implications for metabolic disease, Addinsall, 2018

• Muscle MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity, Tordjman, 2018

• Efficient high-throughput screening by ER Ca measurement to identify inhibitors of ryanodine receptor Ca2+-release channels, Murayama, 2018

• Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction, Jungbluth, 2018

• Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies, Viprey, 2017

• Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies, Moulin, 2017

• Diaphragmatic dysfunction in SEPN1-related myopathy, Caggiano, 2017

• Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination, Chowdhury, 2017

• Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives, Traves, 2017

• Antioxidant Treatment Reduces Formation of StructuralCores and Improves Muscle Function in RYR1Y522S/WT Mice, Michelucci, 2017

• Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early onset myopathies, Moulin, 2017

• Hereditary myopathies with early respiratory insufficiency in adults, Naddaf, 2017

• Gene expression of selenoproteins can be regulated by thioredoxin(Txn) silence in chicken cardiomyocytes, Yang, 2017

• Endoplasmic reticulum-resident selenoproteins as regulators of calcium signaling and homeostasis, Pitts, 2017

• Endoplasmic reticulum chaperones tweak the mitochondrial calcium rheostat to control metabolism and cell death, Gutierrez, 2017

• Diaphragmatic dysfunction in SEPN1-related myopathy, Caggiano, 2017

• SEPN1-related myopathies- Clinical course in a large cohort of patients, Scoto, 2011

• The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy, Schara, 2008

• Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, Moghadazadeh, 2001