General Information

​

• 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

• Whole Exome Analyses of Congenital Muscular Dystrophy and Congenital Myopathy Patients from India Reveal a Wide Spectrum of Known and Novel Mutations, Sanga, 2020

• Heart Transplantation in Muscular Dystrophy Patients: Is it a Viable Option?, Wells, 2020

• Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring, Koutsoulidou, 2020

• Assessing Motor-Function in Congenital Muscular Dystrophy Patients Using Accelerometry, Lawai, 2020

• Myopathies with Finger Flexor Weakness: Not Only Inclusion-Body Myositis, Nicolau, 2020

• Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry, Lawal, 2020

• Update on Muscular Dystrophies with Focus on Novel Treatments and Biomarkers, Datta,  2020

• Towards stem cell therapies for skeletal muscle repair, Judson, 2020

• Targeted Treatments for Inherited Neuromuscular Diseases of Childhood, Fay, 2020

• Peak Cough Flow in Children with Neuromuscular Disorders, Kotwai, 2020

• 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

• Muscle Wasting Diseases: Novel Targets and Treatments, Furrer, 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

• 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

• Palliative care in neuromuscular diseases, de Visser, 2017

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

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

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

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