Disease: Congenital Muscular dystrophy
- <em>LAMA2</em>-Related Muscular Dystrophy Across the Life Span: A Cross-sectional Study
- A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report
- A new mutation in the <em>CAVIN1/PTRF</em> gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature
- A pilot study of an integrated, personalized, respiratory and motor telerehabilitation program for pediatric patients with hereditary neuromuscular disorders
- A retrospective audit of young adults who received permanent pacemakers at a teaching hospital in the Western Cape, South Africa
- Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
- Agenesis of Pectoralis Major Muscle in Late-Onset <em>GFPT1</em>-Related Congenital Myasthenic Syndrome: A Case Report
- Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome: A Case Report
- Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
- Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)
- Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
- Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study
- Branchpoints as potential targets of exon-skipping therapies for genetic disorders
- Case report: Novel frameshift mutation in <em>LAMA2</em> gene causing congenital muscular dystrophy type 1A
- Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy
- Chronic Neurological Disorders and Predisposition to Severe COVID-19 in Pediatric Patients in the United States
- Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
- Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes
- Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
- Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy
- Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
- Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets
- Early Introduction of Power Mobility Devices for Children with Fukuyama Congenital Muscular Dystrophy and Its Psychological Impact on Caregivers: A Case Report
- Endogenous reductase activities for the generation of ribitol-phosphate, a CDP-ribitol precursor, in mammals
- Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
- Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
- Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders
- Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
- Fenestration: Integrating Wings Into the Atrial Septal Occluder for Navigating a Challenging Terrain
- Gastrointestinal and nutritional care in pediatric neuromuscular disorders
- Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation
- Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene
- Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A)
- Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
- Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
- Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels
- Improved efficacy of FKRP AAV gene therapy by combination with ribitol treatment for LGMD2I
- Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
- Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
- Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy
- Knockdown of INPP5K compromises the differentiation of N2A cells
- Left ventricular deformation and myocardial fibrosis in pediatric patients with Duchenne muscular dystrophy
- Left ventricular strain-volume loops and myocardial fibrosis in pediatric patients with Duchenne muscular dystrophy
- Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives
- MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
- Microtubular network and functionality of the striated skeletal muscle
- Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
- Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies
- Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Myelin abnormalities in merosin-deficient congenital muscular dystrophy
- Neonatal and infantile hypotonia
- Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy
- Neuromuscular disease genetics in underrepresented populations: increasing data diversity
- New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
- Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy
- Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
- Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy
- Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
- Pediatric Neuromuscular Diseases
- Prevalence and severity of sinus tachycardia and arrhythmias by Holter monitoring in children with Duchenne muscular dystrophy
- Protein O-mannosylation: one sugar, several pathways, many functions
- Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells
- Proximal myopathy: causes and associated conditions
- Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
- Recessive Pathogenic <em>GMPPB</em> Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine
- Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
- Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
- Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
- Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
- Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy
- Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
- Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB
- Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in <em>COL6A2</em> Gene Causes Recessive UCMD
- Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
- Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
- Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
- The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
- Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy
- Timed rolling and rising tests in Duchenne muscular dystrophy ambulant boys: a feasibility study
- TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
- Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy
- Variants in <em>CLCN1</em> and <em>PDE4C</em> Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs
- Volume assured pressure support mode use for non-invasive ventilation in pediatrics
- Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
- Zebrafish and cellular models of <em>SELENON</em>-Related Myopathy exhibit novel embryonic and metabolic phenotypes