Journal of Neuromuscular Diseases

Papers
(The TQCC of Journal of Neuromuscular Diseases is 6. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-08-01 to 2026-08-01.)
ArticleCitations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy67
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort63
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan56
Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions41
The continued promise of genomic technologies and software in neurogenetics38
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers38
Meeting report: Translating exercise research in dystrophinopathy to the clinic32
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype30
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report29
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset27
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review26
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract25
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review24
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy24
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients24
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study24
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 123
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy21
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient21
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis20
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study20
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)19
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders18
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India18
Role of next generation sequencing in neonatal diagnosis and screening18
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’17
Rehabilitation research in spinal muscular atrophy: a call to action16
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies16
Abstracts from the MYO-MRI+ 2025 | Imaging in Neuromuscular Disease Conference16
Time-efficient coronal MRI reflects clinical and pathological features of myopathies16
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 216
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis15
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?15
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment15
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review15
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen15
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy15
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy14
Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA14
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures14
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy14
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data14
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States13
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study13
Mutational and clinical spectrum of myofibrillar myopathy in one center from China13
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy13
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies13
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing13
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function13
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy12
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America12
Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study12
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study12
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI12
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development11
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease11
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review11
Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 202611
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis10
Predictors of relapses in patients with chronic inflammatory demyelinating polyneuropathy receiving subcutaneous immunoglobulin therapy – a post-hoc analysis10
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy10
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan10
Development of an International SMA Bulbar Assessment for Inter-professional Administration9
Modelling mitochondrial diseases in neurons In Vitro : A systematic review9
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen9
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations9
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases9
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales9
A model to predict the 6-Minute Walk Distance in Pompe disease9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion9
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA)8
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy8
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 68
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?8
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’8
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping8
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany8
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies8
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy8
Determinants of hepatic enzyme elevations following onasemnogene abeparvovec: Results from a unified immunomodulation protocol8
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review8
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing8
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study8
Phenotype Genotype Characterization of FKRP -related Muscular Dystrophy among Indian Patients7
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies7
Muscle Ultrasound Abnormalities in Individuals with RYR1 -Related Malignant Hyperthermia Susceptibility7
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy7
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20227
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models7
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study7
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data7
Asymptomatic and oligosymptomatic states of dysferlinopathy7
Abstracts of the 19 th UK Neuromuscular Translational Research Conference 17 th and 18 7
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity7
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease7
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life7
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant6
Fibrotic differentiation profile of skeletal and cardiac muscle fibroadipogenic progenitors in D2-mdx mouse6
Newborn screening programs for spinal muscular atrophy worldwide in 20236
State of the art: Pregnancy in spinal muscular atrophy in the treatment era6
Myotonic dystrophy family registry. The patient experience6
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Me6
Ecosystem Requirements for E-Health and Digital Monitoring in Neuromuscular Disorders6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults6
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI6
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy6
Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 16
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?6
Advancing neuromuscular disease research through real-world data: Challenges and lessons learned6
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease6
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe6
Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report6
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis6
Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis6
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