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 2022-05-01 to 2026-05-01.)
ArticleCitations
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan63
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort57
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy55
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 Tract50
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review47
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers36
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report34
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients31
The continued promise of genomic technologies and software in neurogenetics28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset27
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype25
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions24
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study24
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India23
Role of next generation sequencing in neonatal diagnosis and screening22
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy22
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy22
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review22
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis21
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study21
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant19
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 119
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 119
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient19
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy18
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’17
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders16
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)16
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment15
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 215
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies15
Abstracts from the MYO-MRI+ 2025 | Imaging in Neuromuscular Disease Conference15
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy15
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data14
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?14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy14
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis14
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting14
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures14
Rehabilitation research in spinal muscular atrophy: a call to action14
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review13
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy13
Mutational and clinical spectrum of myofibrillar myopathy in one center from China13
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen13
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing12
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.12
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study12
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy12
Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA12
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes12
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy11
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease11
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States11
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI11
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America11
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study11
Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study11
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review10
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development10
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 202110
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales10
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases10
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy10
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion9
Development of an International SMA Bulbar Assessment for Inter-professional Administration9
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy9
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review8
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan8
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases8
A model to predict the 6-Minute Walk Distance in Pompe disease8
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations8
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study8
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy7
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy7
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity7
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies7
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review7
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping7
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models7
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany7
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling7
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA)7
Asymptomatic and oligosymptomatic states of dysferlinopathy7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 67
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life7
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI6
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults6
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility6
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study6
Ecosystem Requirements for E-Health and Digital Monitoring in Neuromuscular Disorders6
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results6
Abstracts of the 19 th UK Neuromuscular Translational Research Conference 17 th and 18 6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea6
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant6
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies6
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20226
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