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 2021-10-01 to 2025-10-01.)
ArticleCitations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy146
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report83
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort71
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function59
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’50
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan39
The continued promise of genomic technologies and software in neurogenetics38
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report38
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 Tract37
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions36
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers34
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset31
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants30
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review30
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype29
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient28
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis27
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study27
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy25
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant23
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study22
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 121
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders21
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India20
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’19
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review19
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 117
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 417
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy17
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?17
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment16
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data16
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 216
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy15
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies15
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis15
The Satellite Cell at 60: The Foundation Years15
Rehabilitation research in spinal muscular atrophy: a call to action14
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy14
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures13
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy13
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy13
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review13
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen13
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.12
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy12
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies12
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing12
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study12
Mutational and clinical spectrum of myofibrillar myopathy in one center from China12
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting12
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes12
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases11
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function11
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease11
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence11
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches11
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy11
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
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study10
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development10
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?9
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen9
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan9
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases9
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data9
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy9
Development of an International SMA Bulbar Assessment for Inter-professional Administration9
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’8
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations8
Modelling mitochondrial diseases in neurons In Vitro : A systematic review8
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle8
Gene Therapy for Duchenne Muscular Dystrophy8
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion8
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 67
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy7
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany7
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy7
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice7
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy7
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life7
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing7
A model to predict the 6-Minute Walk Distance in Pompe disease7
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids6
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20226
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling6
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility6
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease6
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea6
Asymptomatic and oligosymptomatic states of dysferlinopathy6
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?6
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data6
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)6
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results6
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial6
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy6
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients6
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy6
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults6
How Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 20216
0.078908205032349