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 2021-12-01 to 2025-12-01.)
ArticleCitations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy63
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report52
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort47
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan47
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function40
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report39
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 Tract38
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers35
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset30
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients30
The continued promise of genomic technologies and software in neurogenetics30
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants29
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions29
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype28
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review27
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient25
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study23
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’21
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant21
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders20
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India20
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy19
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review18
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study18
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 118
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)17
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy17
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis17
Role of next generation sequencing in neonatal diagnosis and screening17
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 417
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy16
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment16
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies15
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting15
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis15
Rehabilitation research in spinal muscular atrophy: a call to action14
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy14
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 213
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy13
Abstracts from the MYO-MRI+ 2025 | Imaging in Neuromuscular Disease Conference13
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy12
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?12
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen12
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures12
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data12
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review12
Mutational and clinical spectrum of myofibrillar myopathy in one center from China11
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing11
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence11
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.11
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function11
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States11
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study11
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies11
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease10
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America10
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases10
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy10
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study10
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches10
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy9
Development of an International SMA Bulbar Assessment for Inter-professional Administration9
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 20219
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion9
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development9
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire8
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis8
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations7
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’7
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy7
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?7
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review7
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 67
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies7
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy7
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy7
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases7
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping7
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
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy6
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility6
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids6
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling6
Asymptomatic and oligosymptomatic states of dysferlinopathy6
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20226
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment6
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)6
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease6
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients6
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data6
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