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 2022-01-01 to 2026-01-01.)
ArticleCitations
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report65
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort52
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy50
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function48
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan41
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 Tract40
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report40
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers35
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients31
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype30
The continued promise of genomic technologies and software in neurogenetics30
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset30
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions29
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants28
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
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant22
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India21
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders21
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’20
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review19
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study19
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy18
Role of next generation sequencing in neonatal diagnosis and screening18
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis18
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)18
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy17
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy17
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment17
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 417
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis16
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy15
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen15
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies15
Abstracts from the MYO-MRI+ 2025 | Imaging in Neuromuscular Disease Conference14
Rehabilitation research in spinal muscular atrophy: a call to action14
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy14
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?13
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 213
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy13
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review13
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data13
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting12
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy12
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States12
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study12
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing12
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function12
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes12
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures12
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.12
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence12
Mutational and clinical spectrum of myofibrillar myopathy in one center from China11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease11
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy11
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies11
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America11
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases10
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 202110
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis10
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study10
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development10
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy10
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
Development of an International SMA Bulbar Assessment for Inter-professional Administration9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion9
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?9
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations9
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan8
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales8
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review7
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’7
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
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life7
A model to predict the 6-Minute Walk Distance in Pompe disease7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping7
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
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy7
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
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review7
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle7
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen7
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire7
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA)7
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?7
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy7
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids6
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models6
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)6
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
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment6
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults6
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies6
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
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease6
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI6
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