Journal of Neuromuscular Diseases

Papers
(The TQCC of Journal of Neuromuscular Diseases is 5. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
Gene Therapy for Duchenne Muscular Dystrophy92
Molecular Mechanisms of Skeletal Muscle Hypertrophy84
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial52
Exon-Skipping in Duchenne Muscular Dystrophy49
Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience46
Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy39
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy37
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials34
Current View of Diagnosing Small Fiber Neuropathy34
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada31
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment29
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy27
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience26
Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases26
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls26
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy24
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine24
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?23
Current Therapeutic Approaches in FSHD22
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)20
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module20
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report19
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy18
Clinical Experience with Eculizumab in Treatment-Refractory Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis18
Quantitative Muscle-MRI Correlates with Histopathology in Skeletal Muscle Biopsies18
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen18
Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner18
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy17
Interrogation of Dystrophin and Dystroglycan Complex Protein Turnover After Exon Skipping Therapy17
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen16
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’16
The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry16
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study16
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial16
Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’15
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study15
Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience14
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany14
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore13
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD13
The Satellite Cell at 60: The Foundation Years13
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials12
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?12
Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review12
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy11
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study11
Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 111
Orphan Peripheral Neuropathies11
Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance11
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy10
California’s experience with SMA newborn screening: A successful path to early intervention10
The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy10
Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy10
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?110
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy10
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation9
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment19
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era9
The Effect of Immunomodulatory Treatments on Anti-Dystrophin Immune Response After AAV Gene Therapy in Dystrophin Deficient mdx Mice9
Oxaliplatin Neuropathy: Predictive Values of Skin Biopsy, QST and Nerve Conduction9
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, 20219
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’9
Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy9
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy9
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry9
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies8
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies8
Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial7
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’7
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches7
The Treatabolome, an emerging concept7
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives7
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan7
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy6
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 26
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method6
Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022)6
Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence6
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease6
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study6
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire6
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies6
Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits6
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells6
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review6
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development5
Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 – June 27, 20195
Photovoice as a Participatory Research Tool in Amyotrophic Lateral Sclerosis5
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI5
Cerebrospinal Fluid Protein Level and Mechanical Ventilation in Guillain-Barré Syndrome patients5
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study5
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey5
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients5
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 15
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis5
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder5
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review5
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness5
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation5
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