Journal of Neuromuscular Diseases

Papers
(The median citation count of Journal of Neuromuscular Diseases is 2. 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
Current View of Diagnosing Small Fiber Neuropathy34
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials34
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
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls26
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
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine24
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy24
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
Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner18
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
Interrogation of Dystrophin and Dystroglycan Complex Protein Turnover After Exon Skipping Therapy17
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy17
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
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
Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’15
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study15
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany14
Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience14
The Satellite Cell at 60: The Foundation Years13
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
Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review12
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
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
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
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy10
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
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
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
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies8
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies8
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives7
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan7
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
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
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
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 15
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder5
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation5
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
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development5
Cerebrospinal Fluid Protein Level and Mechanical Ventilation in Guillain-Barré Syndrome patients5
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
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study5
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis5
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
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge4
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy4
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience4
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes4
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene4
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy4
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases4
Thigh and Leg Muscle MRI Findings in GNE Myopathy4
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy4
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20224
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy4
Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?4
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis4
Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy14
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy4
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India4
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic4
Histological Analysis of Tibialis Anterior Muscle of DMDmdx4Cv Mice from 1 to 24 Months4
Early Gross Motor Milestones in Duchenne Muscular Dystrophy4
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy4
Multifocal Noninvasive Magnetic Stimulation of the Primary Motor Cortex in Type 1 Myotonic Dystrophy –A Proof of Concept Pilot Study4
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study4
Evaluation of the Lipid-binding Properties of Recombinant Dystrophin Spectrin-like Repeat Domains R1-34
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders4
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen4
Fracture Risk in Patients with Myasthenia Gravis: A Population-Based Cohort Study4
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort4
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening4
16th International Congress on Neuromuscular Diseases, 21 - 22 & 28 - 29 May 2021 Virtual, Worldwide4
Slowly Progressive Limb-Girdle Weakness and HyperCKemia – Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?4
Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy4
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen4
Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments3
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’3
Nerve Conduction Differences in a Large Clinical Population: The Role of Age and Sex3
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy3
Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions3
On the use of D2.B10-Dmdmdx/J (D2.mdx) Versus C57BL/10ScSn-Dmdmdx/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note from Members of the TREAT-NMD Advisory 3
Plasma Creatinine Level Does Not Predict Respiratory Function in Amyotrophic Lateral Sclerosis3
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy3
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance3
Characterizing the Occurrence of Key Clinical Milestones in Duchenne Muscular Dystrophy in the United States Using Real-World Data3
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related3
Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy3
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids3
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 13
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review3
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy3
Andersen-Tawil Syndrome Presenting with Complete Heart Block3
Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study3
Compliance to DMD Care Considerations in the Netherlands3
Transcutaneous Carbon Dioxide Measurement in Adult Patients with Neuromuscular Disorders: A quality Level Assessment3
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 13
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy3
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature3
Development of an International SMA Bulbar Assessment for Inter-professional Administration3
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA32
Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet)2
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence2
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany2
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) – Therapy Guidelines2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 12
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis2
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 20192
Sharing “Negative” Results in Neuromuscular Research: A Positive Experience2
Inspiratory Muscle Training in Nemaline Myopathy2
Vasculitic Peripheral Neuropathy, Differences Between Systemic and Non-Systemic Etiologies: A Case Series and Biopsy Report2
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 12
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort2
Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 20202
Effects of Chronic, Maximal Phosphorodiamidate Morpholino Oligomer (PMO) Dosing on Muscle Function and Dystrophin Restoration in a Mouse Model of Duchenne Muscular Dystrophy2
Iranian Registry of Duchenne and Becker Muscular Dystrophies: Characterization and Preliminary Data2
COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome2
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes2
Characterization of Adult Patients With SMA Treated in US Hospital Settings: A Natural History Study in the Premier Healthcare Database2
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures2
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?2
The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands2
Findings from the Longitudinal CINRG Becker Natural History Study2
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases2
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting2
Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing2
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data2
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy2
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy2
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study2
Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines2
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes2
Multiple Case Study of Changes in Participation of Adults with Myotonic Dystrophy Type 1: Importance of Redesigning Accomplishment and Resilience2
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients2
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review2
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models2
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review2
Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies2
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study2
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA2
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity2
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations2
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys2
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India2
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients2
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