OOIR: Observatory of International Research

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 2020-03-01 to 2024-03-01.)

Article	Citations
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2	81
Gene Therapy for Duchenne Muscular Dystrophy	65
Molecular Mechanisms of Skeletal Muscle Hypertrophy	62
Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy	50
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial	46
Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report	38
Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience	38
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?1	35
Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy	34
COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome	34
Exon-Skipping in Duchenne Muscular Dystrophy	33
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy	29
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada	27
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy	25
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study	25
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD	25
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment	24
Current View of Diagnosing Small Fiber Neuropathy	24
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials	23
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls	22
Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience	22
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine	19
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy	19
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy	19
Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases	18

Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study	17
Current Therapeutic Approaches in FSHD	17
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort	17
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design	17
Pseudoexons of the DMD Gene	17
Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner	16
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module	16
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review	16
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	16
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy	15
Clinical Experience with Eculizumab in Treatment-Refractory Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis	15
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report	15
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies	15
The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry	15
Quantitative Muscle-MRI Correlates with Histopathology in Skeletal Muscle Biopsies	14
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen	14
Interrogation of Dystrophin and Dystroglycan Complex Protein Turnover After Exon Skipping Therapy	13
Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’	13
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants	12
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen	12
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial	12
Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience	12
Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy	11
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy	11
The Satellite Cell at 60: The Foundation Years	11
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials	10
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study	10
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore	10
Orphan Peripheral Neuropathies	10
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	10
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy	10
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy	9
Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1	9
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)	9
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?	9
The Effect of Immunomodulatory Treatments on Anti-Dystrophin Immune Response After AAV Gene Therapy in Dystrophin Deficient mdx Mice	9
Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy	9
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	9
Use of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance	9
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD	8
Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype	8
Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review	8
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study	8
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations	8
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy	8
Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy	8
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’	8
Decision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy	8
Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series	8
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era	8

The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy	8
Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients	7
Myasthenia Gravis Impairment Index: Sensitivity for Change in Generalized Muscle Weakness	7
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?	7
Oxaliplatin Neuropathy: Predictive Values of Skin Biopsy, QST and Nerve Conduction	7
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 2	7
Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022)	6
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)	6
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years	6
The Treatabolome, an emerging concept	6
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy	6
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study	6
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families	6
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches	6
Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy	6
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies	6
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells	6
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’	6
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies	6
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives	6
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	6
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1	6
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis	5
Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits	5
Cerebrospinal Fluid Protein Level and Mechanical Ventilation in Guillain-Barré Syndrome patients	5
Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation	5
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease	5
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	5
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method	5
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies	5
Induction of Skeletal Muscle Progenitors and Stem Cells from human induced Pluripotent Stem Cells	5
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review	5
Thigh and Leg Muscle MRI Findings in GNE Myopathy	4
16th International Congress on Neuromuscular Diseases, 21 - 22 & 28 - 29 May 2021 Virtual, Worldwide	4
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy	4
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, 2021	4
Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design	4
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy	4
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene	4
Ganglionopathies Associated with MERRF Syndrome: An Original Report	4
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation	4
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment1	4
California’s experience with SMA newborn screening: A successful path to early intervention	4
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen	4
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI	4
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	4
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	4
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	4
Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence	4
Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy	4
Photovoice as a Participatory Research Tool in Amyotrophic Lateral Sclerosis	4
Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 – June 27, 2019	4
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study	4
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids	3
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge	3
Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?	3
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis	3
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy	3
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	3
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development	3
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder	3
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review	3
Multifocal Noninvasive Magnetic Stimulation of the Primary Motor Cortex in Type 1 Myotonic Dystrophy –A Proof of Concept Pilot Study	3
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	3
Evaluation of the Lipid-binding Properties of Recombinant Dystrophin Spectrin-like Repeat Domains R1-3	3
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy	3
Plasma Creatinine Level Does Not Predict Respiratory Function in Amyotrophic Lateral Sclerosis	3
Histological Analysis of Tibialis Anterior Muscle of DMDmdx4Cv Mice from 1 to 24 Months	3
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review	3
Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments	3
Transcutaneous Carbon Dioxide Measurement in Adult Patients with Neuromuscular Disorders: A quality Level Assessment	3
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	3
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy	3
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies	3
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy	3
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India	3
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study	3
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation	3
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’	3
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey	2

Sharing “Negative” Results in Neuromuscular Research: A Positive Experience	2
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1	2
Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children	2
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	2
Fracture Risk in Patients with Myasthenia Gravis: A Population-Based Cohort Study	2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	2
Slowly Progressive Limb-Girdle Weakness and HyperCKemia – Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?	2
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data	2
COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome	2
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients	2
Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) – Therapy Guidelines	2
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy	2
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting	2
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness	2
Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions	2
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort	2
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	2
Vasculitic Peripheral Neuropathy, Differences Between Systemic and Non-Systemic Etiologies: A Case Series and Biopsy Report	2
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP	2
Development of an International SMA Bulbar Assessment for Inter-professional Administration	2
Early Gross Motor Milestones in Duchenne Muscular Dystrophy	2
Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020	2
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3	2
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study	2
Compliance to DMD Care Considerations in the Netherlands	2
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients	2
Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists	2
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases	2
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1	2
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	2
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	2
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature	2
Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines	2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	2
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort	2
Andersen-Tawil Syndrome Presenting with Complete Heart Block	2
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes	2