OOIR: Observatory of International Research

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 2020-05-01 to 2024-05-01.)

Article	Citations
Gene Therapy for Duchenne Muscular Dystrophy	70
Molecular Mechanisms of Skeletal Muscle Hypertrophy	67
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	47
Safety Monitoring of Gene Therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec –A Single Centre Experience	39
Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report	38
Exon-Skipping in Duchenne Muscular Dystrophy	37
Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy	35
COVID-19 in Refractory Myasthenia Gravis- A Case Report of Successful Outcome	34
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy	32
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study	28
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada	27
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment	26
Current View of Diagnosing Small Fiber Neuropathy	26
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials	26
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy	25
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD	25
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls	23
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	21
Current Therapeutic Approaches in FSHD	21
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy	20
Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases	20
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy	20
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort	19

Dysphagia and Dysarthria in Children with Neuromuscular Diseases, a Prevalence Study	18
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	17
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy	16
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
Clinical Experience with Eculizumab in Treatment-Refractory Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis	16
Quantitative Muscle-MRI Correlates with Histopathology in Skeletal Muscle Biopsies	16
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen	16
Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’	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
The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry	15
Interrogation of Dystrophin and Dystroglycan Complex Protein Turnover After Exon Skipping Therapy	14
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial	13
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study	13
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	13
Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen	13
Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience	12
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy	11
Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review	11
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD	11
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy	11
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore	11
Orphan Peripheral Neuropathies	11
The Satellite Cell at 60: The Foundation Years	11
Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy	11
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	10
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study	10
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)	10
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials	10
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations	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
The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy	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
Decision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy	9
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
Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series	8
Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy	8
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	8
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’	8
Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy	8
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era	8
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years	7
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy	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
Myasthenia Gravis Impairment Index: Sensitivity for Change in Generalized Muscle Weakness	7

Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy	7
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?	7
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families	6
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’	6
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)	6
Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives	6
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells	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
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches	6
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies	6
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies	6
Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation	6
Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022)	6
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis	6
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	6
The Treatabolome, an emerging concept	6
Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease	5
Photovoice as a Participatory Research Tool in Amyotrophic Lateral Sclerosis	5
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	5
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	5
Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits	5
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI	5
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study	5
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	5
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study	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
Cerebrospinal Fluid Protein Level and Mechanical Ventilation in Guillain-Barré Syndrome patients	5
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method	5