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 2021-04-01 to 2025-04-01.)

Article	Citations
Peripheral defects precede neuromuscular pathology in the Smn^2B/− mouse model of spinal muscular atrophy	117
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials	70
Newborn screening and rapid genomic diagnosis of neuromuscular diseases	63
Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy	49
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy	44
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report	32
16th International Congress on Neuromuscular Diseases, 21 - 22 & 28 - 29 May 2021 Virtual, Worldwide	29
Reply to F. Muntoni et al.: “In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension	29
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	27
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	26
Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model	26
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	25
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	25
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	24
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report	23
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	22
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis	21
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit	21
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation	21
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients	20
Histological Analysis of Tibialis Anterior Muscle of DMD^mdx4Cv Mice from 1 to 24 Months	19
Rehabilitation technology in assessment and treatment of arm and hand function in myotonic dystrophy type 1: A single subject experimental design study	19
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India	19
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	17
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	16

Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	15
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	15
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	14
The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study	14
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study	14
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’	14
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy	14
Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression	14
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	13
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data	13
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease	12
Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022)	12
Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020	12
Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2	12
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020	11
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	11
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	11
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	11
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	11
RNA Transcript Diversity in Neuromuscular Research	11
Development of an International SMA Bulbar Assessment for Inter-professional Administration	10
The Effect of Immunomodulatory Treatments on Anti-Dystrophin Immune Response After AAV Gene Therapy in Dystrophin Deficient mdx Mice	10
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	10
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	9
Thigh and Leg Muscle MRI Findings in GNE Myopathy	9
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study	9
Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study	8
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method	8
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	8
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	8
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials	8
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy	8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	8
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape	7
Gene Therapy for Duchenne Muscular Dystrophy	7
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells	7
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	7
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3	7
A neuromuscular clinician’s primer on machine learning	7
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	7
Terence A Partridge: A career dedicated to pursuit of curiosity, mentorship, and secrets of skeletal muscle stem cells	7
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	7
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1	7
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function	7
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy	7
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience	6
On the use of D2.B10-Dmd^mdx/J (D2.mdx) Versus C57BL/10ScSn-Dmd^mdx/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note fro	6
Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease	6
Plasma Creatinine Level Does Not Predict Respiratory Function in Amyotrophic Lateral Sclerosis	6
Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective	6

Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	6
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature	6
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 Tract	6
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	6
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment	6
Optimized Molecular Interaction Networks for the Study of Skeletal Muscle	6
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases	6
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	6
Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy	5
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	5
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy	5
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes	5
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa	5
A historical perspective on the development of antisense oligonucleotide treatments for Duchenne muscular dystrophy and spinal muscular atrophy	5
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective	5
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	5
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen	5
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	5
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	5
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review	5
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	5
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study	5
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy	5
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands – A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists	5
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	5
Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy	5
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	5
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient	5
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	5
Serum neurofilament light chain levels in patients with small-fiber neuropathy	5
Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial	4
Exon-Skipping in Duchenne Muscular Dystrophy	4
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders	4
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy	4
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy	4
Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension	4
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	4
Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?	4
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis	4
Antisense RNA therapies for muscular dystrophies	4
Inspiratory Muscle Training in Nemaline Myopathy	4
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort	4
In response to Gulcin Akinci’s and Haluk Topaloglu's letter regarding our article “Predictors of loss of ambulation in Duchenne muscular dystrophy: A systematic review and meta-analysis”	4
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions	4
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India	4
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey	4
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies	4
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants	4
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report	4
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children	4
Report on the 6th Ottawa International Conference on Neuromuscular Disease & Biology – September 7–9, 2023, Ottawa, Canada	4
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module	4
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes	4
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy	4
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset	4
Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers	3
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)	3
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness	3
Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner	3
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 2	3
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis	3
Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions	3
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge	3
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases	3
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1	3
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy	3
International collaboration to improve knowledge on myotonic dystrophy type 2	3
Current biomarkers in inclusion body myositis	3
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6	3
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice	3
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND)	3
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance	3
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data	3
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy	3
4^th International Meeting on Laminopathies, Madrid, 9-12 May, 2023	3
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life	3
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)	3
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review	3
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype	3
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019	3

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach	3
Abstracts of the 18th International Congress on Neuromuscular Diseases (ICNMD 2024)	3
Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A	3
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1	3
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort	3
The Relation Between Nutritional Intake and Body Weight in 4–18 Year Old Patients with DMD: What could possibly be done to prevent weight gain?	3
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?	3
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient	3
Abstracts of the 17^th UK Neuromuscular Translational Research Conference, 17^th and 18^th April 2024	2
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease	2
Muscle Specific Promotors for Gene Therapy – A Comparative Study in Proliferating and Differentiated Cells	2
Abstracts from the MYO-MRI+ 2023 \| Imaging in Neuromuscular Disease Conference	2
The Safety Factor for Neuromuscular Transmission: Effects of Dimethylsulphoxide, Cannabinoids and Synaptic Homeostasis	2
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant	2
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1	2
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy	2
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	2
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1	2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3	2
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study	2
Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy	2
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	2
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’	2
The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands	2
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	2
Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia	2
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT	2
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice	2
The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report	2
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia	2
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)	2
Oculomotor Dysfunction in Motor Neuron Disease	2
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation	2
Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore	2
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype	2
Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1	2
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	2
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review	2
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain	2
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review	2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	2
Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond	2