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 2022-05-01 to 2026-05-01.)

Article	Citations
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	63
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	57
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy	55
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	50
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	47
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers	36
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	34
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients	31
The continued promise of genomic technologies and software in neurogenetics	28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset	27
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype	25
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants	25
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions	24
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study	24
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India	23
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review	22
Role of next generation sequencing in neonatal diagnosis and screening	22
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy	22
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy	22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	21
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis	21
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient	19
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant	19
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1	19
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1	19

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	18
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’	17
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	16
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)	16
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy	15
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment	15
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2	15
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies	15
Abstracts from the MYO-MRI+ 2025 \| Imaging in Neuromuscular Disease Conference	15
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting	14
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures	14
Rehabilitation research in spinal muscular atrophy: a call to action	14
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data	14
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?	14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy	14
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis	14
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen	13
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review	13
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy	13
Mutational and clinical spectrum of myofibrillar myopathy in one center from China	13
Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA	12
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes	12
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing	12
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.	12
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study	12
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy	12
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America	11
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study	11
Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study	11
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy	11
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function	11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease	11
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States	11
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI	11
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy	10
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review	10
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development	10
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021	10
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales	10
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases	10
Development of an International SMA Bulbar Assessment for Inter-professional Administration	9
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy	9
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	9
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	9
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	8
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	8
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	8

Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	8
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review	8
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan	8
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	8
A model to predict the 6-Minute Walk Distance in Pompe disease	8
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling	7
Asymptomatic and oligosymptomatic states of dysferlinopathy	7
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy	7
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	7
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data	7
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies	7
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?	7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy	7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy	7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review	7
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity	7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	7
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing	7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	7
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)	7
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA)	7
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models	7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6	7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease	7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life	7
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI	6
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease	6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults	6
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility	6
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study	6
Ecosystem Requirements for E-Health and Digital Monitoring in Neuromuscular Disorders	6
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results	6
Abstracts of the 19 ^th UK Neuromuscular Translational Research Conference 17 ^th and 18	6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients	6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea	6
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease	6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant	6
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies	6
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022	6
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing	5
Fibrotic differentiation profile of skeletal and cardiac muscle fibroadipogenic progenitors in D2-mdx mouse	5
Newborn screening programs for spinal muscular atrophy worldwide in 2023	5
Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis	5
Choosing the optimal mouse model for the study of late-onset spinal muscular atrophy: Why the 4-copy SMN2 model offers ideal translational relevance	5
On the use of D2.B10-Dmd ^mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd ^mdx /J ( mdx	5
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders	5
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	5
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy	5
Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death	5
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?	5
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy	5
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	5
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort	5
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	5
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	5
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape	5
State of the art: Pregnancy in spinal muscular atrophy in the treatment era	5
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis	5
Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease	5
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe	5
Moving beyond puberty: Listening to lived experience to expand sexual and reproductive healthcare for adults with muscular dystrophy	5
Newborn screening and rapid genomic diagnosis of neuromuscular diseases	5
Trunk control status in children with neuromuscular disorders and typically developing children: Is there a measurable difference?	5
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1	5
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	5
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Me	5
Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health	4
Meeting report: 2024 Muscular Dystrophy Association summit on ‘Safety and challenges in gene therapy of neuromuscular diseases’	4
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	4
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	4
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1	4
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)	4
Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review	4
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey	4
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9	4
Oculomotor Dysfunction in Motor Neuron Disease	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
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	4
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study	4

Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review	4
Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1	4
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy	4
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	4
Analysis of infections and malignancy risks among patients with myasthenia gravis compared with matched controls in a US real-world setting	4
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review	4
A toolkit for new facioscapulohumeral muscular dystrophy trial sites	4
Developing endpoints for the cardiac burden in myotonic dystrophy type 1: A workshop report	4
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	4
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	4
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach	4
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance	4
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort	4
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis	3
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases	3
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy	3
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study	3
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders	3
Fatigue as a modifier of diet quality in adults with Charcot Marie Tooth disease	3
Congenital core myopathy linked to SOX5 : Expanding the phenotypical spectrum of Lamb-Shaffer syndrome	3
MLIP-Associated Myopathy: A Case Report and Review of the Literature	3
Identification of myokines associated with the pathological stress response in the mdx mouse model of Duchenne muscular dystrophy	3
Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis	3
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-19	3
DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy	3
Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy	3
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent	3
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness	3
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy	3
Stride Velocity 95 ^th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Asse	3
Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop	3
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?	3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy	3
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics	3
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance	3
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India	3
Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials	3
Abstracts of the 18 ^th UK Neuromuscular Translational Research Conference15 ^th and 16	3
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders	3
Gross motor delays in infants and young boys with Duchenne muscular dystrophy	3
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review	3
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	3
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related	3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity	3
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care	3
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report	3
Letter to the Editor: 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 Study,	3
Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study	2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies	2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	2
MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review	2
Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies	2
4^th International Meeting on Laminopathies, Madrid, 9-12 May, 2023	2
Characteristics of early-onset, rapidly progressive scoliosis in spinal muscular atrophy type I treated with disease-modifying therapy -a multicenter retrospective study conducted in Japan-	2
Identification of novel protein biomarkers correlating with both cardiac and skeletal muscle indices in duchenne muscular dystrophy	2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	2
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient	2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1	2
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France	2
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India	2
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	2
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy	2
Inspiratory Muscle Training in Nemaline Myopathy	2
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACT	2
Real-world effectiveness and safety of zilucoplan in patients with anti-AChR myasthenia gravis: A retrospective cohort study in France	2
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20	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
U.S. health plan coverage of Neuromuscular Disease Therapies: An assessment of policy availability and restrictions	2
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis	2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	2
Disease modifying therapies for children with spinal muscular atrophy - parents’ experiences of hopes, grief and need for rehabilitation for their child	2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	2
Digital outcome measures in Duchenne muscular dystrophy: Lessons learnt from clinical trials	2
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy	2
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy	2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3	2
Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice	2
RNA therapies are delivering as therapies for neuromuscular dystrophy patients: Editorial for the special issue on RNA therapies in Journal of Neuromuscular Diseases	2
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype	2
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project	2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	2
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	2