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 2021-12-01 to 2025-12-01.)

Article	Citations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy	63
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report	52
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	47
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	47
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function	40
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	39
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	38
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers	35
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients	30
The continued promise of genomic technologies and software in neurogenetics	30
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset	30
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants	29
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions	29
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype	28
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	27
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient	25
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study	23
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’	21
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant	21
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India	20
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	20
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy	19
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	18
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1	18
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review	18

Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis	17
Role of next generation sequencing in neonatal diagnosis and screening	17
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4	17
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)	17
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	17
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment	16
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy	16
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting	15
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis	15
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies	15
Rehabilitation research in spinal muscular atrophy: a call to action	14
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy	14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy	13
Abstracts from the MYO-MRI+ 2025 \| Imaging in Neuromuscular Disease Conference	13
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2	13
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen	12
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures	12
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data	12
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review	12
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy	12
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?	12
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.	11
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function	11
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States	11
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study	11
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies	11
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes	11
Mutational and clinical spectrum of myofibrillar myopathy in one center from China	11
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing	11
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence	11
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases	10
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy	10
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy	10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study	10
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches	10
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease	10
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America	10
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	9
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development	9
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales	9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	9
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy	9
Development of an International SMA Bulbar Assessment for Inter-professional Administration	9
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021	9
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	8
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan	8
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	8

The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	7
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	7
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy	7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6	7
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies	7
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy	7
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review	7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	7
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life	7
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing	7
A model to predict the 6-Minute Walk Distance in Pompe disease	7
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy	7
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	7
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	7
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review	7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy	7
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?	7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy	6
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility	6
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids	6
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling	6
Asymptomatic and oligosymptomatic states of dysferlinopathy	6
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022	6
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment	6
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)	6
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease	6
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models	6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients	6
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data	6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant	5
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe	5
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults	5
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results	5
Erratum to: Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada	5
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing	5
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	5
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis	5
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI	5
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea	5
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?	5
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance	5
Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease	5
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy	5
Newborn screening and rapid genomic diagnosis of neuromuscular diseases	5
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease	5
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study	5
Newborn screening programs for spinal muscular atrophy worldwide in 2023	5
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease	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
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study	5
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	5
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study	5
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study	4
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	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
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	4
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	4
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	4
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy	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
Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health	4
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)	4
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review	4
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey	4
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	4
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	4
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	4
State of the art: Pregnancy in spinal muscular atrophy in the treatment era	4
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders	4
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	4
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1	4
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort	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
On the use of D2.B10-Dmd ^mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd ^mdx /J ( mdx	4
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1	4
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape	4
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases	4

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach	4
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review	4
Oculomotor Dysfunction in Motor Neuron Disease	4
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
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-19	3
Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease	3
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	3
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials	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
Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop	3
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance	3
Stride Velocity 95 ^th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchen	3
Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis	3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity	3
Gross motor delays in infants and young boys with Duchenne muscular dystrophy	3
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders	3
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis	3
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance	3
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy	3
DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy	3
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics	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
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy	3
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases	3
Abstracts of the 18 ^th UK Neuromuscular Translational Research Conference15 ^th and 16 ^th April	3
MLIP-Associated Myopathy: A Case Report and Review of the Literature	3
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9	3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy	3
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related	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
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India	3
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders	3
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials	2
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?	2
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis	2
A rare case of myopathy with fatigability due to PYROXD1 variation	2
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20	2
Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy	2
Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale	2
Inspiratory Muscle Training in Nemaline Myopathy	2
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy	2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	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
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India	2
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	2
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy	2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	2
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project	2
A pilot study using actigraphy to examine activity performance and its relationship with activity capacity in adults with facioscapulohumeral muscular dystrophy	2
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa	2
Findings from the Longitudinal CINRG Becker Natural History Study	2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1	2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies	2
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient	2
4^th International Meeting on Laminopathies, Madrid, 9-12 May, 2023	2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	2
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France	2
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation	2
Disease modifying therapies for children with spinal muscular atrophy - parents’ experiences of hopes, grief and need for rehabilitation for their child	2
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype	2
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy	2
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	2
MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review	2
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy	2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3	2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	2
Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice	2
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	2