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 2021-11-01 to 2025-11-01.)

Article	Citations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy	146
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report	86
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	74
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function	61
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’	52
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	42
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	41
The continued promise of genomic technologies and software in neurogenetics	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	37
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset	34
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants	32
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype	30
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients	30
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	30
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions	29
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient	28
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis	28
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study	26
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy	25
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant	24
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1	22
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’	22
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India	21
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	21

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy	20
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study	20
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)	19
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review	19
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 4	18
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1	18
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy	17
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment	17
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis	17
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies	16
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy	16
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review	15
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen	15
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data	15
Rehabilitation research in spinal muscular atrophy: a call to action	15
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting	15
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy	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
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures	14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy	14
Abstracts from the MYO-MRI+ 2025 \| Imaging in Neuromuscular Disease Conference	13
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy	13
The Satellite Cell at 60: The Foundation Years	13
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2	13
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function	12
Mutational and clinical spectrum of myofibrillar myopathy in one center from China	12
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies	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
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
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing	11
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches	11
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States	11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease	11
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America	11
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence	11
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy	11
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases	11
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021	10
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy	10
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan	10
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy	10
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data	10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study	10
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development	10
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	10
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	9
Development of an International SMA Bulbar Assessment for Inter-professional Administration	9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	9

‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	8
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	8
Gene Therapy for Duchenne Muscular Dystrophy	8
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	8
Modelling mitochondrial diseases in neurons In Vitro : A systematic review	8
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	8
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	8
A model to predict the 6-Minute Walk Distance in Pompe disease	8
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales	8
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	8
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?	7
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing	7
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data	7
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	7
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice	7
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy	7
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies	7
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling	7
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	7
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy	7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life	7
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy	7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease	7
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients	7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy	7
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6	7
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
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids	6
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI	6
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study	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
Asymptomatic and oligosymptomatic states of dysferlinopathy	6
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease	6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea	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
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)	6
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models	6
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy	6
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe	6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss of function	6
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results	6
State of the art: Pregnancy in spinal muscular atrophy in the treatment era	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
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders	5
Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease	5
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis	5
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial	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
Newborn screening and rapid genomic diagnosis of neuromuscular diseases	5
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1	5
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	5
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	5
Erratum to: Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada	5
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance	5
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study	5
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy	5
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study	5
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	5
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	5
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy	5
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing	5
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease	5
Newborn screening programs for spinal muscular atrophy worldwide in 2023	5
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	5
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review	4
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9	4
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review	4
Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health	4
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases	4
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey	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
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	4
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	4
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	4
On the use of D2.B10-Dmd ^mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd ^mdx /J ( mdx	4

Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study	4
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance	4
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	4
Oculomotor Dysfunction in Motor Neuron Disease	4
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1	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
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases	4
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	4
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature	4
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach	4
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 2	4
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort	4
Abstracts of the 18 ^th UK Neuromuscular Translational Research Conference15 ^th and 16 ^th April	4
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)	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
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	4
Terence A Partridge: A career dedicated to pursuit of curiosity, mentorship, and secrets of skeletal muscle stem cells	4
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation	3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy	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
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
Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis	3
MLIP-Associated Myopathy: A Case Report and Review of the Literature	3
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders	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
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?	3
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care	3
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance	3
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders	3
Gross motor delays in infants and young boys with Duchenne muscular dystrophy	3
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report	3
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis	3
DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy	3
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	3
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD	3
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent	3
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics	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
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy	3
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review	3
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study	3
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy	3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity	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
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related	3
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases	3
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India	3
Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy	2
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project	2
Physical training of wheelchair users with neuromuscular disorders: A systematic review	2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	2
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20	2
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials	2
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy	2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3	2
Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases	2
Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study	2
Facioscapulohumeral Disease as a myodevelopmental disease: Applying Ockham’s razor to its various features	2
A pilot study using actigraphy to examine activity performance and its relationship with activity capacity in adults with facioscapulohumeral muscular dystrophy	2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	2
The assistive gait devices and their implementation in activities of daily living for patients with neuromuscular disease: A systematic review and meta-analysis	2
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy	2
Inspiratory Muscle Training in Nemaline Myopathy	2
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	2
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient	2
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa	2
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	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
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis	2
Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy	2
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials	2
Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using Data from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet)	2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies	2
Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy	2
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy	2
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy	2
Findings from the Longitudinal CINRG Becker Natural History Study	2
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	2
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom	2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	2
Coping in Children and Adolescents with a Genetic Muscle Disorder –Findings from a Population-Based Study	2
Disease modifying therapies for children with spinal muscular atrophy - parents’ experiences of hopes, grief and need for rehabilitation for their child	2
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India	2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	2
Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients	2
Compliance to DMD Care Considerations in the Netherlands	2
Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale	2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	2
A rare case of myopathy with fatigability due to PYROXD1 variation	2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1	2
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells	2