Journal of Neuromuscular Diseases

Article	Citations
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy	67
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	63
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	56
Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions	41
The continued promise of genomic technologies and software in neurogenetics	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	38
Meeting report: Translating exercise research in dystrophinopathy to the clinic	32
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype	30
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	29
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions	28
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset	27
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review	26
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants	25
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	25
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review	24
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy	24
Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients	24
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study	24
Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1	23
Longitudinal cohort study of muscle function and metabolic biomarkers in disease-modifying treatment of spinal muscular atrophy	21
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient	21
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis	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
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders	18

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India	18
Role of next generation sequencing in neonatal diagnosis and screening	18
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’	17
Abstracts from the MYO-MRI+ 2025 | Imaging in Neuromuscular Disease Conference	16
Time-efficient coronal MRI reflects clinical and pathological features of myopathies	16
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2	16
Rehabilitation research in spinal muscular atrophy: a call to action	16
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies	16
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment	15
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
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy	15
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis	15
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?	15
Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy	14
Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA	14
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures	14
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.	14
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy	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
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States	13
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study	13
Mutational and clinical spectrum of myofibrillar myopathy in one center from China	13
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy	13
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies	13
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing	13
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function	13
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy	12
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America	12
Impaired renal function in patients with spinal muscular atrophy: A longitudinal cohort study	12
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study	12
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI	12
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	11
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease	11
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review	11
Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026	11
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development	11
Predictors of relapses in patients with chronic inflammatory demyelinating polyneuropathy receiving subcutaneous immunoglobulin therapy – a post-hoc analysis	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
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	10
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	9
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	9
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	9
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	9
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales	9
A model to predict the 6-Minute Walk Distance in Pompe disease	9
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	9
Development of an International SMA Bulbar Assessment for Inter-professional Administration	9

Modelling mitochondrial diseases in neurons In Vitro : A systematic review	9
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA)	8
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	8
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6	8
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?	8
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	8
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	8
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	8
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies	8
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy	8
Determinants of hepatic enzyme elevations following onasemnogene abeparvovec: Results from a unified immunomodulation protocol	8
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review	8
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing	8
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	8
Muscle Ultrasound Abnormalities in Individuals with RYR1 -Related Malignant Hyperthermia Susceptibility	7
‘FlexYonio’; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD)	7
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease	7
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy	7
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022	7
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models	7
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study	7
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data	7
Asymptomatic and oligosymptomatic states of dysferlinopathy	7
Abstracts of the 19 th UK Neuromuscular Translational Research Conference 17 th and 18	7
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity	7
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease	7
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling	7
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life	7
Phenotype Genotype Characterization of FKRP -related Muscular Dystrophy among Indian Patients	7
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies	7
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results	6
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss-of-function variant	6
Fibrotic differentiation profile of skeletal and cardiac muscle fibroadipogenic progenitors in D2-mdx mouse	6
Newborn screening programs for spinal muscular atrophy worldwide in 2023	6
State of the art: Pregnancy in spinal muscular atrophy in the treatment era	6
Myotonic dystrophy family registry. The patient experience	6
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	6
Ecosystem Requirements for E-Health and Digital Monitoring in Neuromuscular Disorders	6
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea	6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults	6
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI	6
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy	6
Energy expenditure and the accuracy of predictive equations in myotonic dystrophy type 1	6
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?	6
Advancing neuromuscular disease research through real-world data: Challenges and lessons learned	6
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease	6
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe	6
Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report	6
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis	6
Exploring psychosocial experiences in clinically stable generalised Myasthenia Gravis: A thematic analysis	6
Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death	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
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
Disease progression and economic burden of duchenne muscular dystrophy: A retrospective study using Swedish register data	5
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	5
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	5
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders	5
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy	5
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	5
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	5
Moving beyond puberty: Listening to lived experience to expand sexual and reproductive healthcare for adults with muscular dystrophy	5
Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension	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
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
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	5
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	5
A toolkit for new facioscapulohumeral muscular dystrophy trial sites	5
On the use of D2.B10-Dmd mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd mdx	5
Oculomotor Dysfunction in Motor Neuron Disease	4
Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1	4
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9	4
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)	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
Analysis of infections and malignancy risks among patients with myasthenia gravis compared with matched controls in a US real-world setting	4
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	4
Meeting report: 2024 Muscular Dystrophy Association summit on ‘Safety and challenges in gene therapy of neuromuscular diseases’	4
Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review	4
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness	4

Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’	4
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort	4
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study	4
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 1	4
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review	4
Developing endpoints for the cardiac burden in myotonic dystrophy type 1: A workshop report	4
Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health	4
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy	4
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review	4
Effects of intermittent corticosteroids on scoliosis, bone density, and vertebral fractures in duchenne muscular dystrophy	4
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance	4
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey	4
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy	4
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach	4
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	4
Nucleoside therapy for thymidine kinase 2 deficiency: Long-term outcomes from a Brazilian cohort	4
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	4
A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance	3
Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis	3
Gross motor delays in infants and young boys 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
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related	3
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	3
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy	3
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India	3
Conflicts in Best Interest; Infants with severe neuromuscular disorders presenting to UK Courts	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-Ye	3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy	3
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care	3
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review	3
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent	3
Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials	3
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics	3
Congenital core myopathy linked to SOX5 : Expanding the phenotypical spectrum of Lamb-Shaffer syndrome	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
Identification of myokines associated with the pathological stress response in the mdx mouse model of Duchenne muscular dystrophy	3
MLIP-Associated Myopathy: A Case Report and Review of the Literature	3
DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular 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
Abstracts of the 18 th UK Neuromuscular Translational Research Conference15 th and 16	3
Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy	3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity	3
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis	3
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders	3
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders	3
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report	3
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-19	3
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France	2
Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies	2
Disease modifying therapies for children with spinal muscular atrophy - parents’ experiences of hopes, grief and need for rehabilitation for their child	2
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases	2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	2
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom	2
The natural history of Becker muscular dystrophy: A systematic literature review	2
IMU-based workspace area as a promising complementary tool to assess upper limb function in Neuromuscular diseases: A one-year follow-up	2
Limitations in activities of daily living in individuals with spinal muscular atrophy: A scoping review and multidisciplinary recommendations for clinical practice	2
U.S. health plan coverage of Neuromuscular Disease Therapies: An assessment of policy availability and restrictions	2
Assessing airway clearance dysfunction in Friedreich’s ataxia: A focus on peak cough flow	2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies	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
A Novel Mutation in Frabin ( FGD4 ) Causing a Mild Phenotype of CMT4H in an Indian Patient	2
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy	2
Muscle involvement in women carrying pathogenic DMD gene variants: A 6.5-year follow-up study	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
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	2
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy	2
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project	2
Findings from the Longitudinal CINRG Becker Natural History Study	2
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment	2
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACT	2
Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale	2
Myocardial fat fraction in Becker muscular dystrophy and women carrying pathogenic DMD gene variants assessed by Dixon cardiac MRI	2
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis	2
Inspiratory Muscle Training in Nemaline Myopathy	2
4 th International Meeting on Laminopathies, Madrid, 9-12 May, 2023	2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	2
Real-world effectiveness and safety of zilucoplan in patients with anti-AChR myasthenia gravis: A retrospective cohort study in France	2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	2
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?	2
Fatigue as a modifier of diet quality in adults with Charcot Marie Tooth disease	2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?	2
Physical training of wheelchair users with neuromuscular disorders: A systematic review	2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1	2
MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review	2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	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
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	2
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype	2
Identification of novel protein biomarkers correlating with both cardiac and skeletal muscle indices in duchenne muscular dystrophy	2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 3	2
Digital outcome measures in Duchenne muscular dystrophy: Lessons learnt from clinical trials	2