Journal of Neuromuscular Diseases

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 2021-05-01 to 2025-05-01.)
ArticleCitations
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’123
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 202071
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report63
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis50
Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 244
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort32
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan30
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function30
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset28
The continued promise of genomic technologies and software in neurogenetics28
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report28
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module27
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 Tract26
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants25
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review24
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review23
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions23
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders22
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 122
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)22
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study21
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy19
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India19
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis17
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study16
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 116
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient16
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’15
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant15
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy15
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy15
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies14
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 214
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy14
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment14
Sharing “Negative” Results in Neuromuscular Research: A Positive Experience13
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data13
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen12
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
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 412
The Satellite Cell at 60: The Foundation Years12
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy11
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting11
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review11
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures11
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis11
Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy10
Mutational and clinical spectrum of myofibrillar myopathy in one center from China10
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes10
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy9
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing9
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study9
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies9
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.9
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy9
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease8
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 20218
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence8
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study8
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development8
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire8
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function8
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases8
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches8
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy8
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion7
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy7
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases7
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy7
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations7
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data7
Thigh and Leg Muscle MRI Findings in GNE Myopathy7
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen7
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis7
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 66
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study6
A model to predict the 6-Minute Walk Distance in Pompe disease6
Gene Therapy for Duchenne Muscular Dystrophy6
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy6
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data6
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’6
Development of an International SMA Bulbar Assessment for Inter-professional Administration6
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life6
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy6
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?6
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany6
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping6
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy6
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids5
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy5
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice5
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?5
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder5
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial5
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease5
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models5
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy5
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients5
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility5
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe5
Newborn screening programs for spinal muscular atrophy worldwide in 20235
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, 20215
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea5
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling5
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment5
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease5
Asymptomatic and oligosymptomatic states of dysferlinopathy5
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 20225
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI5
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study5
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature4
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements4
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review4
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 14
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 Me4
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies4
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity4
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape4
Newborn screening and rapid genomic diagnosis of neuromuscular diseases4
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders4
Terence A Partridge: A career dedicated to pursuit of curiosity, mentorship, and secrets of skeletal muscle stem cells4
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance4
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study4
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing4
Electrostatic Coating of Viral Particles for Gene Delivery Applications in Muscular Dystrophies: Influence of Size on Stability and Antibody Protection4
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study4
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study4
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort4
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy4
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy4
Erratum to: Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada4
Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease4
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data4
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA4
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 13
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy3
Abstracts of the 18 th UK Neuromuscular Translational Research Conference15 th and 16 th April 3
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy3
Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease3
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort3
Oculomotor Dysfunction in Motor Neuron Disease3
On the use of D2.B10-Dmd mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd mdx /J ( mdx 3
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study3
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study3
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases3
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
Gross motor delays in infants and young boys with Duchenne muscular dystrophy3
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R93
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’3
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review3
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey3
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 23
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases3
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 3
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review3
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care3
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy3
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review3
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance3
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)3
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach3
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort3
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen3
Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity2
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent2
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading2
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening2
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy2
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics2
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation2
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing2
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy2
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 Duchen2
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy2
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-192
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient2
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report2
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases2
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials2
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders2
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India2
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy2
Inspiratory Muscle Training in Nemaline Myopathy2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry2
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study2
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation2
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies2
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials2
MLIP-Associated Myopathy: A Case Report and Review of the Literature2
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment2
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic2
4th International Meeting on Laminopathies, Madrid, 9-12 May, 20232
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis2
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