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 2021-08-01 to 2025-08-01.)
ArticleCitations
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020136
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report78
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis69
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’59
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function48
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan37
Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy36
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset35
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort35
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants33
Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review33
Rozanolixizumab in generalized myasthenia gravis: Pooled analysis of the Phase 3 MycarinG study and two open-label extensions30
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 Tract30
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report29
Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers29
The continued promise of genomic technologies and software in neurogenetics27
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis24
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient24
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant24
Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 124
Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’23
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)21
What Happened with Muscle Force, Dynamic Stability And Falls? A 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 120
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India19
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review18
Validation of the Single Breath Count Test for Assessment of Inspiratory Muscle Strength in Healthy Subjects and People with Neuromuscular Disorders18
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy17
Automated analysis of quantitative muscle MRI and its reliability in patients with Duchenne muscular dystrophy16
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study16
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study16
An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies16
Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 216
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment16
A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy15
Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis15
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
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy15
Motor Unit and Capillary Recruitment During Fatiguing Arm-Cycling Exercise in Spinal Muscular Atrophy Types 3 and 415
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review14
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen13
A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting13
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data13
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures13
The Satellite Cell at 60: The Foundation Years13
Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy12
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy12
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy12
Sharing “Negative” Results in Neuromuscular Research: A Positive Experience12
The telemedical platform MyaLink for remote monitoring in myasthenia gravis – rationale and protocol for a proof of concept study11
Timing of Clinical Interventions in Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of Evidence11
Quantification and comparison of anti-AAV9 and anti-AAVrh74 antibodies in plasma and human milk: Implications for AAV-based gene therapy candidacy11
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes11
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies11
Mutational and clinical spectrum of myofibrillar myopathy in one center from China10
Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease10
Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function10
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study10
DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing10
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases10
Paraneoplastic anti-SRP antibody positive immune-mediated necrotizing myopathy in a young female associated with lymphoma.10
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases9
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development9
Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 20219
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle9
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches9
Considering the Promise of Vamorolone for Treating Duchenne Muscular Dystrophy9
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy9
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data9
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America9
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen8
On the road to blood biomarkers in myasthenia gravis (MG): Beyond clinical scales8
Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan8
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion8
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations8
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification8
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy8
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?8
Gene Therapy for Duchenne Muscular Dystrophy7
A model to predict the 6-Minute Walk Distance in Pompe disease7
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis7
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study7
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’7
Development of an International SMA Bulbar Assessment for Inter-professional Administration7
Modelling mitochondrial diseases in neurons In Vitro : A systematic review7
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 66
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy6
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids6
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy6
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients6
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment6
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping6
Female Outperformance in Voluntary Running Persists in Dystrophin-Null and Klotho-Overexpressing Mice6
Some functional improvements in placebo and Delandistrogene moxeparvovec-treated trial participants explained by increased corticosteroid dosing6
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life6
Comparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data6
Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy6
Pathogenic mechanisms and clinical insights into B3GALNT2 -related alpha-dystroglycanopathies6
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy6
Spinal Muscular Atrophy – Is Newborn Screening Too Late for Children with Two SMN2 Copies?6
Changes in Myonuclear Number During Postnatal Growth – Implications for AAV Gene Therapy for Muscular Dystrophy6
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy6
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies – Developing Potential Treatments for the Entire Spectrum of Disease6
Antisense Oligonucleotide-Mediated Downregulation of IGFBPs Enhances IGF-1 Signaling6
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany6
Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults5
Comprehensive multidisciplinary care for adult Duchenne muscular dystrophy in South Korea5
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
Detection of Autoantibodies Against the Acetylcholine Receptor, Evaluation of Commercially Available Methodologies: Fixed Cell-Based Assay, Radioimmunoprecipitation Assay and Enzyme-Linked Immunosorbe5
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing5
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies5
Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease5
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance5
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy5
Expanding the spectrum of TNNC2 variants in neonatal hypotonia - a family report of a homozygous loss of function5
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results5
Exploring the therapeutic potential of fibroadipogenic progenitors in muscle disease5
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models5
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial5
Newborn screening programs for spinal muscular atrophy worldwide in 20235
Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis5
Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review5
Physical Activity and Sedentary Behaviour in People with Myasthenia Gravis: A Cross-Sectional Study5
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI5
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
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study5
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease5
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility5
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 15
Electrostatic Coating of Viral Particles for Gene Delivery Applications in Muscular Dystrophies: Influence of Size on Stability and Antibody Protection5
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 Me5
Erratum to: Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada5
Systematic review for economic evaluations on newborn screening for spinal muscular atrophy4
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data4
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements4
Terence A Partridge: A career dedicated to pursuit of curiosity, mentorship, and secrets of skeletal muscle stem cells4
On the use of D2.B10-Dmd mdx /J (D2. mdx ) Versus C57BL/10ScSn-Dmd mdx /J ( mdx 4
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy4
Diffusion Tensor Imaging Shows Differences Between Myotonic Dystrophy Type 1 and Type 24
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study4
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape4
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study4
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen4
Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension4
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study4
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders4
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature4
Newborn screening and rapid genomic diagnosis of neuromuscular diseases4
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity4
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA4
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort4
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort4
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases4
Repeated AAV9 Titer Determination in a Presymptomatic SMA Patient with Three SMN2 Gene Copies – A Case Report3
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent3
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy3
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy3
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy3
Abstracts of the 18 th UK Neuromuscular Translational Research Conference15 th and 16 th April 3
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach3
Factors affecting desired participation in transition to an adult life with Duchenne muscular dystrophy (DMD)3
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review3
Oculomotor Dysfunction in Motor Neuron Disease3
Gross motor delays in infants and young boys with Duchenne muscular dystrophy3
Healthcare Utilisation and Satisfaction with Care in Patients with Amyotrophic Lateral Sclerosis - An Observational Study3
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort3
MLIP-Associated Myopathy: A Case Report and Review of the Literature3
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment3
DCTN1 -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy3
Thinking outside the box: A re-evaluation of Canadian recommended outcome measures in adult spinal muscular atrophy – report of a national consensus workshop3
Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study3
Meeting Report: 2022 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Transfer Therapy’3
Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease3
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey3
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
Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance3
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity3
Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-193
Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials3
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
Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care3
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R93
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review3
Hyperconnectivity in resting-state fMRI as a marker of disease severity in Myotonic Dystrophy Type 13
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review3
Dystrophin Genotype and Risk of Neuropsychiatric Disorders in Dystrophinopathies: A Systematic Review and Meta-Analysis3
The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases3
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?3
Physical training of wheelchair users with neuromuscular disorders: A systematic review2
A rare case of myopathy with fatigability due to PYROXD1 variation2
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening2
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy2
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan2
Natural History of Mandibular Function in Spinal Muscular Atrophy Types 2 and 32
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy2
Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge2
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic2
Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A2
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials2
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases2
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics2
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy2
Findings from the Longitudinal CINRG Becker Natural History Study2
Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy2
Coping in Children and Adolescents with a Genetic Muscle Disorder –Findings from a Population-Based Study2
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis2
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?2
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading2
Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?2
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India2
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing2
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related2
Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation2
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy2
The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD2
Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy2
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells2
Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa2
Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment2
Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 12
Inspiratory Muscle Training in Nemaline Myopathy2
Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom2
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient2
4th International Meeting on Laminopathies, Madrid, 9-12 May, 20232
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report2
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project2
Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype2
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation2
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
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders2
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry2
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies2
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