OOIR: Observatory of International Research

Papers

(The TQCC of Journal of Neuromuscular Diseases is 5. 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 2021-04-01 to 2025-04-01.)

Article	Citations
Peripheral defects precede neuromuscular pathology in the Smn^2B/− mouse model of spinal muscular atrophy	117
Digital outcome measures in Duchene muscular dystrophy: Lessons learnt from clinical trials	70
Newborn screening and rapid genomic diagnosis of neuromuscular diseases	63
Cardiopulmonary exercise testing as an integrative approach to explore physiological limitations in Duchenne muscular dystrophy	49
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy	44
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report	32
16th International Congress on Neuromuscular Diseases, 21 - 22 & 28 - 29 May 2021 Virtual, Worldwide	29
Reply to F. Muntoni et al.: “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	29
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report	27
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases	26
Minimal Consequences of CMAH and DBA/2 Backgrounds on a FKRP Deficient Model	26
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data	25
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening	25
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy	24
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report	23
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?	22
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation	21
Association of HLA Class II Alleles with Disease Severity and Treatment Response in Iranian Patients with Myasthenia Gravis	21
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit	21
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients	20
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India	19
Histological Analysis of Tibialis Anterior Muscle of DMD^mdx4Cv Mice from 1 to 24 Months	19
Rehabilitation technology in assessment and treatment of arm and hand function in myotonic dystrophy type 1: A single subject experimental design study	19
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity	17
The Muscular Dystrophy Association’s neuroMuscular ObserVational Research Data Hub (MOVR): Design, Methods, and Initial Observations	16

Aquatic Therapy for Persons with Neuromuscular Diseases – A Scoping Review	15
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry	15
Clinical Tests for Predicting Fallers Among Ambulatory Patients with Amyotrophic Lateral Sclerosis: A Preliminary Cohort Study	14
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’	14
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy	14
Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression	14
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen	14
The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study	14
Enhancing Interrogation of Skeletal Muscle Samples for Informative Quantitative Data	13
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort	13
Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2	12
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease	12
Abstracts of the 17th International Congress on Neuromuscular Diseases (ICNMD 2022)	12
Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020	12
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic	11
RNA Transcript Diversity in Neuromuscular Research	11
Author’s Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020	11
Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis	11
Modeling Early Heterogeneous Rates of Progression in Boys with Duchenne Muscular Dystrophy	11
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion	11
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan	10
Development of an International SMA Bulbar Assessment for Inter-professional Administration	10
The Effect of Immunomodulatory Treatments on Anti-Dystrophin Immune Response After AAV Gene Therapy in Dystrophin Deficient mdx Mice	10
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study	9
Habitual Physical Activity in Patients with Myasthenia Gravis Assessed by Accelerometry and Questionnaire	9
Thigh and Leg Muscle MRI Findings in GNE Myopathy	9
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials	8
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy	8
Virtual horizons: Enhancing rehabilitation of neuromuscular diseases through virtual reality and gamification	8
Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study	8
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method	8
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study	8
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle	8
A neuromuscular clinician’s primer on machine learning	7
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study	7
Terence A Partridge: A career dedicated to pursuit of curiosity, mentorship, and secrets of skeletal muscle stem cells	7
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA	7
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1	7
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function	7
An Open Label Exploratory Clinical Trial Evaluating Safety and Tolerability of Once-Weekly Prednisone in Becker and Limb-Girdle Muscular Dystrophy	7
A Parent Project Muscular Dystrophy-sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-changing Landscape	7
Gene Therapy for Duchenne Muscular Dystrophy	7
Temporal Proteomic Profiling During Differentiation of Normal and Dystrophin-Deficient Human Muscle Cells	7
Expert Insights from a Delphi-driven Neurologists’ Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy	7
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3	7
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment	6
Optimized Molecular Interaction Networks for the Study of Skeletal Muscle	6
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases	6
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort	6
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience	6

On the use of D2.B10-Dmd^mdx/J (D2.mdx) Versus C57BL/10ScSn-Dmd^mdx/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note fro	6
Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease	6
Plasma Creatinine Level Does Not Predict Respiratory Function in Amyotrophic Lateral Sclerosis	6
Humanization of the mdx Mouse Phenotype for Duchenne Muscular Dystrophy Modeling: A Metabolic Perspective	6
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading	6
Inflammatory Myositis Secondary to Anti-Retroviral Therapy in a Child; Case Report and Review of the Literature	6
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	6
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements	6
‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’	5
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes	5
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa	5
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy	5
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen	5
A historical perspective on the development of antisense oligonucleotide treatments for Duchenne muscular dystrophy and spinal muscular atrophy	5
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective	5
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing	5
Multimodality Screening For (Peri)Myocarditis In Newly Diagnosed Idiopathic Inflammatory Myopathies: A Cross-Sectional Study	5
Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping	5
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review	5
Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy	5
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy	5
Analysis of spinal muscular atrophy patients from the spinal muscular atrophy and muscular dystrophy registry of Pakistan	5
Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study	5
Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands – A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists	5
Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy	5
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany	5
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient	5
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen	5
Plasma-derived protein and imaging biomarkers distinguish disease severity in oculopharyngeal muscular dystrophy	5
Serum neurofilament light chain levels in patients with small-fiber neuropathy	5