OOIR: Observatory of International Research

Papers

(The TQCC of Neuromuscular Disorders is 0. 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
MYOTONIC DYSTROPHY	123
PURA syndrome: Neuromuscular junction manifestations with potential therapeutic implications	58
WMS Information	48
WMS 2022 Flyer	44
Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies	42
Neuromuscular Disorders Special Issue 2021 Marking the 90th birthday of Victor Dubowitz, Founding Editor-in-Chief	40
248P Spinal muscular atrophy in Latin American: patient journey observed in regional registry	35
407P RGX-202, an investigational gene therapy for the treatment of Duchenne muscular dystrophy: interim clinical data	35
414P Pulmonary function in Colombian non-ambulatory patients with Duchenne muscular dystrophy treated with Ataluren	33
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A	32
623P Characteristics of Japanese patient with facioscapulohumeral muscular dystrophy in the Japanese nationwide registry of muscular dystrophy (Remudy)	31
186P Demographic and clinical characteristics of risdiplam-treated and untreated adult patients with SMA	30
23P Establishing the genetic diagnosis in patients with suspected recessive titinopathy	29
261P Insights into facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study	28
535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant	27
167P SnRNAseq analysis of muscle samples of patients with SMA reveals novel pathogenic pathways and open avenues for new therapeutic strategies	26
456P Gait analysis by IMU sensor in myotonic dystrophy type 1	26
328P Navigating dystrophinopathies: dual diagnosis and their implications	26
103P NMD670, a first-in-class skeletal muscle ClC-1 Inhibitor in Charcot-Marie-Tooth disease: the SYNAPSE-CMT phase 2 study	25
311P Development and pilot validation of the DuMAND checklist to screen for Duchenne muscular dystrophy-associated neurobehavioral difficulties (DuMAND)	23
584P Nuclear envelope and splicing alterations in selected muscular dystrophies	22
10O The neonatal screening of SMA in Ukraine: the 18 months of experience	22
643VP Molecular imaging of muscle involvement in facioscapulohumeral muscular dystrophy using multispectral optoacoustic tomography	20
470P Splicing is improved using a novel AAV-microRNA delivery platform as a treatment for myotonic dystrophy type 1	19
624P A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy and familial amyotrophic lateral sclerosis.	18

458P The iDM-Scope Registry: an innovative France-Canada framework to advance myotonic dystrophy translational research	18
95P Development of a myotropic gene therapy towards a first treatment for LGMDR7	18
106P Clinical, neurophysiological, and genetic characterization of a 5’ UTR PSAP variant: implications for diagnosis	18
322P Rasch evaluation of North Star Ambulatory Assessment and North Star Assessment for limb-girdle type muscular dystrophies in Becker muscular dystrophy	18
84P A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent	17
198P Longitudinal evaluation of fatigue in adult patients with spinal muscular atrophy and the impact of treatment with disease-modifying drugs	16
300P Brain involvement in Duchenne muscular dystrophy (BIND)	16
351P Sevasemten, a fast myosin inhibitor, in adults with Becker muscular dystrophy results in reduced muscle damage biomarkers and functional stabilization	16
480P Comparative analysis of CRISPR/Cas9-targeted Nanopore long-read sequencing approaches in repeat expansion disorders	16
88P Clinical progression of 43 patients with sarcoglycanopathy at a single centre	15
08O To manually or mechanically cough: that is the question! Cough augmentation in children with neuromuscular disorders: a feasibility study	15
312P Genotype and corticosteroid treatment are associated with distinctive variations in gray matter characteristics among patients with Duchenne muscular dystrophy	15
358P Long-term changes of motor function in Becker muscular dystrophy	15
271P Exploring the effects of the epi-drug Remodelin on murine myoblasts differentiation	15
46P Congenital myopathies and muscular dystrophies in the UK: a comprehensive next generation sequencing analysis of frequencies over an 8-year period (2016-2023)	15
392P Investigating the data landscape of Duchenne muscular dystrophy: Answering your research questions with the right data source	15
229P Home mechanical ventilation in paediatric neuromuscular disorders in a resource limited setting	15
478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases	15
513P Deposition of MAC and IgG subclasses at the neuromuscular junction in LRP4+ myasthenia gravis	15
619P Normal and borderline-sized D4Z4 alleles in FSHD1-mimics: a multicentric Italian review of cases	14
WMS 2024 Full Programme	14
195P Real-world data on the effectiveness and safety of onasemnogene abeparvovec in spinal muscular atrophy	14
477P An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy	14
465P Factors impacting dysphagia in adult-onset myotonic dystrophy type 1	14
638P Interleukin-6 as a biomarker for disease activity, progression and muscle composition in facioscapulohumeral dystrophy: insights from longitudinal studies	13
359VP Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: A questionnaire survey based on the Japanese Registry of muscular dystrophy (Remudy)	13
326P Acute adverse events after Zoledronic acid infusion are uncommon in patients with Duchenne muscular dystrophy previously treated with oral bisphosphonates	13
345P Becker muscular dystrophy (BMD): natural history	12
210P Advancing upper limb motor function evaluation in Duchenne muscular dystrophy and spinal muscular atrophy via kinematic parameterization with the wearable device “ArmTracker”	12
104P RNA Aptamers as a potential drug candidate for ALS	12
129P Newborn screening for spinal muscular atrophy in Poland – a summary of 3-year experience	12
194P Longitudinal assessment of the Adapted Test for Neuromuscular Disease (ATEND) in individuals living with spinal muscular atrophy (SMA)	12
491P PIEZO2 loss of function syndrome: a highly specific and recognizable phenotype	11
283P Generation of cardiomyocyte cell models for personalized medicine	11
514VP Latent tuberculosis infection in myasthenia gravis patients in a low-incidence region	11
389P Natural history of bone health in Duchenne muscular dystrophy: A systematic review and implications for the design of a clinical trial	11
81P Minimal clinically important differences in dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study	11
365P Duchenne video assessment 2.0 scorecard performance: evaluation of inter-item and inter-scorecard relationships	10
130P Real-life outcome data on Risdiplam therapy for spinal muscular atrophy	10
370P Gait analysis in children with Duchenne muscular dystrophy: overground vs. treadmill walking	10
315P Cardio-metabolic and cytoskeletal proteomic signatures differentiate fear sensitivity in dystrophin-deficient mdx mice	10
245P Exploring the relationship between an instrumented walking test and community physical activity in individuals with congenital myasthenic syndrome	10
170P Apitegromab in spinal muscular atrophy: baseline characteristics of participants enrolled in the phase 3 SAPPHIRE study	10
332P Physician and caregiver concordance in Duchenne muscular dystrophy patients in Europe, Japan, and the USA: a multi-national survey	10
558P Contactin-1 antibody-associated chronic inflammatory demyelinating polyneuropathy (CIDP) in a pediatric patient: beyond the tip of an iceberg	9
13P Centronuclear myopathy in Dnm2 E368K mice: behavioral and pathological insights	9
574P Infectious muscles diseases: a comprehensive case study of 7 patients from Indian cohort	9
159P Acute liver failure failure post gene therapy in spinal muscular atrophy	9
34P Investigating sarcomeric changes in Cullin-3 knockout muscles	9
676P Impact of discontinuation and reintroduction of alglucoidase alpha in patients with late-onset Pompe disease	9

384P Functional Outcome Measures (FOMs) guiding clinical care of children with Duchenne muscular dystrophy	9
89P The LGMD2A/Calpainopathy Registry: a patient-powered natural history study and trial recruitment tool	9
446P Comorbidities and mortality of persons with adult-onset myotonic dystrophy – a Danish register-based study (Study I)	8
209P Custom orthosis improves mobility and caregiver experience in an adolescent with congenital myasthenic syndrome and myofibrillar myopathy	8
517P Clinical characteristics and genetic analysis of chronic progressive external ophthalmoplegia	8
366P Social Vulnerability in Duchenne Muscular Dystrophy: The Impact on Boys and Carrier Mothers	8
05P Pediatric cardiomyopathy may be more prevalent amongst ACTA1 mutation related myopathies: a single center case-series	8
521P Methodology and design of a study to characterize the disease course in a large dataset of patients with thymidine kinase 2 deficiency	8
173P A multidisciplinary approach to address the challenges posed by new phenotypes of symptomatic SMA patients treated with innovative therapies	8
02INV Emerging cellular Immunotherapies in acquired muscle disorders	8
455P Psoriasis and myotonic dystrophy type 1: another cutaneous manifestation of a multisystemic disorder	8
401P Moderate-term dimethyl fumarate treatment reduces fibrosis of skeletal and cardiac muscle in in the mdx mouse model of Duchenne muscular dystrophy	8
20P A novel DNM2 variant causing Centronuclear Myopathy with respiratory involvement	8
90P Genetic heterogeneity of limb girdle myopathies in Tunisia: more than sarcoglycanopathies	8
131P Social communication abilities in treated children with spinal muscular atrophy type 1 (SMA1): a cross-sectional study from two tertiary neuromuscular centres	8
343VP Duchenne muscular dystrophy: the critical role of pulmonary infection in survival outcomes	8
70P Defining the landscape of TIA1 and SQSTM1 digenic myopathy	8
197P Survival of SMA type 1 and type 0 infants at the time of disease modifying therapies: results of an 8-year nationwide registry	8
490P Reclassification of missense variant pathogenicity from a hereditary spastic paraplegia gene panel using ClinGen recommendations for in silico predictor scores	7
386P Dark-adaptation visual thresholds in Duchenne muscular dystrophy patients with genetic backgrounds affecting different dystrophin proteins	7
Late Breaking Abstracts	7
511P Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome	7
542P INSPIRE-IBM: an NIH-funded, two-year, multicenter, observational study in inclusion body myositis (IBM)-an update	7
664P From past to present: Pompe disease, pseudodeficiency, and genetic challenges	7
252P Natural history and quality of life study on muscular dystrophies in adulthood (Muskel-LIV): study design and conduct	7
299P Detailed natural history study of the D2-mdx and BL10-mdx models for Duchenne muscular dystrophy	7
145P Efficacy of SMA NBS: 4-year comparative study with control group	7
234P Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis	7
613P Contemporary use of ventricular assist devices in muscular dystrophy: a report from the ACTION learning collaborative	7
142P A preliminary machine learning retrospective observational study to predict treatment response to nusinersen in non-sitter spinal muscular atrophy	7
279P Exploring myogenic tremor in an animal model of MYBPC1-associated myopathy: a comprehensive study	7
203P Towards a better analysis of SMN2 structures and variants by complete sequencing of the SMN locus in an international cohort of 564 SMA patients	7
682P Differential splicing of OBSCN throughout human cardiac and skeletal muscle development	7
461P Evaluation of PGN-EDODM1: FREEDOM-DM1 and FREEDOM2-DM1 clinical trials in myotonic dystrophy type 1	7
686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome	7
201P Natural history of spinal muscular atrophy patients with 3 and 4 copies of SMN2 gene – data from the national Spanish registry (CUIDAME)	7
122P A retrospective review of changes in upper limb function following spinal surgery in spinal muscular atrophy	7
FP.41 Duchenne muscular dystrophy functional muscle organoid-on-a-chip for potential therapies evaluation	6
FP.42 Correction of point mutations in the DMD gene using the prime editing	6
156P Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia	6
404P CONNECT2-EDO51: a Phase 2 placebo-controlled study to evaluate PGN-EDO51 safety and efficacy in people with Duchenne amenable to exon 51 skipping	6
355P A comprehensive education and training programme for healthcare professionals in care and research for Duchenne muscular dystrophy developed from DMD Care UK and the DMD Hub	6
534P Clinical and genetic characterization of Brazilian patients with TK2 deficiency	6
VP.78 Clinical and genetic study of LAMA2-related muscular dystrophy patients with seizures	6
P147 Six-year long-term safety and efficacy of Golodirsen in patients with DMD vs mutation-matched external controls	6
P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy	6
VP.84 Growth hormone secretagogues in Duchenne muscular dystrophy: a preclinical evaluation of potential benefits on muscle function and morphology	6
P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings	6
140P Need for tube feeding in SMA type I patients treated with disease modifying therapies: bulbar function before treatment matters	6
239P The association between disease severity and utilities, mental health, fatigue, sleep disturbances and sick leave in patients with myasthenia gravis	6
63P Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy	6
93P The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort	6
Titin related myopathy with ophthalmoplegia. A novel phenotype	6
WMS 2022 Congress announcement	6
P141 Concordance of patient-reported outcomes measurement information system (PROMIS) questionnaires between caregivers and children with DMD	6
P443 A case of Charcot-Marie-Tooth Type 4F	6
P.203 Biomarkers for central nervous system involvement in Myotonic dystrophy type 1	6
673P Magnetization transfer imaging in late-onset Pompe disease	6
602P FISMA for high quality and interoperable real-world data on dystrophinopathies: FAIR from the start, from concept to reality	6
431P Exon 45 skipping and dystrophin production with ENTR-601-45 in preclinical models of Duchenne muscular dystrophy	6
149VP 3D stem cell-derived spinal cord/muscle organoid model for studying and treating neuromuscular diseases	6
388P Remote evaluation of functional outcomes in Duchenne muscular dystrophy: navigating opportunities and obstacles	6
P440 A new nationwide initiative to explore genetic variants in a large Turkish hereditary neuropathy cohort	6
P150 Factors affecting the measurement variability of SV95C in ambulant patients with Duchenne muscular dystrophy	6
P25 Single- and repeat-dose nonclinical data for PGN-EDO51 demonstrate potential for the treatment of Duchenne muscular dystrophy (DMD)	5
P331 The selection of biopsy sites in lower extremities for the diagnosis of vasculitis	5
P325 A comparative single nuclei transcriptomics approach to evaluating the terminally differentiated lymphocytes in autoimmune myositis	5
P327 Responsiveness of rituximab in refractory cases of inflammatory myopathies	5
P11 Parental experiences with newborn screening and gene replacement therapy for spinal muscular atrophy	5
P397 Prevalence of risk factors associated with cardiovascular events in patients with myotonic dystrophy type 1	5
P316 Disability questionnaire of FSHD1 correlates with the in-person examination	5
VP278 The emerging spectrum of fetal acetylcholine receptor antibody-associated disorders (FARAD)	5
P347 Toward an understanding of GSD5 (McArdle disease): How do patients learn to live with the metabolic defect in daily life?	5
P352 FDG PET/CT in multiple acyl-CoA dehydrogenase deficiency late-onset: a case report	5
P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA)	5
P14 U7snRNA-mediated exon skipping as a powerful therapeutic tool for the treatment of DMD	5
P322 Inclusion body myositis with early onset – a population-based study	5
P249 Early onset dilated cardiomyopathy in a 6-year-old boy with Duchenne muscular dystrophy	5
VP429 Impaired skeletal muscle strength in adult patients with laminopathies	5
P356 Novel TBCK variant and expanded clinical phenotype	5

Scientific title page	5
P442 Charcot Marie Tooth disease type 4J and FIG4 compound heterozygous mutation	5
P361 Acylcarnitine profiles in patients with mitochondrial myopathy under different physiological conditions	5
P23 Evaluation of safety parameters and dystrophin expression by sequential administration of exon-skipping and gene therapy in a DMDmdx mouse model	5
P333 Clinical, pathological heterogeneity and mitochondrial dysfunction in patients with anti-mitochondrial antibodies related myositis	5
P330 Profile of adult idiopathic inflammatory myopathy in Dr Cipto Mangunkusumo Hospital Indonesia as tertiary health care	5
P320 VMA21 conditional knockout mice model XMEA with myopathy and dysfunctional autophagy	5
P244 A family with Duchenne muscular dystrophy caused by a synonymous variant, DMD c.1098 A>T that affects splicing	5
P431 Steroid treatment may change natural history in congenital laminopathies	5
P390 PGN-EDODM1 nonclinical data demonstrate mechanistic and meaningful activity for potential treatment of myotonic dystrophy type 1 (DM1)	5
O19 Preliminary results from MLB-01-003: an open label phase 2 study of BBP-418 in patients with limb-girdle muscular dystrophy type 2I/R9	5
P395 Recommendations of an expert group for cardiac assessment of non-dystrophic myotonic adult patients treated with mexiletine	5
P362 Humanistic burden of neurodegenerative lysosomal disorders in the US: insights from caregivers of patients living with GM1 and GM2 gangliosidoses	5
P410 Liver involvement in myotubular and centronuclear Myopathy: data from the MTM & CNM patient registry	4
P314 A systematic literature review to assess the level of evidence in facioscapulohumeral muscular dystrophy	4
COLLAGEN RELATED MUSCLE DISEASES	4
P256 Development of a conceptual model of the patient experience of Becker muscular dystrophy (BMD) – a literature review and qualitative interview study	4
P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence	4
P379 Spanish Pompe registry: new data based on the 130 patients included	4
P261 The role of pathological miRNAs in Duchenne and Becker muscular dystrophy	4
P266 Gene expression profiles and spatial localisation of dystrophin isoforms in developing and adult human brain	4
P298 Controlled storage conditions improve specificity and sensitivity of a blood-based assay for dysferlinopathy: a pilot study in an Indian cohort	4
P304 JOURNEY: a multicenter, longitudinal natural history study of limb girdle muscular dystrophy	4
P405 First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2	4
VP286 Clinical, imaging, pathological, and molecular features of HNRNPDL-related muscular dystrophy	4
P31 Interim analysis of EVOLVE: evaluating Eteplirsen, Golodirsen, or Casimersen treatment in patients <7 years old in routine clinical practice	4
P287 Autosomal dominant and recessive variants within the C-terminal domain of HNRPDL cause a phenotypically similar LGMD	4
INV12 The exposome in neuromuscular disorders	4
VP.48 Clinicopathological characteristics of 105 patients with idiopathic inflammatory myopathy based on muscle specific antibodies	4
P251 Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in novel bmx model mice	4
P157 Development of a new mouse model to study GNE myopathy	4
P375 COMET: Safety of avalglucosidase alfa in patients with late-onset Pompe disease who switched treatment from alglucosidase alfa	4
P311 Facioscapulohumeral muscular dystrophy European patient survey: assessing patient preferences in clinical trial participation	4
P307 Bicistronic FKRP/FST gene therapy fully recovers normal ambulation and induces supranormal muscle strength in the FKRP(P448L) model of limb girdle muscular dystrophy 2I (LGMD2I)	4
P295 Functional improvements by ataluren in dysferlinopathy mice with a compound heterozygous mutations carrying one nonsense variant	4
P189 Dock7 is an essential driver of skeletal muscle health and function	4
P33 RKER-065 ameliorated muscle and bone loss in a progressive murine model of Duchenne muscular dystrophy	4
P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies	4
INV09 Novel repeat disorders in muscle disease: the emergence of OPDM	4
VP.40 Exploring barriers and facilitators to physical exercise in autoimmune myasthenia gravis : The MYaEX study	4
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants	4
P389 RevEal the burdeN on daily life for myotonic dyStrophy patients due to myotoniA: preliminary results of the ENSA survey	4
P164 Development of a myotube model for C-terminal titin studies	4
P368 Long-term enzyme replacement therapy with alglucosidase alfa in children and adults with late-onset Pompe disease	4
P400 Kbtbd13R408C-knockin mouse model elucidates mitochondrial pathomechanism in NEM6	4
P300 Relationships with health-related quality of life in FKRP-related limb-girdle muscular dystrophy R9: a prospective study	4
P32 Jak inhibitors Tofacitinib and Ruxolitinib do not improve functional deficits in dystrophin-deficient mdx mice	4
P37 Givinostat in DMD: results of the Epidys Study with particular attention to NSAA	4
NEUROMUSCULAR JUNCTION RELATED DISORDERS	3
DMD/BMD - GENETICS	3
SMA - TREATMENT	3
DMD – ANIMAL MODELS	3
CLINICAL TRIAL HIGHLIGHTS	3
P.108 Clinical and electrophysiological evaluation of fatigue in adult patients with spinal muscular atrophy (SMA)	3
O.03 Nemaline myopathy type 6: From pathology to therapeutics	3
DMD – ANIMAL MODELS	3
SMA – OUTCOME MEASURES AND REGISTRIES	3
P.36 Carrier frequency and genetic prevalence of autosomal recessive genetic neuromuscular disorders in Korea	3
SMA - TREATMENT	3
OTHER NMDs	3
POMPE DISEASE	3
LGMD	3
P.152 The novel ANXA11 variant p.Asp40Ile in a childhood-onset oculopharyngeal muscular dystrophy shows the pathogenic relevance of Asp40 in ANXA11 disorders	3
APPLICATION OF NEXT GENERATION TECHNOLOGIES	3
P260 The vitamin B3 analogue nicotinamide riboside has only very minor effects on reducing muscle damage in mdx mice	3
DMD – CLINICAL CARE	3
NEUROMUSCULAR JUNCTION RELATED DISORDERS	3
DMD – CLINICAL CARE	3
OTHER NMDs	3
VP.56a Real-world assessment of onasemnogene abeparvovec treatment in patients with spinal muscular atrophy: RESTORE/post-marketing surveillance in Japan	3
FP.01 Novel disease pathways and therapeutic developments in Kelch-related congenital nemaline myopathy	3
DISTAL MYOPATHIES	3
SMA - TREATMENT	3
REGISTRIES AND CARE OF NMD	3
SMA - TREATMENT	3
OTHER NMDs	3
LGMD	3
LGMD	3
P.144a Muscle ultrasound in an open-label study of losmapimod in subjects with FSHD1	3
NEW INSIGHTS INTO CELLULAR OR MUSCLE FUNCTION	3
LGMD	3
DMD – CLINICAL CARE	3
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9	3
DMD – ANIMAL MODELS	3
Welcome to the World Muscle Society in Halifax, Nova Scotia	3
P.101 Baseline characteristics/initial safety in RESPOND: phase 4 study of nusinersen in children with SMA who previously received onasemnogene abeparvovec	3
Scientific title page	3
HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype	3
SMA – OUTCOME MEASURES AND REGISTRIES	3
271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands	3
SMA - TREATMENT	3
POMPE DISEASE	3
LGMD	3
P.154 A novel TIA1 frameshift variant in a dominant myopathy family	3
MOTOR NEURON DISORDERS AND NEUROPATHIES	3