Neuromuscular Disorders

Article	Citations
WMS General Information	88
ENMC Themed Workshop announcement	46
WMS General Information	44
Editorial Board	41
ENMC Mid-Career Mentoring Programme	39
366P Social Vulnerability in Duchenne Muscular Dystrophy: The Impact on Boys and Carrier Mothers	36
P295 Functional improvements by ataluren in dysferlinopathy mice with a compound heterozygous mutations carrying one nonsense variant	35
P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings	34
P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency	30
P251 Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in novel bmx model mice	29
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants	28
P.144a Muscle ultrasound in an open-label study of losmapimod in subjects with FSHD1	26
P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters	24
P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients	24
P164 Development of a myotube model for C-terminal titin studies	23
P61 High dose localized muscle irradiation: Hedgehog pathway as a new therapeutic target	23
P145 Analysis of the natural evolution of SV95C in ambulant patients with Duchenne muscular dystrophy	21
P311 Facioscapulohumeral muscular dystrophy European patient survey: assessing patient preferences in clinical trial participation	21
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9	21
VP.28 Psychometric properties of muscle strength assessment by hand-held dynamometry in healthy adults: A reliability study	20
P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation	20
156P Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma in clinically silent and childhood-onset SMA individuals from Serbia	19
P443 A case of Charcot-Marie-Tooth Type 4F	19
253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands	19
P.135 Safety and tolerability of losmapimod for the treatment of FSHD	19

P137 Prophylactic use of cardiac medications and prolonged survival in Duchenne muscular dystrophy	19
624P A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy and familial amyotrophic lateral sclerosis.	17
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	17
326P Acute adverse events after Zoledronic acid infusion are uncommon in patients with Duchenne muscular dystrophy previously treated with oral bisphosphonates	16
95P Development of a myotropic gene therapy towards a first treatment for LGMDR7	16
279P Exploring myogenic tremor in an animal model of MYBPC1-associated myopathy: a comprehensive study	16
81P Minimal clinically important differences in dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study	16
389P Natural history of bone health in Duchenne muscular dystrophy: A systematic review and implications for the design of a clinical trial	15
17O Schwann cell transduction and PMP22 target engagement in non-human primates supports translation of RNAi-based gene therapy for CMT1A	15
WMS 2024 Full Programme	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
365P Duchenne video assessment 2.0 scorecard performance: evaluation of inter-item and inter-scorecard relationships	15
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	14
10O The neonatal screening of SMA in Ukraine: the 18 months of experience	14
686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome	13
209P Custom orthosis improves mobility and caregiver experience in an adolescent with congenital myasthenic syndrome and myofibrillar myopathy	13
271P Exploring the effects of the epi-drug Remodelin on murine myoblasts differentiation	13
534P Clinical and genetic characterization of Brazilian patients with TK2 deficiency	13
INV09 Novel repeat disorders in muscle disease: the emergence of OPDM	12
Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center	12
P.17 Importance of routine pulmonary check-up prior to ventilatory support in patients with Duchenne muscular dystrophy	12
P304 JOURNEY: a multicenter, longitudinal natural history study of limb girdle muscular dystrophy	12
276PQuantitative measurement of near full-length dystrophin and muscle content normalizer proteins in human muscle by IA-UPLC-MS/MS	12
409PDouble-blind, placebo-controlled study assessing effects of tranilast on motor, respiratory, and cardiac functions in Duchenne muscular dystrophy	11
674PDelpacibart zotadirsen (del-zota) increased dystrophin and improved muscle integrity markers regardless of ambulatory status in individuals with DMD44	11
191PComprehensive analysis of longitudinal SV95C measurements, an e-digital mobility assessment in a real-life DMD population in the GNT-014-MDYF natural history study	11
639PFunctional ability and quality of life in Duchenne muscular dystrophy	11
15PPrimary skeletal muscle peripheral T-cell lymphoma associated with HIV presenting with myopathic symptoms	11
144PXLMTM female carriers: a review of patient reported data collected by the MTM & CNM patient registry	10
35PThe impact of idiopathic inflammatory myopathy on quality of life: data from a tertiary healthcare in Indonesia	10
443PAcute respiratory failure in pregnancy: the presenting symptom of a disorder of gliomedin, an essential component of the nodes of Ranvier	10
67PMexiletine Paediatric Investigation Plan, PIP4 study: safety, pharmacokinetic and efficacy findings in children with myotonia	10
608PScoliosis development in SMA patients treated with nusinersen: a single-center experience	10
138PMuscle imaging of the patients with RYR1-related myopathies and its significance to clinical features	10
289PNatural history study of the D2-mdx mouse for Duchenne muscular dystrophy: a comparison across two independent study sites	10
628PUnraveling a veil: a rare genetic aberration causing muscular dystrophy in a female	10
122PSporadic late-onset nemaline myopathy with monoclonal gammapathy of unknown significance treated with melphalan and autologous hematopoietic stem cell transplantation	10
312PClinical and muscle MRI findings of Bethlem myopathy: case series	10
562PDanon disease in Japan: a nationwide additional analysis	10
231PSystemic deletion of Gne in adult mice results in thrombocytopenia, anemia, spontaneous bleeding, myopathy and premature death	9
587P White matter lesions and genetic muscular diseases: an overview	9
139P Treatment effects on ambulation loss in Spinal Muscular Atrophy Type III: insights from the Italian ISMAC registry	9
403P CONNECT1-EDO51: a 12-week open-label Phase 2 study to evaluate PGN-EDO51 safety and efficacy in people with Duchenne amenable to exon 51 skipping	9
505VP Safety and effectiveness of ravulizumab in gMG: evidence from a global registry	9
P33 RKER-065 ameliorated muscle and bone loss in a progressive murine model of Duchenne muscular dystrophy	9
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders	9
329P Siblings with Duchenne muscular dystrophy: a chart review to explore associations between age of diagnosis and clinical disease outcomes	9
Clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat i	9
597VP Vacuolar myopathy with permanent weakness: case report with imaging, muscle biopsy, and molecular features	9
Defining the landscape of TIA1 and SQSTM1 digenic myopathy	9

Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study	9
462P Evaluating EEG as an outcome measure for CNS Symptoms in myotonic dystrophy type 1: a clinical trial analysis	9
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study	9
Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants	9
594PEvaluating oxygen saturation and recovery dynamics in skeletal muscle during exercise in adults with spinal muscular atrophy	9
UPDATE IN NEUROMUSCULAR DISORDERS	9
22O Mexiletine versus lamotrigine in non-dystrophic myotonias – a randomised, double-blinded, cross-over trial	9
225P Initial data from the DELIVER trial of DYNE-251 in males with DMD Mutations amenable to Exon 51 skipping	9
A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype	9
496P Recessive missense variants in DARS2 gene as novel cause of axonal Charcot-Marie-Tooth disease	9
ENMC Themed Workshop announcement	9
A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review	9
286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025	9
Emerging and established biomarkers of oculopharyngeal muscular dystrophy	9
Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’	8
155P The experience of parents as they make treatment decisions for their child with spinal muscular atrophy and the factors that influence these decisions: a narrative review	8
523P Rare disease register: McArdle disease and glycogenoses	8
430VPCare of dystrophinopathy carriers: survey results of provider practices in the U.S.	8
218PPhenotype-genotype heterogeneity of multisystemic myopathies – a study from India	8
01O Interferon-γ causes myogenic cell dysfunction and senescence in immune myopathies	8
18PGuillain-Barré syndrome in children: insights from a 20-year retrospective cohort study at a tertiary referral center	8
298PAnalysis of long-term clinical and MRI findings highlights progressive nature of Ano5-related myopathies and the role of imaging as a valuable outcome measure	8
287P3D tissue engineered skeletal muscle to model dystrophinopathies and determine the efficacy of exon skip therapies	8
P.43 Evaluating knee ankle foot orthoses in children with type 1 spinal muscular atrophy	8
80P Evaluating the clinical significance of single heterozygous likely pathogenic and pathogenic variants for autosomal recessive limb-girdle muscular dystrophies in a highly specialised service for r	8
270PIndividuals with Duchenne muscular dystrophy have lower brain volumes, altered white matter microstructure and lower perfusion compared to controls	8
480PComparison of children with myasthenia gravis and congenital myasthenic syndrome: a case series	8
145PLycra foundation suit intervention in patients with RYR1-related congenital myopathy: a case study of functional improvement	8
580POrganizational, economic and environmental impacts of oral and intrathecal administrations for spinal muscular atrophy treatments in France	8
ENMC Themed Workshop announcement	8
581P Toxic autophagic vacuolar myopathies and the role of human leukocyte antigen class I molecules and membrane attack complex in its pathogenesis	8
531P The French registry of glycogen storage disease type 3	8
Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1	8
555PMultisystem involvement in oculopharyngodistal myopathy: insights into cardiac manifestations and genotype-phenotype correlations	8
346PExploring the natural history of late-onset TK2 deficiency: biomarkers and key outcomes	8
P392 Assessing the cognitive effect of methylphenidate treatment in childhood myotonic dystrophy type 1 and comorbid attention deficit hyperactivity disorder using eye tracking: a case report	7
INV11 Motor neuron and muscle involvement in SBMA: therapeutic implications	7
O18 Topline safety and efficacy data analysis of phase 1/2 clinical trial evaluating AOC 1001 in adults with myotonic dystrophy type 1: MARINA TM	7
P09 Real-world treatment with risdiplam in adults with spinal muscular atrophy (SMA): a multicenter study	7
P134 Energetics and acid-base status of skeletal muscle at rest and following isometric dorsiflexion and plantar flexion contractions in Duchenne muscular dystrophy	7
Obituary: Professor Annie Barois (1930-2024)	7
WMS General Information	7
P.145 Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies	7
75PJM17, a novel curcumin analog modulates mitochondrial, inflammatory, and fibrotic pathways in the muscle of a transgenic SBMA mouse: transcriptomic insights beyond NRF2 activation	7
P.144 Developing Cas13-ADAR-mediated DUX4 mRNA editing as a prospective therapy for FSHD	7
P418 Dominant cardioskeletal titinopathies reflect distinct mechanisms of disease	7
WMS 2022 Flyer	7
P346 Late and very late onset of McArdles’ myopathy without myoglobinuria	7
P262 Validation lab: allowing standardized in vitro and in vivo experiments for candidate treatments for Duchenne muscular dystrophy	7
Novel association of gluten sensitivity with immune-mediated neuromuscular syndrome in a dog	7
P194 The Duchenne registry: key milestones and advances of a patient-report registry	7
P412 Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy	7
P.204 Blood based biomarker discovery in DM1	7
O21 104-week efficacy and safety of cipaglucosidase alfa+miglustat in patients with late-onset Pompe disease previously treated with alglucosidase alfa	7
P109 The effect of a two-week intensive and individualized physiotherapy intervention for patients with rare genetic neuromuscular disorders: a quality improvement study	7
Editorial Board	7
INV02 High throughput functional assays to improve interpretation of rare variants discovered in neuromuscular disease genes	7
P.214 Utility of ENMG in children with rare genetic neurogenic disorders: a case series	7
VP.73 Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy	7
P.193 Phosphoryl guanidine-containing backbone modifications enhance exon skipping, dystrophin restoration and survival in a severe mouse model for DMD	7
I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease	7
VP.21 Baseline nutrition investigation in a Chinese cohort of pediatric patients with spinal muscular atrophy	7
635PFat fraction of the myocardium in Becker muscular dystrophy and women with patho-genic DMD gene variants	7
353PUnexpected attenuated phenotype in autosomal recessive progressive external ophthalmoplegia linked to a novel homozygous pathogenic RRM2B gene variant	6
452P Genetic confirmation of myotonic dystrophy type II after allogeneic stem cell transplant	6
524PLong-term use of disease-modifying therapies in spinal muscular atrophy – a population based study	6
222P Development of a standardized information model for rare neuromuscular diseases	6
279PCardiac affection in women carrying pathogenic variants in the dystrophin gene: a 7-year follow-up study	6
278PFlash electroretinogram alterations in the absence of distinct retinal dystrophins in different mouse models of Duchenne muscular dystrophy	6
Guide for location of abstracts	6
ENMC Themed Call 2023-2024 Announcement	6
192P A community-based experience with the new 12-Tier functional ability scale for Evolving Spinal Muscular Atrophy (EVOLVE-SMA)	6
P112 ‘Going when you have to’ – a national survey on problems in urinating when away from home for women with NMD - Project HAP-PEE part 2	6
Editorial Board	6
Evaluation of dynamin 2 knockdown as a therapeutic strategy for RYR1 related myopathy	6
583PAdd-on treatment with risdiplam after treatment with onasemnogene abeparvovec: case report of a 2.5-year-old patient with SMA type 1	6
648P MRI demonstrates altered skeletal muscle membrane permeability in Becker muscular dystrophy, representing a potential biomarker for disease activity	6
341PExposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy	6
162PInteraction studies of the titin A150 domain in C2C12 myotubes	6
388PNeurofilament light chain correlates with the motor function scales in myotonic dystrophy type 1	6

687VPModeling disease progression in Duchenne muscular dystrophy: reduced decline in forced vital capacity with givinostat compared with standard of care	6
371PInvestigating hand myotonia: determining best practices using novel technologies and approaches to assessing hand myotonia	6
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders	6
Clinical potential of microdystrophin as a surrogate endpoint	6
A New Chapter for Neuromuscular Disorders by C. Weihl	6
517PAdult SMA REACH: characterisation of adult patients living with spinal muscular atrophy at start of treatment in the UK	6
Antisense oligonucleotide-mediated redirection of Igf1 alternative polyadenylation	6
641PA cross-sectional comparison of ambulatory versus non-ambulatory patients with Duchenne muscular dystrophy (DMD) at 16 years of age	6
526P Clinical spectrum and treatment in paediatric TANGO2 deficiency disorder	6
620PFamily caregivers’ administrative burden for persons with Duchenne’s muscular dystrophy: a reflection of all stakeholders	6
584PVascular perfusion abnormalities in an infant with spinal muscular atrophy type 0	6
217PDirect and indirect socio-economic burden of facioscapulohumeral muscular dystrophy (FSHD): a national, cross-sectional study	6
146PClinical, molecular, and pathological characterization of MYL1-related congenital myopathy: report of two novel cases	6
10OSexual and pelvic floor function in women with muscular dystrophy	6
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study	6
The relationship between patient-reported and clinician-assessed outcome measures in Inclusion body myositis - insights from a retrospective cohort study	6
P50 A phase 1/2 randomized, placebo-controlled, multiple ascending dose study (ACHIEVE) of DYNE-101 in individuals with myotonic dystrophy type 1 (DM1)	6
INV04 Accounting for phenotypic variability in clinical outcomes	5
P234 Effect of Apitegromab on pedi-cat and promis-fatigue questionnaire at 36-months in patients with spinal muscular atrophy	5
P.40 The importance of bulbar/respiratory symptoms in spinal muscular atrophy: results from interviews with patients, caregivers and healthcare providers	5
258P Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old: phase 4 OFELIA study	5
524P Grip strength in McArdle disease	5
125P A review of the management and outcomes of children with SMA in the West Midlands, UK during 2017-2022	5
200P Minimal detectable change of the Revised Hammersmith Scale in patients with spinal muscular atrophy	5
671P Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe disease	5
634P Retrospective analysis of muscle biopsy findings in a cohort of patients with facioscapulohumeral dystrophy type 1	5
572P Dysphagia pattern in inclusion body myositis as a distinguishing feature: insight from a patient initially presenting with rapidly progressing dysphagia	5
317VP Overview of a cohort of 35 manifesting dystrophinopathy females – and addressing the forthcoming challenges	5
P51 Phase 1/2 study to evaluate AOC 1020 for adult patients with facioscapulohumeral muscular dystrophy: FORTITUDE trial design	5
P.111 Nusinersen in children and adults with spinal muscular atrophy in Argentina: Real world experienc	5
Neuropathic pain	5
566P ClC-1 chloride channel inhibition improves disease symptoms and survival in a rat model of muscle-specific kinase (MuSK) myasthenia gravis	5
25P Data trends and highlights from The Global Registry for COL6-related dystrophies	5
657P Cipaglucosidase alfa + miglustat in late-onset Pompe disease: two non-ambulatory patients switching from high-dose, high-frequency alglucosidase alfa	5
636P Longitudinal insights into childhood onset facioscapulohumeral dystrophy: a five-year natural history study	5
204P A phase 1 study of antisense oligonucleotide NS-035 in patients with Fukuyama congenital muscular dystrophy	5
590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy	5
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients	5
VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR	5
P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome	5
Editorial Board	5
66P Clinical and molecular complexity in desminopathy: description of a novel variant in DES gene	5
Table of Contents for the Main Abstracts	5
09O The clinical and molecular landscape of genetic neuromuscular disorders in Senegal, West Africa	5
693P Proposed NIH core for advanced genetic therapies: spotlight on clinical development of AAV products for neuromuscular disorders	5
586P Visualization of degenerative processes of the myofibers on muscle pathology in OPDM based on single nucleus RNA-seq data	5
27P Muscle ultrasound findings in paediatric patients with TTN gene related congenital myopathy	5
13INV AAV delivery of mini- and full-length dystrophins	4
Corrigendum to ‘The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever’ [Neuromuscular Disorders 32 (2022) 575–577]	4
Granulomatous myositis: characteristics and outcome from a monocentric retrospective cohort study	4
677P The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1	4
Contents	4
P.208 The neurocognitive phenotype of childhood Myotonic dystrophy type 1: A multicenter pooled analysis	4
VP.27 Potential of the Keeogo+, a lightweight wearable powered assistive exoskeleton in patients with neuromuscular disorders: preliminary findings	4
P.209 Prevalence of healthcare conditions and services used by patients with myotonic dystrophy (DM) pre- and post-diagnosis: A real-world data analysis	4
P318 Reduced calpain expression in a patient with fascioscapulohumeral muscular dystrophy	4
VP.46 Dermatomyositis-specific autoantibodies and muscle MRI findings	4
O03 In vivo gene therapy for striated muscle laminopathy	4
VP.29 Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease; a prospective study	4
INV15 RNA-targeted therapy for ALS	4
P223 Long-term follow-up of onasemnogene abeparvovec gene therapy in patients with spinal muscular atrophy (SMA) type 1	4
P22 WVE-N531 yields 53% mean exon 53 skipping in skeletal muscle of boys with Duchenne muscular dystrophy (DMD) after three biweekly doses	4
Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort	4
487P 2024 update of the national French consensus on gene lists for the diagnosis of muscular diseases using high-throughput sequencing	4
VP306 Computed tomography with color reconstruction in a group of R9 limb-girdle muscular dystrophy patients with c.1387A>G mutation	4
604P Descriptive analysis of Duchenne muscular dystrophy patients included in the Swedish National Registry for neuromuscular disorders	4
P284 Gene replacement therapy for telethonin related limb-girdle muscular dystrophy R7 utilizing novel myotrophic AAV capsids	4
P.89 Immune-mediated necrotizing myopathy associated with anti-SRP Antibodies: Three cases in Korea	4
P124 A series of dysferlinopathy patients showing fluctuations in muscle fat fraction and contractile cross-sectional area values (cCSA) over a 3-year follow-up period	4
P.134a Phase 1/2a trial of delandistrogene moxeparvovec in patients with DMD: 4-year update	4
O17 6’-sialyllactose supplementation in GNE myopathy: a pilot and subsequent placebo-controlled study	4
P72 Sensor-derived measurements of upper and lower extremity function in people with type II and III SMA	4
P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial	4
Pancreatitis in RYR1-related disorders	4
557P Skin manifestations of immune-mediated necrotizing myopathy with anti-HMGCR antibody	4
Prediction of respiratory impairment in myotonic dystrophies using the ‘Respiratory involvement symptom checklist’ (Respicheck)	4
P382 Disease spectrum of myopathies with elevated aldolase and normal creatine kinase	4
P.102 Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study	4
P323 Differences in clinicopathology and therapeutic response of idiopathic inflammatory myopathy with anti-SRP, HMGCR, and mitochondrial M2 antibodies	4
VP71 Exploring the construct validity and reliability of sensor-based measurements derived from active motor assessments in adult walkers with SMA	4
P335 Inhibition of KDM5A reverses pathological features in sporadic Inclusion Body Myositis-like cell models	4
Muscular phenotype description of abnormal THOC2 splicing	3
566POptimization of in vitro models’ generation to unveil the molecular pathomechanisms underlying PLIN4-related myopathy	3
330PCardiovascular risk factors and atheromatosis in spinobulbar muscular atrophy (SBMA) Kennedy in association with lipid and hormone profile	3
Respiratory function and sleep in children with myotonic dystrophy type 1	3
VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa	3
650VPNeuropsychiatric assessment in adults with Duchenne muscular dystrophy	3
475PHigher risk of fractures in myasthenia gravis patients in comparison with general population – national healthcare database study	3
20PRituximab in treatment-refractory childhood-onset immune-mediated necrotizing myopathy: a case series	3
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease	3
Long term safety and efficacy of lamotrigine in patients with non-dystrophic myotonia, a single-centre prospective study	3
157PCell painting for the study of SELENON-congenital myopathy cell models	3
504VPLimb-girdle muscular dystrophy R1 in Egyptian and regional patients: clinical spectrum, genetics, and registry insights	3
431PPediatric genetic neuromuscular disease in Jordan; high diagnostic yield and emerging phenotypes via next generation sequencing	3
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)	3