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                             394 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 FP.29 AAV-CRISPR-Cas13 gene therapy for FSHD: DUX4 gene silencing efficacy and immune responses to Cas13b protein Rashnonejad, A.
32 S1 p. S103-S104
 artikel
2 FP.40 A cross-sectional study on LAMA2-related muscular dystrophy and SELENON-related myopathy, the first results of the LAST STRONG Study Bouman, K.
32 S1 p. S121
 artikel
3 FP.15 AI-powered cell profiling enables the functional evaluation of therapies targeting muscle disorders in patient-derived myotubes Darimont, B.
32 S1 p. S66
 artikel
4 FP.09 Analysis of muscle MRI of a large cohort of chronic motor neuropathy/neuronopathy patients reveals characteristic features useful for diagnosis Esteller, D.
32 S1 p. S56
 artikel
5 FP.39 An international retrospective early natural history study of LAMA2-related dystrophies Orbach, R.
32 S1 p. S120
 artikel
6 FP.31 ANXA11 related adult-onset muscular dystrophy in Greek families Johari, M.
32 S1 p. S107
 artikel
7 FP.12 Application for primary endpoint qualification of the 95th centile of stride velocity (SV95C) in Duchenne muscular dystrophy Annoussamy, M.
32 S1 p. S65
 artikel
8 FP.33 Ataluren treatment in 30-week-old dysferlinopathy mouse with nonsense mutation Seo, K.
32 S1 p. S112
 artikel
9 FP.32 BAG3 p.P209L variant leads to changes in nuclear and actomyosin dynamics and impairment of the transmission of mechanical signals Robertson, R.
32 S1 p. S107
 artikel
10 FP.23 Bulbar function for patients with spinal muscular atrophy type 1 following onasemnogene abeparvovec McGrattan, K.
32 S1 p. S85
 artikel
11 FP.37 CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model Tokuoka, H.
32 S1 p. S120
 artikel
12 FP.34 Clinical outcome study of dysferlinopathy: correlation between MRI fat fraction in lower limbs and clinical outcome assessments over a 3-year period Smith, F.
32 S1 p. S112-S113
 artikel
13 FP.10 Combination of BIO101 with antisense oligonucleotide therapy demonstrates synergistic beneficial effects in severe SMA-like mice Bezier, C.
32 S1 p. S58
 artikel
14 FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation Polavarapu, K.
32 S1 p. S79
 artikel
15 FP.43 Congenital myotonic dystrophy patients exhibit unique patterns of transcriptomic dysregulation independent of CTG repeat expansion Johnson, N.
32 S1 p. S129
 artikel
16 FP.25 Contracture management in ambulant boys with Duchenne muscular dystrophy (DMD) Moat, D.
32 S1 p. S97-S98
 artikel
17 FP.42 Correction of point mutations in the DMD gene using the prime editing Mbakam, C. Happi
32 S1 p. S125
 artikel
18 FP.13 Diffusion-tensor MRI captures increased diameter and size heterogeneity of skeletal muscle fibres in Becker muscular dystrophy, as verified by histology Cameron, D.
32 S1 p. S65
 artikel
19 FP.41 Duchenne muscular dystrophy functional muscle organoid-on-a-chip for potential therapies evaluation Fernández-Costa, J.
32 S1 p. S125
 artikel
20 FP.14 Dystrophin and satellite cell quantification in Duchenne and Becker muscular dystrophies Nicolau, S.
32 S1 p. S65-S66
 artikel
21 FP.26 Early effect of corticosteroids on functional outcomes in young patients with Duchenne muscular dystrophy within the first 18 months of treatment Marianela, S.
32 S1 p. S98
 artikel
22 FP.08 Evaluating the expression of spontaneous movements in infants with neuromuscular conditions using Prechtl's General Movements Assessment Iammarino, M.
32 S1 p. S56
 artikel
23 FP.07 Experiences with systematic video recordings of individualized physiotherapy for 111 patients with neuromuscular disorders in a 7-year quality project Rosenberger, A.
32 S1 p. S55-S56
 artikel
24 FP.44 Exploring the role of MuscleBlind-Like proteins in the regulation of CaVB1 isoform expression in adult skeletal muscle Vergnol, A.
32 S1 p. S129
 artikel
25 FP.05 From the Muscle Atlas to an AI-based diagnostic tool Meyer, C.
32 S1 p. S55
 artikel
26 FP.36 Genetic variants in DTNA cause a mild dominantly inherited muscular dystrophy Nascimento, A.
32 S1 p. S113
 artikel
27 FP.28 IGNITE DMD phase I/II study of SGT-001 microdystrophin gene therapy for DMD: Long-term outcomes and expression update Dreghici, R. Donisa
32 S1 p. S98
 artikel
28 FP.11 Impact of disease-modifying therapies on myostatin levels in SMA patients Mackels, L.
32 S1 p. S58
 artikel
29 FP.38 Linker protein-mediated gene therapy ameliorates muscle and nerve pathology in mouse models for LAMA2-related congenital muscular dystrophy Reinhard, J.
32 S1 p. S120
 artikel
30 FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02) Schoser, B.
32 S1 p. S73
 artikel
31 FP.18 Modified ketogenic diet in patients with McArdle disease: A double-blind, placebo-controlled, cross-over study Løkken, N.
32 S1 p. S73
 artikel
32 FP.02 Mutation in KBTBD13 causes stiffening of thin filaments in skeletal muscle Conijn, S.
32 S1 p. S44
 artikel
33 FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy Moore, U.
32 S1 p. S113
 artikel
34 FP.01 Novel disease pathways and therapeutic developments in Kelch-related congenital nemaline myopathy Mansur, A.
32 S1 p. S44
 artikel
35 FP.19 Quantification of glycogen distribution in late-onset Pompe patients using 7 Tesla C13 NMR spectroscopy Beha, G.
32 S1 p. S73
 artikel
36 FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA) Finkel, R.
32 S1 p. S85-S86
 artikel
37 FP.22 Results from the end of Part A of the ongoing 3-part DEVOTE study to explore higher doses of nusinersen in SMA Day, J.
32 S1 p. S85
 artikel
38 FP.27 Results of a double-blind cross-over trial of vamorolone in DMD: A safer alternative to corticosteroids Hoffman, E.
32 S1 p. S98
 artikel
39 FP.20 Serum metabolomics differentiates treatment response of myasthenia gravis clinical outcome measures Kaminski, H.
32 S1 p. S79
 artikel
40 FP.16 The effects of resistance exercise training on mitochondrial myopathy patients Leo, V. Di
32 S1 p. S72
 artikel
41 FP.03 The spine fracture burden in boys with DMD treated with the novel dissociative steroid vamorolone versus deflazacort and prednisone Ward, L.
32 S1 p. S49
 artikel
42 FP.04 Three-year natural history study in Becker muscular dystrophy in The Netherlands Schrama, E.
32 S1 p. S49
 artikel
43 FP.30 TREAT-NMD FSHD Global Registry Network: A collaboration of neuromuscular and FSHD patient registries Porter, B.
32 S1 p. S104
 artikel
44 FP.06 Use of an exercise challenge system to define a universal proteomic signature of muscle injury in a diverse set of adults with inherited myopathy Stemmerik, M.
32 S1 p. S55
 artikel
45 Full programme
32 S1 p. S9-S41
 artikel
46 HALIFAX Author index
32 S1 p. S137-S153
 artikel
47 I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease Eichinger, K.
32 S1 p. S94
 artikel
48 I.01Congenital myasthenic syndromes Lochmüller, H.
32 S1 p. S42
 artikel
49 I.04 Congenital myopathies in adulthood: the other end of the spectrum Voermans, N.
32 S1 p. S43
 artikel
50 I.11 Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species Tabebordbar, S.
32 S1 p. S96
 artikel
51 I.10 Gene therapy and other novel treatment approaches for CMT Pareyson, D.
32 S1 p. S95
 artikel
52 I.09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design Delourme, M.
32 S1 p. S95
 artikel
53 I.06 Late onset forms of inherited neuropathies Auer-Grumbach, M.
32 S1 p. S93
 artikel
54 I.12 Modulating muscle stem cells to enhance regeneration to ameliorate DMD disease progression Rudnicki, M.
32 S1 p. S96
 artikel
55 I.08 Motor neuron disease caused by excess sphingolipid synthesis Mohassel, P.
32 S1 p. S94
 artikel
56 I.15 Neuromuscular Disorders with Founder Effects in French Canada: why, where and how they contribute to the NMD field Brais, B.
32 S1 p. S136
 artikel
57 I.03 Novel mechanisms and new therapies for congenital myopathies Dowling, J.
32 S1 p. S43
 artikel
58 I.05 Preclinical testing of emerging therapies for inherited peripheral neuropathies Burgess, R.
32 S1 p. S93
 artikel
59 I.02 Titin – The newly-emerged "titan" of the cardiac and skeletal muscle disease world Oates, E.
32 S1 p. S42
 artikel
60 Late breaking abstracts
32 S1 p. S154-S202
 artikel
61 Late breaking author index
32 S1 p. S203-S210
 artikel
62 O.08 Biallelic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase (PCK2) cause a recessive form of Charcot-Marie-Tooth disease Sondheimer, N.
32 S1 p. S93
 artikel
63 O.01 Correlating molecular genetic testing for rare genetic variants with a broad clinicopathologic spectrum of congenital myopathies Jayaraman, D.
32 S1 p. S42
 artikel
64 O.14 EEV-Conjugated PMO results in nuclear foci reduction and aberrant splicing correction in myotonic dystrophy cell and animal models Grigenrath, M.
32 S1 p. S96
 artikel
65 O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety Bharucha-Goebel, D.
32 S1 p. S94
 artikel
66 O.09 Gene therapy of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) Denard, J.
32 S1 p. S94
 artikel
67 O.13 Givinostat in DMD: results of the Epidys Study Mercuri, E.
32 S1 p. S95-S96
 artikel
68 O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy Folland, C.
32 S1 p. S94-S95
 artikel
69 O.04 Improvement of muscle strength in a mouse model for recessive RYR1-related congenital myopathy treated with HDAC and inhibitors Ruiz, A.
32 S1 p. S43
 artikel
70 O.06 Long term outcomes for X-Linked myotubular Myopathy (XLMTM) with gene replacement therapy, resamirigene bilparvovec: Preliminary results from ASPIRO Shieh, P.
32 S1 p. S44
 artikel
71 O.17 Mining extracellular vesicles for novel RNA-based therapeutic agents in Duchenne muscular dystrophy Rogers, R.
32 S1 p. S97
 artikel
72 O.15 Muscular MRI pattern recognition for muscular dystrophies: The era of artificial intelligence beyond a systematic review Alawneh, I.
32 S1 p. S96
 artikel
73 O.03 Nemaline myopathy type 6: From pathology to therapeutics Galli, R.
32 S1 p. S43
 artikel
74 O.12 Novel functional test to distinguish between variants causing dominant and recessive forms of calpainopathy Salvi, A.
32 S1 p. S95
 artikel
75 O.18 Preliminary results from MLB-01-003: an open label phase 2 study of BBP-418 in patients with limb-girdle muscular dystrophy type 2I Harper, A.
32 S1 p. S97
 artikel
76 O.05 Silencing of the Ca2+ channel ORAI1 improves the multi-systemic phenotype of tubular aggregate myopathy and Stormorken syndrome in mice Silva-Rojas, R.
32 S1 p. S44
 artikel
77 O.16 Single cell RNA sequencing study of FAPS obtained from muscle samples of DMD patients reveals new pathogenic pathways of the muscle degeneration process Calvet, X. Suarez
32 S1 p. S97
 artikel
78 O.07 TDP43 accumulates in intramuscular nerve bundles of ALS patients Kurashige, T.
32 S1 p. S93
 artikel
79 O.02 The phenotypic spectrum of DNM2-related centronuclear myopathy Hayes, L.
32 S1 p. S42-S43
 artikel
80 P.172 AAV-mediated strategy for TCAP gene correction as a new treatment for LGMDR7/LGMD2G dystrophy Gushchina, L.
32 S1 p. S117
 artikel
81 P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in the HNRNPA1 gene Hackman, P.
32 S1 p. S109
 artikel
82 P.183 A case of limb-girdle muscular dystrophy D2 with TNPO3 mutation in Korea Lee, J.
32 S1 p. S119
 artikel
83 P.201 A case of periodic paralysis attending with myotonia and family screening Tuncer, G. Oz
32 S1 p. S129
 artikel
84 P.12 A case report of near normalization of serum creatine phosphokinase in a patient with Duchenne muscular dystrophy during acute pancreatitis Zygmunt, A.
32 S1 p. S49
 artikel
85 P.29 Accelerating clinical development of new therapeutics with patient data: evidence from the collaborative Trajectory Analysis Program (cTAP) in DMD McDonald, C.
32 S1 p. S53-S54
 artikel
86 P.55 A concisely recorded ambulatory assessment for enhancing real-world outcomes research in Duchenne muscular dystrophy: Development and validation Mayhew, A.
32 S1 p. S66
 artikel
87 P.139 A cross sectional study of genetically confirmed cohort of facioscapulohumeral muscular dystrophy (FSHD) in the Indian population Vishnu, V.
32 S1 p. S105
 artikel
88 P.47 Adaptive test for neuromuscular disorders: Design of a wheelchair-based assessment Duong, T.
32 S1 p. S61
 artikel
89 P.45 Adult SMA REACH: an integrated model to facilitate transition of data and longitudinal data collection of clinician and patient entered data Fitzsimmons, S.
32 S1 p. S61
 artikel
90 P.41 Adult SMA REACH: development and implementation data collection study in the UK Adult SMA population Simon, S. Segovia
32 S1 p. S60
 artikel
91 P.22 Age at loss of ambulation in patients with DMD from the STRIDE registry and the CINRG natural history study: A matched cohort analysis Mercuri, E.
32 S1 p. S52
 artikel
92 P.01 A KLHL40 3′UTR splice-altering variant causes milder NEM8 Dofash, L.
32 S1 p. S45
 artikel
93 P.39 Altered functional connectivity in motor regions in children with spinal muscular atrophy Mugisha, N.
32 S1 p. S59
 artikel
94 P.127 A multi-disciplinary, independent expert approach to improve translational research in NMDs at all stages of the pipeline: Developments in the TACT model Turner, C.
32 S1 p. S100-S101
 artikel
95 P.213a Multimodal fusion of neuroimaging and neuropsych data: A machine learning approach to study brain alterations linked with cognitive domains in DM1 Kamali, T.
32 S1 p. S132
 artikel
96 P.31 A multiparametric quantitative NMR study at rest and during exercise in subjects between 22 and 65 years of age: Preliminary results Kolkovsky, A. Lopez
32 S1 p. S56-S57
 artikel
97 P.144a Muscle ultrasound in an open-label study of losmapimod in subjects with FSHD1 Kools, J.
32 S1 p. S106
 artikel
98 P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry Marín, R. Martínez
32 S1 p. S76
 artikel
99 P.14 Analysis of the longitudinal CINRG Becker natural history study dataset Clemens, P.
32 S1 p. S50
 artikel
100 P.177 Analysis of the proximo-distal gradients of fat replacement along the length of thigh muscles in LGMDR12 patients De Wel, B.
32 S1 p. S118
 artikel
101 P.138 Annualized rates of change from a phase 2, randomized, double-blind, placebo-controlled, 48-week study of losmapimod in subjects with FSHD: ReDUX4 Tawil, R.
32 S1 p. S105
 artikel
102 P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome Hedberg-Oldfors, C.
32 S1 p. S59
 artikel
103 P.154 A novel TIA1 frameshift variant in a dominant myopathy family Sarparanta, J.
32 S1 p. S110
 artikel
104 P.134a Phase 1/2a trial of delandistrogene moxeparvovec in patients with DMD: 4-year update Mendell, J.
32 S1 p. S102-S103
 artikel
105 P.210 A phase 1/2 clinical trial evaluating the safety and pharmacokinetics of AOC 1001 in adults with myotonic dystrophy type 1: MARINA study design Johnson, N.
32 S1 p. S131
 artikel
106 P.123 A Phase I/II study of NS-089/NCNP-02, Exon 44 skipping drug, in patients with Duchenne muscular dystrophy Komaki, H.
32 S1 p. S99-S100
 artikel
107 P.102 Apitegromab in SMA: An analysis of multiple efficacy endpoints in the TOPAZ extension study Crawford, T.
32 S1 p. S86-S87
 artikel
108 P.54 Assessment of fine motor abilities using new touchscreen application, among children with spinal muscular atrophy (SMA)- a pilot study Klemm, I.
32 S1 p. S62
 artikel
109 P.59 Associations between body composition estimates and motor function in ambulatory individuals with Duchenne muscular dystrophy Kiefer, M.
32 S1 p. S67
 artikel
110 P.36a "suMus", a novel digital system for arm movement metrics and muscle energy expenditure in neuromuscular diseases Gerhalter, T.
32 S1 p. S58
 artikel
111 P.200 Automated quantification of dystrophin immunofluorescence in human and mouse muscle sections Vetter, T.
32 S1 p. S127
 artikel
112 P.101 Baseline characteristics/initial safety in RESPOND: phase 4 study of nusinersen in children with SMA who previously received onasemnogene abeparvovec Proud, C.
32 S1 p. S86
 artikel
113 P.144b Feasibility of measuring functional performance of FSHD patients using wearable sensors to quantify physical activity Kools, J.
32 S1 p. S107
 artikel
114 P.203 Biomarkers for central nervous system involvement in Myotonic dystrophy type 1 Varghese, A.
32 S1 p. S130
 artikel
115 P.204 Blood based biomarker discovery in DM1 van As, D.
32 S1 p. S130
 artikel
116 P.131 Building a FORCETM platform-based DMD franchise for the treatment of individuals with mutations amenable to exon skipping Desjardins, C.
32 S1 p. S101-S102
 artikel
117 P.98 Calculating the genetic prevalence of congenital myasthenic syndromes based on data from genomic databases Thompson, R.
32 S1 p. S82
 artikel
118 P.36 Carrier frequency and genetic prevalence of autosomal recessive genetic neuromuscular disorders in Korea Lee, H.
32 S1 p. S57-S58
 artikel
119 P.82 Case-Control cardiopulmonary exercise testing for patients with neuromuscular disease Duong, T.
32 S1 p. S75
 artikel
120 P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial Iannaccone, S.
32 S1 p. S102
 artikel
121 P.217 Cervical spinal cord MRI parameters as predictors of early degeneration in asymptomatic C9Orf72 carriers: a longitudinal study. Querin, G.
32 S1 p. S134-S135
 artikel
122 P.146 Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts Storey, E.
32 S1 p. S108
 artikel
123 P.07 Characterization of MRI brain abnormalities in X-linked myotubular myopathy Vogt, L.
32 S1 p. S46
 artikel
124 P.108 Clinical and electrophysiological evaluation of fatigue in adult patients with spinal muscular atrophy (SMA) Iwabe, C.
32 S1 p. S88
 artikel
125 P.94 Clinical and pathologic features of clinically diagnosed inclusion body myositis (IBM) patients in Korea Kang, M.
32 S1 p. S81
 artikel
126 P.96 Clinical characteristics of patients with seronegative myasthenia gravis Andersen, R.
32 S1 p. S81
 artikel
127 P.178 Clinical classification of variants in the valosin containing protein gene associated with multisystem proteinopathy Manera, J. Díaz
32 S1 p. S118-S119
 artikel
128 P.97 Clinical differences between ocular and generalized myasthenia gravis Axelsen, K.
32 S1 p. S81-S82
 artikel
129 P.160 Clinical outcome assessments in limb girdle muscular dystrophy R1/2A Poelker, S.
32 S1 p. S114
 artikel
130 P.164 Clinical outcome study of dysferlinopathy 2: Characterising involvement of the intrinsic muscles of the hand in LGMDR2 James, M.
32 S1 p. S115
 artikel
131 P.167 Clinical outcome study of dysferlinopathy: gait analysis of siblings and phenotype variation James, M.
32 S1 p. S116
 artikel
132 P.165 Clinical outcome study of dysferlinopathy: Lower limb water T2 predicts functional decline in patients with dysferlinopathy Moore, U.
32 S1 p. S115
 artikel
133 P.162 Clinical outcome study of dysferlinopathy: Performance of upper limb entry item to predict forced vital capacity in dysferlinopathy (LGMDR2) James, M.
32 S1 p. S114
 artikel
134 P.166 Clinical outcome study of dysferlinopathy: The impact of lower limb orthoses on gait- a longitudinal single case study James, M.
32 S1 p. S115
 artikel
135 P.11 Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with congenital myopathy Liang, W.
32 S1 p. S47
 artikel
136 P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency Lee, H.
32 S1 p. S74
 artikel
137 P.179 Clinical trial readiness and validation of onsite and remote evaluation in valosin containing protein-associated multisystem proteinopathy Alfano, L.
32 S1 p. S119
 artikel
138 P.117 Collection of real-world evidence of nusinersen treatment for SMA patients through a national registry: description of the paediatric cohort in the UK Rohwer, A.
32 S1 p. S90
 artikel
139 P.21 Comorbidity and leading causes of death in children and adolescents with Duchenne muscular dystrophy Wahlgren, L.
32 S1 p. S51
 artikel
140 P.122 Comparative safety and efficacy of different corticosteroid regimens in boys with Duchenne muscular dystrophy: results of a randomized controlled trial Guglieri, M.
32 S1 p. S99
 artikel
141 P.63 Comparison of brain volume reduction in boys with Duchenne muscular dystrophy treated with different corticosteroid regimes Geuens, S.
32 S1 p. S68
 artikel
142 P.18 Comparison of the performance of the upper limb module in children with Becker muscular dystrophy, Duchenne muscular dystrophy and healthy controls Wolfe, A.
32 S1 p. S51
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143 P.10 Compound CACNA1S heterozygosity resulting in a novel phenotype of congenital myopathy and early onset periodic paralysis: report of two probands Aburahma, S.
32 S1 p. S47
 artikel
144 P.09 Comprehensive database for RYR1-related disorders: concept and progress update Lawal, T.
32 S1 p. S46
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145 P.190 Congenital muscular dystrophy associated to conserved oligomeric Golgi complex subunit 1 homozygous mutation Balkenhol, J.
32 S1 p. S122
 artikel
146 P.24 Consensus and collaboration approach to better defining and implementing harmonised standards of care across a healthcare system: Examples from DMD care Turner, C.
32 S1 p. S52
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147 P.65 Consistency of changes in percent-predicted forced vital capacity between real-world data and trial placebo arms in ambulatory Duchenne muscular dystrophy Goemans, N.
32 S1 p. S68-S69
 artikel
148 P.159 Correlation of clinical outcome parameters in patients with LGMDR1 with quantitative muscle MRI of the leg muscles Guettsches, A.
32 S1 p. S113-S114
 artikel
149 P.30 Correlation of histopathological skeletal muscle biopsy features with quantitative muscle-MRI parameters Guettsches, A.
32 S1 p. S56
 artikel
150 P.44 Cost-effectiveness of spinal muscular atrophy newborn screening in Belgium Dangouloff, T.
32 S1 p. S60
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151 P.42 CuidAME: Registry for longitudinal data collection of Spanish SMA patients Segovia-Simon, S.
32 S1 p. S60
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152 P.133 Daily regimens of prednisone, deflazacort and vamorolone improve motor function similarly in patients with Duchenne muscular dystrophy McDonald, C.
32 S1 p. S102
 artikel
153 P.184 Defining the pathological natural history of LAMA2 muscular dystrophy Hopp, A.
32 S1 p. S121
 artikel
154 P.147 Deflazacort treatment in LMNA-related congenital muscular dystrophy: an ongoing Italian cohort pilot study Ricci, G.
32 S1 p. S108
 artikel
155 P.136 Design of Reach: Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD Tawil, R.
32 S1 p. S104
 artikel
156 P.171 Detection of alpha-dystroglycan glycation in muscle biopsies using a multiplexed western blot method Rodriguez, H.
32 S1 p. S117
 artikel
157 P.52 Determination of DLC1 isoform 1 (DLC1-i1) as a gene therapy for the treatment of spinal muscular atrophy Shi, T.
32 S1 p. S62
 artikel
158 P.144 Developing Cas13-ADAR-mediated DUX4 mRNA editing as a prospective therapy for FSHD Saljoughian, N.
32 S1 p. S106
 artikel
159 P.67 Development and evaluation of a time to event endpoint for clinical trials in Duchenne muscular dystrophy (DMD) McDonald, C.
32 S1 p. S69
 artikel
160 P.194 Development of a novel, EEV-Conjugated PMO for Duchenne muscular dystrophy Kreher, N.
32 S1 p. S126
 artikel
161 P.180 Diagnostic range of targeted next-generation sequencing in a single center experience with limb-girdle muscular dystrophy Lee, S.
32 S1 p. S119
 artikel
162 P.149 Differential expression of intermediate filament proteins: lamins A/C and desmin within and between adult skeletal muscles Shaqoura, E.
32 S1 p. S109
 artikel
163 P.206 Diffusion tensor imaging (mDTI) in myotonic dystrophy type 1 and type 2 Guettsches, A.
32 S1 p. S130
 artikel
164 P.125 DMD Hub: A UK network enabling trials in Duchenne muscular dystrophy Heslop, E.
32 S1 p. S100
 artikel
165 P.121 Dnm2 reduction combined with dystrophin re-expression ameliorates the myopathic phenotype observed in the D2-mdx model of Duchenne muscular dystrophy Menuet, A.
32 S1 p. S99
 artikel
166 P.157 Dominant HSPB6 mutation in a myopathy patient Sarparanta, J.
32 S1 p. S110-S111
 artikel
167 P.91 Double seropositive inflammatory myositis with anti-PL-7 and anti-Mi-2 antibodies Lee, M.
32 S1 p. S80
 artikel
168 P.198 Durable AOC mediated exon 44 skipping in non-human primate muscle tissue and dystrophin protein restoration in DMD patient derived skeletal muscle cells Karamanlidis, G.
32 S1 p. S127
 artikel
169 P.188 Early growth and metabolic abnormalities in zebrafish and cellular models of SELENON-related myopathy Barraza-Flores, P.
32 S1 p. S122
 artikel
170 P.124 EDG-5506 targets fast skeletal myosin and reduces muscle damage biomarkers in a phase 1 trial in Becker muscular dystrophy (BMD) Donovan, J.
32 S1 p. S100
 artikel
171 P.93 Effect of rapamycine on quantitative MRI outcome measures in inclusion body myositis Reyngoudt, H.
32 S1 p. S81
 artikel
172 P.223 Electrophysiologic evidence of MORC2 pathogenic variant with motor neuron involvement: a case report Mekmangkonthong, A.
32 S1 p. S136
 artikel
173 P.43 Evaluating knee ankle foot orthoses in children with type 1 spinal muscular atrophy Rohwer, A.
32 S1 p. S60
 artikel
174 P.197 Evaluating pharmacology and efficacy of delandistrogene moxeparvovec in young and aged DMDMDX rats Potter, R.
32 S1 p. S127
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175 P.186 Evaluating the feasibility of functional outcomes and biomarkers in young patients with laminin alpha2-related dystrophies performed in clinic or remote Alfano, L.
32 S1 p. S121
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176 P.116 Evaluating 2-3 year responses to disease modifying treatment in adults with spinal muscular atrophy Duong, T.
32 S1 p. S90
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177 P.185 Evaluation of brain microstructure in LAMA2 related muscular dystrophy by NODDI; A pilot study Tuncer, G. Oz
32 S1 p. S121
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178 P.176 Evaluation of thigh muscle fat fraction with quantitative MRI in 24 adult LGMDR12 patients over 2 years of follow-up De Wel, B.
32 S1 p. S118
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179 P.20 Experiences of and perspectives on bullying in youth with myopathies Chatur, N.
32 S1 p. S51
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180 P.109 FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) Servais, L.
32 S1 p. S88
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181 P.115 Functional follow-up of patients with spinal muscular atrophy treated post-symptomatically with spinraza: Clinical trial versus real life Lilien, C.
32 S1 p. S90
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182 P.84 Gait analysis of patients with Pompe disease using a portable system Claramunt, M.
32 S1 p. S76
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183 P.35 Genetic newborn screening and digital technologies to accelerate rare disease diagnosis: The EU-IMI screen4Care project Ferlini, A.
32 S1 p. S57
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184 P.76 Gene variant and neuromuscular findings from a long-chain fatty acid oxidation disorder gene panel program Marsden, D.
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185 P.148 Genotype-phenotype correlations in human diseases caused by mutations of LINC complex-associated genes: a systematic review and meta-summary Storey, E.
32 S1 p. S108
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186 P.126 Genotype-unmatched controls are feasible for drug development in Duchenne muscular dystrophy (DMD) Muntoni, F.
32 S1 p. S100
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187 P.175 Global FKRP registry - the research database for limb girdle muscular dystrophy R9 (2I) Murphy, L.
32 S1 p. S118
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188 P.75 GM2 Gangliosidoses patient journey: Results from interviews with Late-Onset GM2 patients and frontline treaters Lopshire, M.
32 S1 p. S74
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189 P.192 High-throughput screening of antifibrotic and antiadipogenic drugs using human FAP cells Simon, E. Fernandez
32 S1 p. S125-S126
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190 P.119 Home infusion for antisense oligonucleotide therapy Romano, E.
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191 P.145 Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies Benarroch, L.
32 S1 p. S108
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192 P.61 Imaging Mass Cytometry reveals new clues to understand the pathogenesis of Becker muscular dystrophy Piñol, P.
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193 P.89 Immune-mediated necrotizing myopathy associated with anti-SRP Antibodies: Three cases in Korea Lee, H.
32 S1 p. S80
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194 P.32 Impact of age on muscle volume and T2-relaxation time during adulthood in mice using quantitative MRI Matot, B.
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195 P.112 Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3 Trucco, F.
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196 P.17 Importance of routine pulmonary check-up prior to ventilatory support in patients with Duchenne muscular dystrophy Choi, W.
32 S1 p. S50
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197 P.221 Improvement in respiratory and bulbar function in two patients with SMALED2B Meyer, A.
32 S1 p. S135
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198 P.142 Improving FSHD RNAi gene therapy using myotropic MyoAAVs Wallace, L.
32 S1 p. S106
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199 P.62 Increased skeletal muscle extracellular volume fraction in patients with Becker muscular dystrophy assessed by quantitative magnetic resonance imaging Marty, B.
32 S1 p. S68
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200 P.128 Integrated analyses of data from clinical trials of delandistrogene moxeparvovec in DMD Zaidman, C.
32 S1 p. S101
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201 P.28 Introduction of 12 novel pathogenic DMD variants, associated phenotypes and studies of dystrophin and MAST1 abundances Gangfuss, A.
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202 P.06 Investigating the effect of a home-based training program on oxidative capacity in patients with truncating genetic variants in titin Flensted, I.
32 S1 p. S45-S46
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203 P.143 Investigation of human bone marrow mesenchymal stem cell-derived extracellular vesicles as therapeutic agents for Facioscapulohumeral muscular dystrophy Wallace, L.
32 S1 p. S106
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204 P.158 Is there a myopathic component in Urofacial (Ochoa) syndrome? Remiche, G.
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205 P.60 Is there correlation between North Star ambulatory assessments and performance upper limb module in ambulant boys with Duchenne muscular dystrophy? Main, M.
32 S1 p. S67
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206 P.110 JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment-naïve patients with spinal muscular atrophy (SMA) Chiriboga, C.
32 S1 p. S88
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207 P.79 Late onset oculopharyngeal muscular dystrophy in a POLG1-related progressive external ophthalmoplegia (PEO), a diagnostic challenge Remiche, G.
32 S1 p. S75
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208 P.181 Limb girdle muscle dystrophy: a Brazilian cohort on ICGNMD study Tomaselli, P.
32 S1 p. S119
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209 P.57 Longitudinal changes in fat fraction histograms using quantitative MRI in Duchenne muscular dystrophy Reyngoudt, H.
32 S1 p. S66-S67
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210 P.88 Long-term follow-up of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) Baisier, L.
32 S1 p. S80
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211 P.46 Magneto-inertial wearable device: Upper limb trajectory identification in non-ambulant patients with spinal muscular atrophy Lilien, C.
32 S1 p. S61
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212 P.141 Manoeuvre study design: A study of GYM329 (RO7204239) in patients with facioscapulohumeral muscular dystrophy (FSHD) Vissing, J.
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213 P.34 MDA MOVR clinical data hub provides insights into adoption of approved therapies for neuromuscular disease Hesterlee, S.
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214 P.02 Mild nemaline myopathy 10 caused by a novel missense homozygous mutation in LMOD3: broadening the phenotype-genotype correlation Segarra-Casas, A.
32 S1 p. S45
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215 P.69 Minimum clinically important difference in magnetic resonance biomarkers in DMD Willcocks, R.
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216 P.202 Mitochondrial dysfunction in myotonic dystrophy type 1 patients Leo, V. Di
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217 P.83 Molecular pathology of human PPP1R21 deficiency Meyer, N.
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218 P.26 Motor and cognitive manifestations of young female carriers of Duchenne muscular dystrophy (DMD): a prospective natural history study Iammarino, M.
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219 P.72 Motor delays are present in most boys with dystrophinopathies in infancy Lowes, L.
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220 P.218 Moving along the ALS-bvFTD spectrum: longitudinal changes in MEG-based brain network topology of ALS patients with cognitive/behavioural impairment Govaarts, R.
32 S1 p. S135
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221 P.58 MRI muscle segmentation in Duchenne muscular dystrophy (DMD): Stepwise region of interest (ROI) contractions to minimize fat fraction variability Hammond, M.
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222 P.87 Muscle cramps may be a clue for GFPT1 gene related congenital myasthenic syndrome Köken, Ö. Yayıcı
32 S1 p. S79
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223 P.207 Muscle magnetic resonance imaging in Myotonic dystrophy type 1: Longitudinal study for 5 years Park, J.
32 S1 p. S130-S131
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224 P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients Magen, I.
32 S1 p. S62
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225 P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy Zygmunt, A.
32 S1 p. S57
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226 P.03 Myosin dysregulation in nemaline myopathy Laitila, J.
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227 P.220 Neuropsychological functioning in CMT type 2Z: A case report of language deficits masquerading as intellectual disability Miele, A.
32 S1 p. S135
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228 P.04 New developments and data highlights in the international myotubular and centronuclear myopathy patient registry McDonald, S.
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229 P.169 Nintedanib improves muscle function and reduces fibrosis in a murine model of alpha-sarcoglycanopthy Alonso-Perez, J.
32 S1 p. S116
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230 P.215 Non 5Q SMA: a Brazilian cohort study Frezatti, R.
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231 P.224 Non-5q spinal muscular atrophy in twin sisters with SPG11/CMT2X associated spatacsin gene mutation Siciliano, G.
32 S1 p. S136
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232 P.219 Novel clinical phenotype of early-onset amyotrophic lateral sclerosis and frontotemporal dementia with SNCB mutation Lee, H.
32 S1 p. S135
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233 P.156 Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features Olivé, M.
32 S1 p. S110
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234 P.107 Nusinersen effects on SMA-related fatigue: clinical and neuromuscular jitter follow-up in a late-onset patient da Graca, F. Franco
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235 P.111 Nusinersen in children and adults with spinal muscular atrophy in Argentina: Real world experienc Dubrovsky, A.
32 S1 p. S88-S89
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236 P.81 Nutritional status and bone health in pediatric patients with low skeletal muscle mass Naume, M.
32 S1 p. S75
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237 P.168 Observational study: The quality of life in patients with alpha-sarcoglycan, beta-sarcoglycan and gamma-sarcoglycan gene mutation Vola, B.
32 S1 p. S116
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238 P.103 Onasemnogene abeparvovec (OA) treatment outcomes by patient weight at infusion: Initial findings from the RESTORE registry Servais, L.
32 S1 p. S87
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239 P.129 One-year data from ENDEAVOR, a phase 1b trial of delandistrogene moxeparvovec in boys with DMD Zaidman, C.
32 S1 p. S101
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240 P.37 Outcomes in patients with spinal muscular atrophy and four or more SMN2 copies treated with onasemnogene abeparvovec: Findings from RESTORE Finkel, R.
32 S1 p. S58-S59
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241 P.16 Parental illness intrusiveness, parental well-being and youth well-being in families confronted with Duchenne muscular dystrophy Prikken, S.
32 S1 p. S50
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242 P.25 Patient-reported aspects of Becker muscular dystrophy from the Duchenne registry, a registry for Duchenne and Becker muscular dystrophy (BMD) Donovan, J.
32 S1 p. S52-S53
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243 P.08 Phase 1 open-label trial of Rycal S48168 (ARM210) for RYR1-related myopathies Todd, J.
32 S1 p. S46
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244 P.193 Phosphoryl guanidine-containing backbone modifications enhance exon skipping, dystrophin restoration and survival in a severe mouse model for DMD Hu, X.
32 S1 p. S126
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245 P.153 Pilot trial of sialyllactose in patients with GNE myopathy Park, Y.
32 S1 p. S109-S110
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246 P.66 Predicting trajectories of ambulatory function in Duchenne muscular dystrophy (DMD) Muntoni, F.
32 S1 p. S69
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247 P.173 Preliminary natural history quantitative MRI data in lower limb muscle and heart of patients with limb-girdle muscular dystrophy type R9 Reyngoudt, H.
32 S1 p. S117
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248 P.209 Prevalence of healthcare conditions and services used by patients with myotonic dystrophy (DM) pre- and post-diagnosis: A real-world data analysis Day, J.
32 S1 p. S131
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249 P.23 Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE Registry and CINRG Natural History Study: a matched cohort analysis Tulinius, M.
32 S1 p. S52
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250 P.163 Quantitative MRI in upper limb muscle of patients with dysferlinopathy: preliminary baseline results of the natural history study Jain COS2 Reyngoudt, H.
32 S1 p. S114-S115
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251 P.195 Quantitative skeletal muscle MRI of golden retriever muscular dystrophy dogs Marty, B.
32 S1 p. S126
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252 P.70 Rasch analysis of the PROMIS parent proxy item banks administered to caregivers of patients with Duchenne muscular dystrophy Lowes, L.
32 S1 p. S70
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253 P.100 Rationale/design of the phase 3b ASCEND study of investigational higher dose nusinersen in participants with SMA previously treated with risdiplam Darras, B.
32 S1 p. S86
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254 P.137 Reachable workspace to evaluate efficacy of losmapimod in subjects with FSHD in two phase 2 studies Tawil, R.
32 S1 p. S104
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255 P.51 Real-world experience after one year treating SMA children with risdiplam de la Banda, M. Gomez Garcia
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256 P.134 Real-world outcomes of exon skipping therapy use in patients with Duchenne muscular dystrophy: Experience at a single, large tertiary care center Yaworski, A.
32 S1 p. S102
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257 P.196 Rebuilding muscle in Duchenne by correcting stem cell polarity Mitchell, R.
32 S1 p. S126-S127
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258 P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy Donkervoort, S.
32 S1 p. S110
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259 P.80 Respiratory chain dysfunction in dermatomyositis is associated with mitochondrial DNA depletion Hedberg-Oldfors, C.
32 S1 p. S75
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260 P.130 RGX-202: An investigational AAV8 gene therapy coding for a novel microdystrophin as a treatment for Duchenne muscular dystrophy Dastgir, J.
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261 P.191 RKER-065, a novel muscle and bone anabolic, increased muscle, grip strength and trabecular bone in a mouse model of Duchenne muscular dystrophy Nathan, R.
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262 P.150 RNA Sequencing confirms the pathogenicity of a novel FHL1 deletion Kushlaf, H.
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263 Program summary
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264 P.105 Safety and effectiveness of onasemnogene abeparvovec (OA) alone or with other disease-modifying therapies (DMTs): Findings from RESTORE Servais, L.
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265 P.135 Safety and tolerability of losmapimod for the treatment of FSHD Shoskes, J.
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266 P.170 Safety, β-sarcoglycan expression, and functional outcomes from systemic gene transfer of bidridistrogene xeboparvovec in limb-girdle muscular dystrophy type 2E/R4 Rodino-Klapac, L.
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267 P.113 Safety update: Risdiplam clinical trial development program Chiriboga, C.
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268 P.187 SelN expression in activated satellite cells following muscle injury Wright, M.
32 S1 p. S122
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269 P.78 Skeletal myopathy or cardiomyopathy in glycogenin-1 deficiency - Two sides of the coin Visuttijai, K.
32 S1 p. S74
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270 P.86 Spanish Pompe Registry: Update of the 122 patients included Marín, R. Martínez
32 S1 p. S76-S77
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271 P.27 Spinal aspects in DMD patients on intermittent corticosteroid dosing - a single center study Ikelaar, N.
32 S1 p. S53
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272 P.73 Structural damage in dystrophinopathies: a multimodal neuroimaging study de Brito, M. Rabelo
32 S1 p. S70-S71
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273 P.99 Suboccipital puncture for administration of Nusinersen. Description of 2 cases Alonso-Jiménez, A.
32 S1 p. S86
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274 P.114 SUNFISH parts 1 and 2: 3-year efficacy and safety of risdiplam in types 2 and 3 spinal muscular atrophy (SMA) Day, J.
32 S1 p. S89-S90
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275 P.15 Symptomatic DMD carrier as a differential diagnosis in patients presenting asymmetrical limb weakness Cho, M.
32 S1 p. S50
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276 P.118 The effect of nusinersen on function and muscle strength in the upper limb in a cohort of children with spinal muscular atrophy (SMA) type 2 and 3 Milev, E.
32 S1 p. S90-S91
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277 P.48 The impact of newborn screening and early therapy on the course of spinal muscular atrophy: a retrospective analysis of a single center experience Karachunski, P.
32 S1 p. S61
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278 P.40 The importance of bulbar/respiratory symptoms in spinal muscular atrophy: results from interviews with patients, caregivers and healthcare providers Gassner, O.
32 S1 p. S59
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279 P.161 The molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy: experience of tertiary center from Turkey Köken, Ö. Yayıcı
32 S1 p. S114
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280 P.208 The neurocognitive phenotype of childhood Myotonic dystrophy type 1: A multicenter pooled analysis Sweere, D.
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281 P.152 The novel ANXA11 variant p.Asp40Ile in a childhood-onset oculopharyngeal muscular dystrophy shows the pathogenic relevance of Asp40 in ANXA11 disorders Natera-de Benito, D.
32 S1 p. S109
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282 P.104 Treatments and outcomes for patients with spinal muscular atrophy (SMA) type 2: Findings from RESTORE registry Servais, L.
32 S1 p. S87
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283 P.212 TREAT-NMD Myotonic dystrophy (DM) Global Registry Network: An update in 2022 Bennett, N.
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284 P.213 TREAT-NMD myotonic dystrophy global registry network: An international collaboration in myotonic dystrophy type 2 Peric, S.
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285 P.211 TREAT-NMD myotonic dystrophy Global Registry Network: Providing data in congenital myotonic dystrophy to support FDA regulatory decision making Bennett, N.
32 S1 p. S131-S132
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286 P.174 TRIM32 related muscular dystrophy mimicking inflammatory myopathy: Clinical and histopathological features in two siblings Orbach, R.
32 S1 p. S117
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287 P.216 Two interesting and unique cases of acquired neuropathies in pediatrics Arbour, G.
32 S1 p. S134
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288 P.92 UMINESCE: Phase 3 study of satralizumab, a therapeutic recycling antibody targeting the IL-6 receptor, in patients with generalised myasthenia gravis Kaminski, H.
32 S1 p. S80-S81
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289 P.140 Understanding the patients' journey pre- and post-diagnosis of facioscapulohumeral muscular dystrophy (FSHD): A real-world retrospective data analysis Konersman, C.
32 S1 p. S105
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290 P.90 Understanding the role of GFPT1 in congenital myasthenic syndromes Holland, S.
32 S1 p. S80
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291 P.120 Unlocking the potential of oligonucleotide therapeutics for Duchenne muscular dystrophy through enhanced delivery Mellion, M.
32 S1 p. S99
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292 P.19 Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry Muntoni, F.
32 S1 p. S51
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293 P.56 Urine titin as a novel biomarker for Duchenne muscular dystrophy Ishii, M.
32 S1 p. S66
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294 P.74 Using high-field magnetic resonance spectroscopy to measure muscle glycogen in patients with McArdle disease Stemmerik, M.
32 S1 p. S73-S74
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295 P.189 Using in situ hybridization to delineate collagen VI genes' expression patterns in skeletal muscles of wild-type and COL6-related dystrophies mice Guirguis, F.
32 S1 p. S122
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296 P.205 Utility of electrical bioimpedance as a biomarker in myotonic dystrophy type I Garcia, S. Kapetanovic
32 S1 p. S130
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297 P.214 Utility of ENMG in children with rare genetic neurogenic disorders: a case series Dufort, G.
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298 P.68 Validation of a composite prognostic score for time to loss of ambulation in Duchenne muscular dystrophy McDonald, C.
32 S1 p. S69
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299 P.64 Validity of remote evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy Lowes, L.
32 S1 p. S68
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300 P.71 Vamorolone has less impact than daily prednisone or deflazacort on height and body mass index in patients with Duchenne muscular dystrophy (DMD) Ward, L.
32 S1 p. S70
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301 P.222 Wearable inertial sensors for longitudinal follow-up of patients with amyotrophic lateral sclerosis. Poleur, M.
32 S1 p. S136
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302 P.13 What is the future for female patients with childhood onset symptomatic Duchenne muscular dystrophy? Opstal, S. Houwen van
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303 Scientific title page
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304 TEMPORARY REMOVAL: VP.47 Interleukin 31 (IL-31) inhibition as a trigger for an immune-mediated myopathy? Winkler, M.
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305 VP.68 ACTN2: Mutation Update Ranta-aho, J.
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306 VP.38 A double-blinded, randomized, placebo-controlled phase II study of FcRn antagonist batoclimab in Chinese generalized myasthenia gravis patients Yan, C.
32 S1 p. S82
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307 VP.54 Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized placebo-controlled, crossover, phase 2 trial Bonanno, S.
32 S1 p. S92
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308 VP.61 An AAV-shRNA DUX4-based therapy to treat facioscapulohumeral muscular dystrophy (FSHD) Mariot, V.
32 S1 p. S107
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309 VP.06 A new case of congenital myopathy related to TNNC2 Lace, B.
32 S1 p. S48
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310 VP.39 A new era for gMG management: Impact of continuing education on improving diagnosis and classification of gMG patients Drexel, C.
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311 VP.67 A novel adult-onset vacuolar myopathy caused by a large expansion of the PLIN4 gene- clinical, histological and imaging data Maggi, L.
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312 VP.93 A novel variant of DYNC1H1 mutations in spinal muscular atrophy lower extremity predominant in an Indonesian patient: a case report Iskandar, K.
32 S1 p. S136
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313 VP.91 A preliminary assessment of the psychometric properties of the congenital myotonic dystrophy type 1 rating scale (CDM1-RS) in a phase 2/3 study Nikolenko, N.
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314 VP.56a Real-world assessment of onasemnogene abeparvovec treatment in patients with spinal muscular atrophy: RESTORE/post-marketing surveillance in Japan Saito, K.
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315 VP.01 Array comparative genomic hybridisation and droplet digital PCR uncover recurrent copy number variation of the titin segmental duplication region Sagath, L.
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316 VP.59 A single-arm, open-label, multicenter study of tranilast for advanced heart failure in patients with muscular dystrophy Matsumura, T.
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317 VP.16 Assessment of muscular, respiratory and cardiological function and the number of copies of the SMN2 gene in patients with spinal muscular atrophy (SMA) Cedillo, R. Escobar
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318 VP.92 Autonomic symptoms are frequent in myotonic dystrophy type 1 Alonso, S.
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319 VP.21 Baseline nutrition investigation in a Chinese cohort of pediatric patients with spinal muscular atrophy Li, S.
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320 VP.20 Cathepsin D as biomarker in CSF of nusinersen-treated patients with spinal muscular atrophy Schorling, D.
32 S1 p. S64
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321 VP.79 Challenges in genetic diagnosis of LAMA2-MD - when the pieces do not fit Goncalves, A.
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322 VP.88 Characterisation of cell culture models of myotonic dystrophy type I by In-Cell Western technology and digital droplet PCR López-Martínez, A.
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323 VP.73 Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy Ishiguro, K.
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324 VP.15 Clinical and genetic study of a spinal muscular atrophy family with variable phenotypes Liu, S.
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325 VP.78 Clinical and genetic study of LAMA2-related muscular dystrophy patients with seizures Huang, X.
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326 VP.09 Clinical characteristics and gene analysis of 10 rare cases with coexistence of double genetic diseases Tan, D.
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327 VP.42 Clinical characteristics, molecular genetics and long-term clinical outcomes in 43 patients with congenital myasthenia syndrome due to RAPSYN mutation Ramdas, S.
32 S1 p. S83
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328 VP.45 Clinical features of anti-mitochondrial M2 antibody-positive myositis: Case series of 17 patients Nagai, A.
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329 VP.48 Clinicopathological characteristics of 105 patients with idiopathic inflammatory myopathy based on muscle specific antibodies Yamanaka, A.
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330 VP.02 Comprehensive characterization of early-onset skeletal muscle disease gene exon usage and splicing patterns across different developmental ages Su, Z.
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331 VP.41 Congenital myasthenic syndrome: natural history of an Italian cohort of patients Gallone, A.
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332 VP.12 Covid-19 infections in an adult cohort of Duchenne muscular dystrophy attending the National Hospital for neurology and neurosurgery in London Desikan, M.
32 S1 p. S55
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333 VP.85 C-Path's Duchenne Regulatory Science Consortium: Accelerating drug development for Duchenne muscular dystrophy Belfiore-Oshan, R.
32 S1 p. S128
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334 VP.66 CRISPR/Cas9-targeted single molecule long-read sequencing reveals allelic microheterogeneity of triplet repeat expansion in oculopharyngodistal myopathy Eura, N.
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335 VP.46 Dermatomyositis-specific autoantibodies and muscle MRI findings Une, H.
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336 VP.03 Diagnosing Titinopathy: lessons from a multi-omics pilot study Zhang, Y.
32 S1 p. S47-S48
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337 VP.72 Diversity of splice-acting variants in the COL6A1, COL6A2 and COL6A3 genes associated with collagen VI-related dystrophies Bolduc, V.
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338 VP.62 DUX4 expression turn on the myogenic program in MSC Serbina, O.
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339 VP.22 Dystrophin transcript profile in urinary stem cells allows to study the impact of missense mutations Mietto, M.
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340 VP.86 Effect of a chronic treatment with L-citrulline on funtional, histological and molecular readouts of dystrophic mdx mouse model Tulimiero, L.
32 S1 p. S128
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341 VP.60 Every breath counts! Inspiratory muscle training in children with neuromuscular diseases: a cross-over randomised controlled trial Human, A.
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342 VP.40 Exploring barriers and facilitators to physical exercise in autoimmune myasthenia gravis : The MYaEX study Birnbaum, S.
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343 VP.55 Fatigue, pain, breathing, voice, fatigability, sleep, rest and vulnerability as meaningful outcomes in SMA care: the patients´ and caregivers' voice Povedano, M.
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344 VP.58 Golodirsen induced DMD transcripts localization and dystrophin production in MyoD-converted fibroblasts from 4053-101 clinical trial patients Rossi, R.
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345 VP.84 Growth hormone secretagogues in Duchenne muscular dystrophy: a preclinical evaluation of potential benefits on muscle function and morphology Mantuano, P.
32 S1 p. S128
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346 VP.14 Growth patterns in treated SMA children in the UK Raquq, S.
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347 VP.36 Hypothyroidism impairs skeletal muscle regeneration through dysregulation of MuSCs cell cycle Aguiari, P.
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348 VP.52 Identification of a novel cytokine profile in serum and CSF of pediatric and adult SMA patients and its modulation upon nusinersen treatment Bonanno, S.
32 S1 p. S91
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349 VP.53 Image-guided nusinersen intrathecal injections in SMA patients: a single centre experience Weststrate, H.
32 S1 p. S91-S92
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350 VP.43 Immune-mediated necrotizing myopathies: clinical-serological features of a large Italian cohort of patients Bonanno, S.
32 S1 p. S83
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351 VP.51 Impact of nusinersen on caregiver experience and health-related quality of life (HRQoL) when initiated in the presymptomatic stage of SMA in NURTURE Kirschner, J.
32 S1 p. S91
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352 VP.05 Innervation defect: new pathomechanism of centronuclear myopathy? Saito, Y.
32 S1 p. S48
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353 VP.08 Interests and experiences of young adults with muscular dystrophy in receiving genetic information Hammond, L.
32 S1 p. S54
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354 VP.81 In vivo modulation of novel genetic modifiers for LAMA2-RD Pini, V.
32 S1 p. S124-S125
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355 VP.83 Ion channels and myogenesis in Duchenne muscular dystrophy: Electrophysiological profile of wild-type and dystrophic myoblasts and myocytes Cerchiara, A.
32 S1 p. S128
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356 VP.90 Is an early diagnosis of congenital and childhood forms of myotonic dystrophy type 1 possible? Clinical and electromyographic description of case series Kurbatov, S.
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357 VP.75 Jab1 deletion in muscle lineage causes a muscular dystrophy that resembles LAMA2 disease Porrello, E.
32 S1 p. S123
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358 VP.44 Juvenile Anti-PM Scl75 myositis with necrosis, phagocytosis, and endomysial fibrosis Cotta, A.
32 S1 p. S83-S84
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359 VP.07 Lived experience of functioning of patients with nemaline myopathy and related disorders in Finland Lehtokari, V.
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360 VP.32 Living with Pompe disease in the UK: characterising the patient journey; burden on physical and emotional quality of life; and impact of COVID-19 Muir, A.
32 S1 p. S77
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361 VP.17 Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 - a 3-year SMArtCARE registry study Pechmann, A.
32 S1 p. S63-S64
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362 VP.50 Management of spinal muscular atrophy in the preterm infant: A case study Nigro, E.
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363 VP.35 Muscle involvement in a Chinese patient with TRNT1-related disorder Wei, C.
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364 VP.25 Muscle MRI in female carriers of Duchenne muscular dystrophy Sun, Y.
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365 VP.77 Muscle transcriptomic study of a novel LAMA2-related congenital muscular dystrophy mouse model Tan, D.
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366 VP.76 Natural history of a novel mouse model for LAMA2-related congenital muscular dystrophy Tan, D.
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367 VP.69 Natural history of tibial muscular dystrophy Kuusinen, V.
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368 VP.30 Neurofilament light as a biomarker for involvement of the brain in classic infantile Pompe patients Mackenbach, M.
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369 VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France Yaou, R. Ben
32 S1 p. S112
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370 VP.56 Perception of treatment efficacy among pediatric neurologists caring for patients with spinal muscular atrophy Saposnik, G.
32 S1 p. S92
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371 VP.82 PK/PD modelling to inform clinical development of an adeno-associated virus gene transfer therapy for Duchenne muscular dystrophy East, L.
32 S1 p. S127
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372 VP.27 Potential of the Keeogo+, a lightweight wearable powered assistive exoskeleton in patients with neuromuscular disorders: preliminary findings Feigean, R.
32 S1 p. S72
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373 VP.26 Potential of the MyoSuit, a lightweight wearable lower-limb cable-actuated exoskeleton in patients with neuromuscular disorders: preliminary findings Feigean, R.
32 S1 p. S71-S72
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374 VP.28 Psychometric properties of muscle strength assessment by hand-held dynamometry in healthy adults: A reliability study Morin, M.
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375 VP.33 Quantification of the burden, unmet needs, management, and COVID 19 impact of living with Pompe disease in the UK: results of an online patient survey Buxton, V.
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376 VP.19 Rehab Robo: A high sensitivity patient outcome tracking and physical exercise tool for spinal muscular atrophy Kent, O.
32 S1 p. S64
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377 VP.04 Ryanodine receptor - related disorders Marttila, M.
32 S1 p. S48
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378 VP.29 Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease; a prospective study Ditters, I.
32 S1 p. S77
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379 VP.65 Screening of small molecules for activation of GNE protein carrying non-catalytic site mutation based on molecular docking simulation Yoshioka, W.
32 S1 p. S111
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380 VP.11 Shoulder subluxations and dislocations in non-ambulatory patients with Duchenne muscular dystrophy (DMD) Goncalves, C.
32 S1 p. S54
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381 VP.71 Simultaneous texture and relaxation estimation in skeletal muscle in cystinosis patient compared to healthy control with high-field MRI Sveinsson, B.
32 S1 p. S119-S120
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382 VP.89 Skeletal muscle after a single bout of eccentric exercise in myotonic dystrophy type 1: a complete proteomic analysis Roussel, M.
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383 VP.37 Sleep deprivation induces aging like changes in antigravity muscles of young adult male wistar rats Sharma, B.
32 S1 p. S78-S79
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384 VP.18 Social communication skills in spinal muscular atrophy (SMA) type 1 children treated with approved disease-modifying therapies Brusa, C.
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385 VP.23 Survey about the prevalence of urinary symptoms and abnormal renal function in adults with Duchenne muscular dystrophy (DMD) Pietrusz, A.
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386 VP.24 T Cell-mediated immune response to dystrophin in Duchenne muscular dystrophy - A natural history study Anthony, K.
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387 VP.10 The occurrence of bowel symptoms in adults with Duchenne muscular dystrophy Pietrusz, A.
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388 VP.49 Total sleep deprivation leads to changes in neuromuscular junction of soleus muscle in male wistar rats Sharma, B.
32 S1 p. S85
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389 VP.34 Two-year follow-up of muscle strength and function in patients with glycogen storage disease type IIIa Decostre, V.
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390 VP.74 Uniparental disomy unmasks a homozygous mutation of POMGNT1 in a case of muscle-eye-brain disease Liu, Y.
32 S1 p. S123
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391 VP.13 Updates on the development of the spinal muscular atrophy - person-reported outcome (SMA-PRO): A caregiver and self-proxy performance measure for child Pasternak, A.
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392 VP.31 10-year course of treatment with enzyme replacement therapy for childhood-onset Pompe disease Ishii, A.
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393 Welcome to the World Muscle Society in Halifax, Nova Scotia
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394 WMS 2023 Charleston flyer
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                             394 gevonden resultaten
 
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