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nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 ADVANCES IN THE TREATMENT OF NEUROMUSCULAR DISORDERS Díaz-Manera, J.
 2019
 29 S1 p. S121
 artikel
2 Author index 2019
 29 S1 p. S209-S231
 artikel
3 CLINICAL STUDIES AND QUALITY OF LIFE Paternoster, L.
 2019
 29 S1 p. S127
 artikel
4 CLINICAL TRIAL HIGHLIGHTS Rodino-Klapac, L.
 2019
 29 S1 p. S207
 artikel
5 CMT AND NEUROPATHY Longatto, J.
 2019
 29 S1 p. S67
 artikel
6 CONGENITAL MUSCULAR DYSTROPHY: LAMA2 Foley, A.
 2019
 29 S1 p. S163
 artikel
7 CONGENITAL MYOPATHIES: CENTRONUCLEAR AND OTHERS Silva-Rojas, R.
 2019
 29 S1 p. S78
 artikel
8 CONGENITAL MYOPATHIES: NEMALINE MYOPATHIES Tinklenberg, J.
 2019
 29 S1 p. S93
 artikel
9 CONGENITAL MYOPATHIES: RYR1 AND TITIN Evangelista, T.
 2019
 29 S1 p. S133
 artikel
10 DIAGNOSTIC AND EXPERIMENTAL TREATMENT APPROACHES Johari, M.
 2019
 29 S1 p. S124
 artikel
11 DISORDERS OF THE EXTRACELLULAR MATRIX Stojkovic, T.
 2019
 29 S1 p. S192-S193
 artikel
12 DISTAL MYOPATHIES Saade, D.
 2019
 29 S1 p. S138
 artikel
13 DMD ANIMAL MODELS Al-Mshhdani, B.
 2019
 29 S1 p. S157
 artikel
14 DMD BRAIN Jackson, J.
 2019
 29 S1 p. S148
 artikel
15 DMD CLINICAL Mah, M.
 2019
 29 S1 p. S142
 artikel
16 DMD CLINICAL AND BIOMARKERS Dorchies, O.
 2019
 29 S1 p. S88-S89
 artikel
17 DMD TREATMENT Forand, A.
 2019
 29 S1 p. S164-S165
 artikel
18 Editorial Board 2019
 29 S1 p. CO2
 artikel
19 EP.04A case of late onset multiple acyl-CoA dehydrogenase deficiency with novel ETFDH mutation Shin, J.
 2019
 29 S1 p. S71
 artikel
20 EP.66A case with dystrophinopathies mimicking metabolic myopathies Lee, J.
 2019
 29 S1 p. S171-S172
 artikel
21 EP.114A CMT family with AD and AR inheritance of a MME variant Ravenscroft, G.
 2019
 29 S1 p. S201
 artikel
22 EP.55A critical review of tools assessing health related quality of life, activity of daily living and caregiver burden in SMA Messina, S.
 2019
 29 S1 p. S117
 artikel
23 EP.06Adult-onset recurrent rhabdomyolysis due to variants in LPIN1 Minton, T.
 2019
 29 S1 p. S72
 artikel
24 EP.58A late onset case of Becker muscular dystrophy Bisciglia, M.
 2019
 29 S1 p. S169
 artikel
25 EP.25A limb girdle muscular dystrophy phenotype with mutations in ISPD and TTN Aksoy, A.
 2019
 29 S1 p. S77
 artikel
26 EP.59A manifesting carrier of Duchenne muscular dystrophy with a balanced X- autosome translocation with a breakpoint in the dystrophin gene Lee, T.
 2019
 29 S1 p. S169-S170
 artikel
27 EP.70Annual prevalence of pneumothorax in neuromuscular disorders: results of questionnaire survey of institutions registered in muscular dystrophy clinical trial network in Japan Kobayashi, M.
 2019
 29 S1 p. S173
 artikel
28 EP.20ANO5-related myopathy: report of the first Greek patients Svingou, M.
 2019
 29 S1 p. S75-S76
 artikel
29 EP.23A novel LMNA mutation identified in an Argentinian patient with autosomal dominant Emery-Dreifuss muscular dystrophy phenotype Azcona, C.
 2019
 29 S1 p. S76-S77
 artikel
30 EP.119A novel mutation in VAPB causing spinal muscular atrophy, Finkel type in Finland Jokela, M.
 2019
 29 S1 p. S202
 artikel
31 EP.22Anti-HMGCR antibody in asymptomatic patients with high CK - Case report Soares, I.
 2019
 29 S1 p. S76
 artikel
32 EP.19Anti-HMGCR positive necrotizing myopathy presenting in childhood Rasmussen, M.
 2019
 29 S1 p. S75
 artikel
33 EP.129A probable new pathogenic variant in RYR1 gene? - 3 case reports Koch, M.
 2019
 29 S1 p. S205
 artikel
34 EP.10A progressive infantile myopathy case with TK2-related mitochondrial DNA depletion syndrome: correlation with muscle pathology Shin, J.
 2019
 29 S1 p. S73
 artikel
35 EP.82A prospective study of eteplirsen treatment for Duchenne muscular dystrophy in routine clinical practice: study design and methodology Tsai, K.
 2019
 29 S1 p. S176
 artikel
36 EP.62A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman Luce, L.
 2019
 29 S1 p. S170-S171
 artikel
37 EP.50A service evaluation of orthotic provision for neuromuscular patients at the John Walton neuromuscular research centre Moat, D.
 2019
 29 S1 p. S115
 artikel
38 EP.54Assessment of trunk muscle strength in patients with muscular dystrophies using stationary and hand-held dynamometry: a test-retest reliability study Rudolf, K.
 2019
 29 S1 p. S116-S117
 artikel
39 EP.21Bcl-2-associated athanogene-3 (BAG3) myopathy in an ethnic-Indian Malaysian patient Goh, K.
 2019
 29 S1 p. S76
 artikel
40 EP.71Behavioral problems in Duchenne muscular dystrophy: how do we manage them in clinical practice? Geuens, S.
 2019
 29 S1 p. S173
 artikel
41 EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations Brisset, M.
 2019
 29 S1 p. S206
 artikel
42 EP.78Care for Duchenne – a structured approach to optimize and uniform care for Duchenne muscular dystrophy in the Netherlands Krom, Y.
 2019
 29 S1 p. S175
 artikel
43 EP.121Carey-Fineman-Ziter syndrome: a MYMK-related myopathy mimicking brainstem dysgenesis Camacho, A.
 2019
 29 S1 p. S203
 artikel
44 EP.68Carnitine deficiency in patients with Duchenne muscular dystrophy requiring long-term tube feeding and heart function improvement by carnitine replacement Ueno, K.
 2019
 29 S1 p. S172
 artikel
45 EP.132Central core myopathy in Chinese patients with Nav1.4 p.R675Q mutation Sun, J.
 2019
 29 S1 p. S206
 artikel
46 EP.31Characteristic findings of skeletal muscle MRI in caveolinopathies Ishiguro, K.
 2019
 29 S1 p. S110
 artikel
47 EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs Puusepp, S.
 2019
 29 S1 p. S202
 artikel
48 EP.110Clinical and neurophysiological outcome of a patient with predicted type 1 SMA presymptomatically treated with nusinersen Alvarez Molinero, M.
 2019
 29 S1 p. S200
 artikel
49 EP.64Clinical characteristics of children with Duchenne and Becker muscle dystrophy in Israel Goldfarb, I.
 2019
 29 S1 p. S171
 artikel
50 EP.101Clinical, histopathological and molecular characterization of a cohort of Spanish patients with congenital myopathy Natera de Benito, D.
 2019
 29 S1 p. S182
 artikel
51 EP.63Clinical, pathological, and molecular findings in Argentine patients with nonsense mutations in the DMD gene Foncuberta, M.
 2019
 29 S1 p. S171
 artikel
52 EP.89Clinical trials in young boys and infants with DMD: how do you handle maturation? Miller, N.
 2019
 29 S1 p. S178
 artikel
53 EP.126Congenital fiber type disproportion related to novel autosomal dominant mutation in TNNT1 Fattori, F.
 2019
 29 S1 p. S204
 artikel
54 EP.112Congenital sensory neuropathy as a new associated finding in COG6 and PIGG neurological disorders CostaComellas, L.
 2019
 29 S1 p. S200
 artikel
55 EP.92Contribution of the lower limbs in maintaining sitting balance in individuals with DMD: a pilot study Peeters, L.
 2019
 29 S1 p. S179
 artikel
56 EP.02Deep sequencing of mitochondrial DNA and functional characterization of a novel POLG mutation in a patient with autosomal recessive progressive external ophthalmoplegia Hedberg-Oldfors, C.
 2019
 29 S1 p. S70-S71
 artikel
57 EP.75Deflazacort or prednisone treatment for Duchenne muscular dystrophy (DMD): real-world outcomes at Cincinnati Children's Hospital Medical Center (CCHMC) Marden, J.
 2019
 29 S1 p. S174
 artikel
58 EP.83Design of a Phase 2/3 randomized controlled trial of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy amenable to exon 51 skipping Wagner, K.
 2019
 29 S1 p. S176-S177
 artikel
59 EP.76Developmental delay in Duchenne muscular dystrophy van Dommelen, P.
 2019
 29 S1 p. S174
 artikel
60 EP.88Development of clinical trial simulation tool for Duchenne muscular dystrophy through the Duchenne Regulatory Science Consortium Larkindale, J.
 2019
 29 S1 p. S178
 artikel
61 EP.69Disorders of coagulation in Duchenne muscular dystrophy? Results of a registry-based online survey Schorling, D.
 2019
 29 S1 p. S172
 artikel
62 EP.61DMD gene molecular genetic characterization in Eastern Europe and non European countries Selvatici, R.
 2019
 29 S1 p. S170
 artikel
63 EP.115DNAH10: a new candidate gene for ALS Silva, L.
 2019
 29 S1 p. S201
 artikel
64 EP.57Duchenne muscular dystrophy and stroke: systematic review of literature and two cases reports Bolonhezi, B.
 2019
 29 S1 p. S169
 artikel
65 EP.93Electrical impedance myography goes global: collaborative efforts to advance a promising preclinical and clinical tool for the development of future DMD therapies van Putten, M.
 2019
 29 S1 p. S179-S180
 artikel
66 EP.109Establishing a new psychology service for people living with amyotrophic lateral sclerosis Merrison, A.
 2019
 29 S1 p. S199-S200
 artikel
67 EP.53Evaluation of the reliability and validity of the facioscapulohumeral composite outcome measure (FSH-COM) in children with facioscapulohumeral muscular dystrophy (FSHD): study protocol de Valle, K.
 2019
 29 S1 p. S116
 artikel
68 EP.108Expanding phenotype of EGR2 gene related Charcot-Marie-Tooth disease type 1D Silwal, A.
 2019
 29 S1 p. S199
 artikel
69 EP.85Exploring the trainability of working memory and learning in Duchenne muscular dystrophy using computerized memory training Hellebrekers, D.
 2019
 29 S1 p. S177
 artikel
70 EP.16Factors associated with postoperative surgical complications in myotonic dystrophy type 1 Park, J.
 2019
 29 S1 p. S74-S75
 artikel
71 EP.103Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre Bugiardini, E.
 2019
 29 S1 p. S182
 artikel
72 EP.102Genetic diagnosis in large Japanese cohort using targeted re-sequencing system Okubo, M.
 2019
 29 S1 p. S182
 artikel
73 EP.99Genetic diagnosis of congenital neuromuscular disorder patients using next-generation sequencing Jang, S.
 2019
 29 S1 p. S181
 artikel
74 EP.116Genetic neuropathies presenting with CIDP-like features in childhood – 3 novel cases and review of the literature Fernández-García, M.
 2019
 29 S1 p. S201-S202
 artikel
75 EP.42Health Utility index scores in patients with spinal muscular atrophy: findings from the 2019 cure SMA community update survey Belter, L.
 2019
 29 S1 p. S113
 artikel
76 EP.08Highly asymmetrical distribution of muscle wasting correlated with heteroplasmy level in a patient suffering from a mitochondrial myopathy with single deletion of mitochondrial DNA Masingue, M.
 2019
 29 S1 p. S72
 artikel
77 EP.09Hypersomnia-featured very long-chain acyl-coenzyme a dehydrogenase deficiency caused by a homozygous R428H mutation of ACADVL DA, Y.
 2019
 29 S1 p. S72-S73
 artikel
78 EP.106Hypertrophic neuropathy of the sciatic nerve Yis, U.
 2019
 29 S1 p. S199
 artikel
79 EP.111Identification of novel biallelic mutations in SPTBN4 in a child with NEDHND featuring a spinal muscular atrophy phenotype Castiglioni, C.
 2019
 29 S1 p. S200
 artikel
80 EP.28Immune checkpoint inhibitors (ICIs)-related ocular myositis Garibaldi, M.
 2019
 29 S1 p. S78
 artikel
81 EP.100Impact of NGS on HyperCKemia diagnosis Marti, P.
 2019
 29 S1 p. S181-S182
 artikel
82 EP.11Impaired fat oxidation during exercise in long-chain acyl-CoA dehydrogenase deficiency patients and effect of IV-glucose Madsen, K.
 2019
 29 S1 p. S73
 artikel
83 EP.07Impaired lipolysis in propionic acidemia - a case story Storgaard, J.
 2019
 29 S1 p. S72
 artikel
84 EP.44Improving healthcare professionals' capacity for facilitating self-determination among children with neuromuscular conditions: assessing the need McAdam, L.
 2019
 29 S1 p. S113-S114
 artikel
85 EP.113Infantile-onset CMT2Z is caused by two MORC2 gene mutations and is associated with a distinct phenotype Stettner, G.
 2019
 29 S1 p. S200-S201
 artikel
86 EP.48Informing paediatric clinical research participants: an innovative approach Crow, B.
 2019
 29 S1 p. S115
 artikel
87 EP.13Long-lasting corticosteroids-induced improvement in inclusion body myositis with prominent mitochondrial changes Damien, C.
 2019
 29 S1 p. S73-S74
 artikel
88 EP.128Measuring motor function response to treatment in DOK7 congenital myasthenic syndrome Kennedy, R.
 2019
 29 S1 p. S205
 artikel
89 EP.03Mevalonate kinase deficiency - a mimic of mitochondrial myopathy in clinic and muscle biopsy von Landenberg, C.
 2019
 29 S1 p. S71
 artikel
90 EP.12Mitochondrial myopathy and progressive external ophthalmoplegia associated with novel mutations m.5669G>A and m.5701delA in MT-TN Visuttijai, K.
 2019
 29 S1 p. S73
 artikel
91 EP.38Muscle MRI in myotonic dystrophy type 1 Garibaldi, M.
 2019
 29 S1 p. S112
 artikel
92 EP.46MuscleViz: free open-source software for muscle weakness visualization Wittenbach, J.
 2019
 29 S1 p. S114
 artikel
93 EP.18Mutations in TRAPPC11 are associated with Rett-like syndrome in absence of significant muscle involvement Vila-Bedmar, S.
 2019
 29 S1 p. S75
 artikel
94 EP.87MYODA clinical program: composite score for assessing the efficacy of BIO101 (MAS activator) in ambulatory and non-ambulatory Duchenne boys Chabane, M.
 2019
 29 S1 p. S178
 artikel
95 EP.124Myopathies presenting with head drop: clinical spectrum and treatment outcomes Alhammad, R.
 2019
 29 S1 p. S204
 artikel
96 EP.45Neuromuscular disease services crossing boundaries: a multi-disciplinary network approach in the United Kingdom Merrison, A.
 2019
 29 S1 p. S114
 artikel
97 EP.05New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure Gonzalez Mera, L.
 2019
 29 S1 p. S71-S72
 artikel
98 EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience Van Ghelue, M.
 2019
 29 S1 p. S181
 artikel
99 EP.65Normal respiratory function in a young adult with Duchenne muscular dystrophy – the possible role of supplements Trucco, F.
 2019
 29 S1 p. S171
 artikel
100 EP.131Novel ACTA1 mutation causes late-onset nemaline myopathy with fuzzy-dark cores Garibaldi, M.
 2019
 29 S1 p. S205-S206
 artikel
101 EP.72Ophthalmological manifestations as side effects of long term corticosteroid treatment in patients with Duchenne and Becker muscular dystrophies: insights from a questionnaire survey focused on patients' experience Brignol, T.
 2019
 29 S1 p. S173
 artikel
102 E-POSTERS – CLINICAL TRIAL READINESS Frimpong-Ansah, C.
 2019
 29 S1 p. S112
 artikel
103 E-POSTERS – DMD – CASE REPORTS Straathof, C.
 2019
 29 S1 p. S169
 artikel
104 E-POSTERS – DMD – CLINICAL CARE Eglon, G.
 2019
 29 S1 p. S172
 artikel
105 E-POSTERS – DMD – OUTCOME MEASURES Bhullar, G.
 2019
 29 S1 p. S176
 artikel
106 E-POSTERS – EARLY ONSET MUSCLE DISEASE – CASE REPORTS Medne, L.
 2019
 29 S1 p. S202-S203
 artikel
107 E-POSTERS – INFLAMMATORY MYOPATHIES AND MUSCULAR DYSTROPHIES – CASE REPORTS Silwal, A.
 2019
 29 S1 p. S74
 artikel
108 E-POSTERS – MITOCHONDRIAL / METABOLIC DISEASES –CASE REPORTS Ishiyama, A.
 2019
 29 S1 p. S70
 artikel
109 E-POSTERS – MUSCLE IMAGING Steenkjaer, C.
 2019
 29 S1 p. S109
 artikel
110 E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS Fraczek, A.
 2019
 29 S1 p. S198
 artikel
111 E-POSTERS – NEXT GENERATION SEQUENCING Topf, A.
 2019
 29 S1 p. S180
 artikel
112 E-POSTERS - OUTCOME MEASURES Lee, J.
 2019
 29 S1 p. S115-S116
 artikel
113 EP.52Overnight pulse oximetry for respiratory progression screening in a neuromuscular service McCallum, M.
 2019
 29 S1 p. S116
 artikel
114 EP.73Pain interference in children and adults with Duchenne and Becker muscular dystrophy Bronson, A.
 2019
 29 S1 p. S173-S174
 artikel
115 EP.36PATCHS MRI score correlates with clinical severity in facioscapulohumeral muscular dystrophy Liu, Y.
 2019
 29 S1 p. S111
 artikel
116 EP.95Patient perception of outcome measures for non-ambulant Duchenne muscular dystrophy patients Naarding, K.
 2019
 29 S1 p. S180
 artikel
117 EP.35Patterns of muscle involvement in SMA patients Brogna, C.
 2019
 29 S1 p. S111
 artikel
118 EP.26Phenotype may predict the clinical severity of facioscapulohumeral muscular dystrophy Liu, Y.
 2019
 29 S1 p. S77
 artikel
119 EP.41Project HERCULES: could international collaboration on value assessment change clinical practice? Abrams, K.
 2019
 29 S1 p. S112-S113
 artikel
120 EP.84Quality of life in patients with Duchenne muscular dystrophy Winner, C.
 2019
 29 S1 p. S177
 artikel
121 EP.33Quantitative analysis of muscle bundles of patients with myotonic dystrophy type 1, using CT impairment ratio Nakayama, T.
 2019
 29 S1 p. S110
 artikel
122 EP.32Quantitative assessment of muscle involvement in limb girdle muscular dystrophy 2Aand 2B Nakayama, T.
 2019
 29 S1 p. S110
 artikel
123 EP.77Real-world associations between motor function and lean body mass in the arms and legs in patients with Duchenne muscular dystrophy Marden, J.
 2019
 29 S1 p. S175
 artikel
124 EP.24Recessive mutations in CAV3 - a new differential diagnosis of early-onset neuromuscular disorders Fernández-García, M.
 2019
 29 S1 p. S77
 artikel
125 EP.122Recurrent pneumothorax in an adult case of Ullrich congenital muscular dystrophy – case report and review of literature Desikan, M.
 2019
 29 S1 p. S203
 artikel
126 EP.94Reliability and validity of trunk control measurement scale in Duchenne muscular dystrophy Bulut, N.
 2019
 29 S1 p. S180
 artikel
127 EP.74Review of glucocorticoid treatment effects in an adult population of Duchenne muscular dystrophy attending the National Hospital for Neurology and Neurosurgery in London Desikan, M.
 2019
 29 S1 p. S174
 artikel
128 EP.43Review of the regional orthotic services for children with neuromuscular disorders Alhaswani, Z.
 2019
 29 S1 p. S113
 artikel
129 EP.125SCN4A mutation causes episodic myotonia and persistent paralysis with internalized blood vessels in skeletal muscle Zheng, J.
 2019
 29 S1 p. S204
 artikel
130 EP.123Selenoprotein-related congenital myopathy in two siblings Herguner, O.
 2019
 29 S1 p. S203-S204
 artikel
131 EP.47Sharing evidence-based physiotherapy for neuromuscular patients through a digital learning platform: description of a service development project Rosenberger, A.
 2019
 29 S1 p. S114
 artikel
132 EP.27Sporadic late-onset nemaline myopathy: an unusual case misdiagnosed as immune-mediated necrotizing myopathy Pehl, D.
 2019
 29 S1 p. S77-S78
 artikel
133 EP.97Targeted sequencing reveals rare variants in non-coding regions of CAPN3 in Polish limb-girdle muscular dystrophy patients Macias, A.
 2019
 29 S1 p. S181
 artikel
134 EP.34The companion analysis of MR and ultrasound images could suggest small-size pathological findings Kurashige, T.
 2019
 29 S1 p. S111
 artikel
135 EP.91The DMD-Hub, a collaboration to facilitate trials and increase trial capacity in the UK Heslop, E.
 2019
 29 S1 p. S179
 artikel
136 EP.86The effect of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy Güneş, Y.
 2019
 29 S1 p. S177-S178
 artikel
137 EP.80The effects of steroid treatment on respiratory function in adults with Duchenne muscular dystrophy after loss of ambulation Pietrusz, A.
 2019
 29 S1 p. S176
 artikel
138 EP.79The impact of ventilation on non-ambulatory patients with DMD Verhaart, I.
 2019
 29 S1 p. S175
 artikel
139 EP.49The muscular dystrophy association neuromuscular observational research (MOVR) Data Hub Pavlath, G.
 2019
 29 S1 p. S115
 artikel
140 EP.60There is not loss of ambulation in three DMD brothers after 16 years old Escobar Cedillo, R.
 2019
 29 S1 p. S170
 artikel
141 EP.90The relationship between "fear of falling" and physical performance, and quality of life in children with Duchenne muscular dystrophy Alemdaroğlu-Gürbüz, I.
 2019
 29 S1 p. S178-S179
 artikel
142 EP.40The strategic role of the research nurse: no research nurse, no trial Cubells, M.
 2019
 29 S1 p. S112
 artikel
143 EP.107Transthyretin amyloidosis with variant Ile93Val mutation Kim, W.
 2019
 29 S1 p. S199
 artikel
144 EP.118Triple trouble or normal aging? Alonso-Jimenez, A.
 2019
 29 S1 p. S202
 artikel
145 EP.127Ullrich congenital muscular dystrophy in a boy with 21q22.3 deletion: a revisited diagnosis Simsek Kiper, P.
 2019
 29 S1 p. S205
 artikel
146 EP.105Unilateral calf hypertrophy due to focal myositis induced by S1 radiculopathy Ekmekci, O.
 2019
 29 S1 p. S198-S199
 artikel
147 EP.30Usefulness of extraocular muscle imagery in the diagnosis of myasthenia gravis and chronic progressive external ophthalmoplegia Lepetit, M.
 2019
 29 S1 p. S109-S110
 artikel
148 EP.17Vaccination as possible trigger of anti-SRP mediated necrotizing myopathy - a case report Cavalcanti, J.
 2019
 29 S1 p. S75
 artikel
149 EP.15Valosin-containing protein-related myopathy and Meige's syndrome: just a coincidence or not? Papadopoulos, C.
 2019
 29 S1 p. S74
 artikel
150 EP.37Whole-body MRI pattern in pediatric patients with sarcoglycanopathies Costa Comellas, L.
 2019
 29 S1 p. S111-S112
 artikel
151 EXTRA-MUSCULAR MANIFESTATIONS IN NMD Doorenweerd, N.
 2019
 29 S1 p. S117
 artikel
152 EXTRA-MUSCULAR MANIFESTATIONS IN NMD Alves, C.
 2019
 29 S1 p. S118
 artikel
153 FSHD Cup, E.
 2019
 29 S1 p. S52
 artikel
154 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY Ishigaki, K.
 2019
 29 S1 p. S167-S168
 artikel
155 GENE EDITING AND MOLECULAR THERAPY Escobar Fernandez, H.
 2019
 29 S1 p. S150
 artikel
156 I.11AAV vectors and the host immune system: a complicated relationship Mingozzi, F.
 2019
 29 S1 p. S121-S122
 artikel
157 I.6Arthrogryposis multiplex congenita; new genes & old acquaintances Schuelke, M.
 2019
 29 S1 p. S117
 artikel
158 I.10Gene variant databases: driving research, diagnosis, treatment and interaction den Dunnen, J.
 2019
 29 S1 p. S121
 artikel
159 I.3Glycosylation related myopathies Lefeber, D.
 2019
 29 S1 p. S37-S38
 artikel
160 I.7Improved survival of patients with neuromuscular conditions by cardiac preventive measures Wahbi, K.
 2019
 29 S1 p. S117
 artikel
161 INFLAMMATORY MYOPATHIES Yamashita, S.
 2019
 29 S1 p. S41
 artikel
162 I.4Physical exercise training in patients with neuromuscular disorders Jeppesen, T.
 2019
 29 S1 p. S38
 artikel
163 I.8Reversible formation of TDP-43 assemblies during skeletal muscle regeneration Olwin, B.
 2019
 29 S1 p. S117-S118
 artikel
164 I.2Skeletal muscle lipid metabolism - diagnostics, pathophysiology and treatment options Orngreen, M.
 2019
 29 S1 p. S37
 artikel
165 KEYNOTE LECTURE Faisal, A.
 2019
 29 S1 p. S206
 artikel
166 LIMB GIRDLE MUSCULAR DYSTROPHIES Bobadilla, E.
 2019
 29 S1 p. S97
 artikel
167 LIPID MYOPATHIES Natera-de Benito, D.
 2019
 29 S1 p. S65-S66
 artikel
168 McARDLE DISEASE Quinlivan, R.
 2019
 29 S1 p. S82
 artikel
169 METABOLIC DISTURBANCES IN NEUROMUSCULAR DISEASES Inoue, M.
 2019
 29 S1 p. S38
 artikel
170 METABOLIC DISTURBANCES IN NEUROMUSCULAR DISEASES Laforêt, P.
 2019
 29 S1 p. S37
 artikel
171 MITOCHONDRIAL DISEASES Wegberg van, A.
 2019
 29 S1 p. S56
 artikel
172 MOLECULAR THERAPEUTIC APPROACHES Best, H.
 2019
 29 S1 p. S39-S40
 artikel
173 MRI – MUSCLE IMAGING Reyngoudt, H.
 2019
 29 S1 p. S153-S154
 artikel
174 MUSCLE HOMEOSTASIS Franekova, V.
 2019
 29 S1 p. S85
 artikel
175 MYASTHENIA GRAVIS Nguyen, D.
 2019
 29 S1 p. S190
 artikel
176 MYOFIBRILLAR AND AUTOPHAGIC MYOPATHIES Sugie, K.
 2019
 29 S1 p. S63
 artikel
177 MYOTONIA Vlodavets, D.
 2019
 29 S1 p. S69
 artikel
178 MYOTONIC DYSTROPHY von Landenberg, C.
 2019
 29 S1 p. S47-S48
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179 NEW GENES AND DISEASES Yoon, G.
 2019
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180 NEXT GENERATION SEQUENCING Penttilä, S.
 2019
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181 O.37AI-based muscle histopathologist can differentiate major muscular dystrophies better than human Kabeya, Y.
 2019
 29 S1 p. S126-S127
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182 O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM) Echaniz-Laguna, A.
 2019
 29 S1 p. S39
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183 O.10A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy Bolduc, V.
 2019
 29 S1 p. S40-S41
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184 O.39ASPIRO phase 1/2 gene therapy trial in X-linked motubular myopathy (XLMTM): update on preliminary safety and efficacy findings Dowling, J.
 2019
 29 S1 p. S207
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185 O.23A 10 year prospective study on the effects of enzyme replacement therapy in adult Pompe patients Harlaar, L.
 2019
 29 S1 p. S122
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186 O.14B3GNT4 deficiency: a new α-dystroglycanopathy causing late-onset progressive brain atrophy and muscular dystrophy Vissing, J.
 2019
 29 S1 p. S118-S119
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187 O.24Biodistribution of onasemnogene abeparvovec (AVXS-101) DNA, mRNA, and SMN protein in human tissue Kaspar, B.
 2019
 29 S1 p. S122-S123
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188 O.36Defective lysosome homeostasis during autophagy causes skeletal muscle disease McGrath, M.
 2019
 29 S1 p. S126
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189 O.16Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics Ravenscroft, G.
 2019
 29 S1 p. S119
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190 O.35Disruption of bioavailability of TGFβ in collagen VI-related muscular dystrophy Mohassel, P.
 2019
 29 S1 p. S126
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191 O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown Mohassel, P.
 2019
 29 S1 p. S40
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192 O.8DUX4 mRNA silencing with CRISPR-Cas13 gene therapy as a prospective treatment for Facioscapulohumeral muscular dystrophy Rashnonejad, A.
 2019
 29 S1 p. S40
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193 O.11Dystrophin gene codon usage lacks extreme codon bias and shows non-random codon distribution of disease-causing mutations Fang, M.
 2019
 29 S1 p. S41
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194 O.29Engineering stem cell fate determinants for myogenic cell therapies: Notch and PDGF signalling promote stemness and migration of muscle satellite cells and human iPS cell derived myogenic progenitors Gerli, M.
 2019
 29 S1 p. S124
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195 O.32Genome editing of expanded CTG repeats within the human DMPK gene reduces nuclear RNA foci in muscle of DM1 mice Lo Scrudato, M.
 2019
 29 S1 p. S125
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196 O.2Growth differentiation factor 15 is a valuable biomarker of therapeutic response for TK2 deficient myopathy Domínguez-González, C.
 2019
 29 S1 p. S38
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197 O.21Immune checkpoint inhibitor-associated myositis: a new entity with a poor prognosis Anquetil, C.
 2019
 29 S1 p. S121
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198 O.40Intrathecal administration of onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2): phase 1/2a study (STRONG) Finkel, R.
 2019
 29 S1 p. S207
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199 O.34Leiomodin-3 (LMOD3) deficiency affects contractile function and structure of fast muscle fibres Yuen, M.
 2019
 29 S1 p. S125-S126
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200 O.3MiR-379 link glucocorticoid treatment to mitochondrial dysfunction in Duchenne muscular dystrophy Sanson, M.
 2019
 29 S1 p. S38-S39
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201 O.15MRI as a tool to indicate early diaphragmatic weakness in adult patients with Pompe disease Harlaar, L.
 2019
 29 S1 p. S119
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202 O.20Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy Savarese, M.
 2019
 29 S1 p. S120-S121
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203 O.13Nemaline myopathy patients with mutations in KBTBD13 display a cardiac phenotype de Winter, J.
 2019
 29 S1 p. S118
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204 O.19PAX7 deficiency causes mild congenital myopathy with rigid spine and respiratory insufficiency Amthor, H.
 2019
 29 S1 p. S120
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205 O.25Phase 1 clinical trial of losmapimod in FSHD: safety, tolerability and target engagement Mellion, M.
 2019
 29 S1 p. S123
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206 O.6Pre-clinical development of SPK-3006, an investigational liver-directed AAV gene therapy for the treatment of Pompe disease Armour, S.
 2019
 29 S1 p. S39
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207 O.31Proteomic profiling unravels a key role of CD74, CD163 and STAT1 in sporadic inclusion body myositis Preusse, C.
 2019
 29 S1 p. S124-S125
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208 O.18Recessive mutations in the myosin chaperone UNC-45B impair muscle myofibrillar integrity, manifesting as progressive myopathy with eccentric cores Donkervoort, S.
 2019
 29 S1 p. S120
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209 O.28Safety and tolerability of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy: results from a phase 1 clinical trial Wagner, K.
 2019
 29 S1 p. S124
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210 O.33Subcutaneous immunoglobulin in myasthenia gravis: results of a North American open label study Pasnoor, M.
 2019
 29 S1 p. S125
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211 O.41Sunfish part 1: 18-month safety and exploratory outcomes of risdiplam (RG7916) treatment in patients with type 2 or 3 spinal muscular atrophy Mercuri, E.
 2019
 29 S1 p. S208
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212 O.26The α-actinin-3 deficiency is related to early onset of dilated cardiomyopathy in Duchenne muscular dystrophy patients Nagai, M.
 2019
 29 S1 p. S123
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213 O.42Treatment of young boys with Duchenne muscular dystrophy with the NF-κB inhibitor edasalonexent showed a slowing of disease progression as assessed by MRI and functional measures Finkel, R.
 2019
 29 S1 p. S208
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214 O.27Ultra-exome: a new tool to solve the unsolved NMD Torella, A.
 2019
 29 S1 p. S123-S124
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215 OUTCOME MEASURES Servais, L.
 2019
 29 S1 p. S104
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216 P.380 Donkervoort, S.
 2019
 29 S1 p. S192
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217 P.199Accelerometer prediction equations in boys with Duchenne muscular dystrophy: importance of disease-specific equations Bendixen, R.
 2019
 29 S1 p. S107
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218 P.171A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study Hilsden, H.
 2019
 29 S1 p. S98
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219 P.378A complex movement disorder associated with myasthenic features: a novel phenotype caused by a homozygous NGLY1 mutation Jacquier, D.
 2019
 29 S1 p. S191-S192
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220 P.202A composite prognostic score for time to loss of walking ability in Duchenne muscular dystrophy (DMD) Goemans, N.
 2019
 29 S1 p. S108
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221 P.144A cross sectional and longitudinal miRNA profiling study identified a set of novel free-circulating and exosomal miRNAs dysregulated in plasma from Duchenne muscular dystrophy patients Catapano, F.
 2019
 29 S1 p. S90
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222 P.12Active immunization mouse model of sporadic inclusion body myositis by cN1A peptides Tawara, N.
 2019
 29 S1 p. S44-S45
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223 P.194Activity monitoring in Duchenne and limb girdle muscular dystrophies: a longitudinal natural history study Miller, N.
 2019
 29 S1 p. S105-S106
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224 P.316Adeno-associated virus mediated SUMO1 overexpression improves cardiac disease phenotype in mouse models of Duchenne muscular dystrophy Lee, P.
 2019
 29 S1 p. S159
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225 P.161ADSSL1 myopathy is a fatigability disease presenting both nemaline bodies and lipid droplets in skeletal muscles – A study of 57 Japanese cases Saito, Y.
 2019
 29 S1 p. S95
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226 P.397Adult NorthStar clinical network collaboration to improve standards of care in adults with Duchenne muscular dystrophy living in the UK Pietrusz, A.
 2019
 29 S1 p. S197
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227 P.25A longitudinal study of autism spectrum disorders in children, adolescents and young adults with congenital and childhood myotonic dystrophy type 1 Ekström, A.
 2019
 29 S1 p. S48-S49
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228 P.152A longitudinal study of miRNA biomarkers in paediatric Duchenne muscular dystrophy patients Trifunov, S.
 2019
 29 S1 p. S93
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229 P.213Ambulation status, role participation and caregiver assistance among individuals with spinal muscular atrophy type III: results from the 2018 cure SMA membership survey Belter, L.
 2019
 29 S1 p. S128-S129
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230 P.99A multiplex in situ hybridisation and immunohistochemical (ISH-IHC) assay to study developmental changes in relation to fibre type and sodium channels in human skeletal muscle and their contribution to disease severity Matthews, E.
 2019
 29 S1 p. S69-S70
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231 P.257Analysis of 34 Korean patients of GNE mutations associated distal myopathy with rimmed vacuoles La, Y.
 2019
 29 S1 p. S142
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232 P.119Analysis of the structural and metabolic consequences of McArdle disease using the murine model Real-Martínez, A.
 2019
 29 S1 p. S83
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233 P.50An in situ hybridization-based method for detecting DUX4 RNA expression in vitro Amini Chermahini, G.
 2019
 29 S1 p. S55
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234 P.133A novel CaVβ1 isoform connecting voltage sensing with muscle mass homeostasis Traore, M.
 2019
 29 S1 p. S87
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235 P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1 Beck, M.
 2019
 29 S1 p. S194
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236 P.178A novel mutation in TNPO3 causes congenital limb girdle myopathy with slow progression Vihola, A.
 2019
 29 S1 p. S100-S101
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237 P.383Antisense oligonucleotides therapy for COL6-related congenital muscular dystrophy Aguti, S.
 2019
 29 S1 p. S193
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238 P.341A phase 2 randomized placebo-control trial of domagrozumab in boys with Duchenne muscular dystrophy (DMD) Marraffino, S.
 2019
 29 S1 p. S167
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239 P.65A prospective 4 years follow up longitudinal study of quantitative muscle MRI in a large cohort of patients with late onset Pompe disease Nuñez-Peralta, C.
 2019
 29 S1 p. S59-S60
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240 P.302A quantitative method to assess muscle edema using short TI inversion recovery MRI Dahlqvist, J.
 2019
 29 S1 p. S155
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241 P.24A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan Shichiji, M.
 2019
 29 S1 p. S48
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242 P.60A retrospective study of the combination of pyrimidine nucleos(t)ides in patients with thymidine kinase 2 (TK2) deficiency Quan, J.
 2019
 29 S1 p. S58
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243 P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy Villar-Quiles, R.
 2019
 29 S1 p. S136-S137
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244 P.344Assessment of longitudinal developmental milestones in Fukuyama congenital muscular dystrophy Shimizu-Motohashi, Y.
 2019
 29 S1 p. S168
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245 P.270Association between plasma phosphorylated neurofilament heavy chain and efficacy endpoints in the nusinersen NURTURE study Muntoni, F.
 2019
 29 S1 p. S146
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246 P.342Ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene – evaluation through a managed access agreement Ayyar-Gupta, V.
 2019
 29 S1 p. S167
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247 P.385Automated diagnosis of collagen VI related muscular dystrophies using advanced image analysis and machine learning Roldán, M.
 2019
 29 S1 p. S194
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248 P.182Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients ten Dam, L.
 2019
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249 P.370BIO101 demonstrates combined beneficial effects on muscle and motor neurons in a mouse model of severe spinal muscular atrophy Latil, M.
 2019
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250 P.311BIO101 demonstrates combined beneficial effects on skeletal muscle and respiratory functions in a mouse model of Duchenne muscular dystrophy Dilda, P.
 2019
 29 S1 p. S158
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251 P.360Body composition predicts clinical response in SMA patients treated with nusinersen Baranello, G.
 2019
 29 S1 p. S186-S187
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252 P.266Bone mass acquisition and determinants of bone mineral density and fragility fractures in DMD patients Panicucci, C.
 2019
 29 S1 p. S144-S145
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253 P.219Bone mass, nutrition and motor function in children and adolescents with spinal muscular atrophy type II and III Kroksmark, A.
 2019
 29 S1 p. S130
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254 P.68Breed specifics of muscle function changes in the Austrian Haflinger and Austrian Noriker horses with polysaccharide storage myopathy (PSSM) Zsoldos, R.
 2019
 29 S1 p. S60
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255 P.210Burden of illness of spinal muscular atrophy type 1 (SMA1) Droege, M.
 2019
 29 S1 p. S127-S128
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256 P.251Canary Islands: clinical data from a long homogenous cohort of OPMD patients with (GCN)15 expansion Alonso-Perez, J.
 2019
 29 S1 p. S140
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257 P.187CAPN3 c.598_612delTTCTGGAGTGCTCTG: another CAPN3 dominant variant? Mroczek, M.
 2019
 29 S1 p. S103
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258 P.247Capturing disease progression in oculopharyngeal muscular dystrophy (OPMD) Kroon, R.
 2019
 29 S1 p. S139
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259 P.16Cardiac and respiratory complications in necrotizing autoimmune myopathy Triplett, J.
 2019
 29 S1 p. S46
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260 P.320Cardiac phenotypic expressions in female carriers of a canine model of Duchenne muscular dystrophy Fromes, Y.
 2019
 29 S1 p. S160
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261 P.272Cardiac troponin T (cTnT) as a highly sensitive parameter for spinal muscular atrophy (SMA) in a floppy infant Birsak, T.
 2019
 29 S1 p. S146-S147
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262 P.87Carnitine deficiency in patients with neuromuscular diseases on long-term tube feeding Ueno, K.
 2019
 29 S1 p. S66
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263 P.322Characterisation of C-C motif chemokine ligand 2 as a serum biomarker in the deltaE50-MD dog model of Duchenne muscular dystrophy Riddell, D.
 2019
 29 S1 p. S161
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264 P.326Characterization of the ion channels involved in the increase of sarcolemmal calcium permeability in the dystrophin-deficient DMDmdx rat model Creisméas, A.
 2019
 29 S1 p. S162
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265 P.135Chemokine CXCL12 as an intrinsic modulator of skeletal muscle mass in healthy humans Maeda, Y.
 2019
 29 S1 p. S87
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266 P.276Childhood-onset spinal muscular atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant Sedghi, M.
 2019
 29 S1 p. S148
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267 P.63Chronic progressive external ophthalmoplegia (CPEO) and CPEO-plus cohort of 54 patients from the Netherlands Schoenaker, R.
 2019
 29 S1 p. S59
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268 P.96Clinical and genetic aspects in Korean patients with hereditary spastic paraplegia Kim, H.
 2019
 29 S1 p. S68-S69
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269 P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study Annoussamy, M.
 2019
 29 S1 p. S79-S80
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270 P.346Clinical course and prognosis of inpatients with Fukuyama congenital muscular dystrophy in specialized institutions for muscular dystrophy in Japan Ogata, K.
 2019
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271 P.114Clinical, histological, and genetic characterization of PYROXD1-related myopathy Lornage, X.
 2019
 29 S1 p. S82
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272 P.110Clinical, morphological and genetic data in Italian patients with fiber-type-disproportion Maggi, L.
 2019
 29 S1 p. S80-S81
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273 P.365Clinical outcomes in patients with spinal muscular atrophy type 1, 2 or 3 after 1 year of nusinersen therapy Waldrop, M.
 2019
 29 S1 p. S188
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274 P.184Clinical outcome study for dysferlinopathy: a longitudinal examination of the upper limb involvement using physiotherapy outcome measures and T1w MRI James, M.
 2019
 29 S1 p. S102-S103
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275 P.168Clinical spectrum and histopathological characterization of alpha-dystroglycanopathies Bobadilla, E.
 2019
 29 S1 p. S97
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276 P.46Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, multi-center prospective study LoRusso, S.
 2019
 29 S1 p. S54
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277 P.235Clinico-pathological characterisation of CACNA1S related congenital myopathy in children Pal-Magdics, M.
 2019
 29 S1 p. S135
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278 P.11Clinicopathological difference between anti-SRP and anti-HMGCR myopathy Eura, N.
 2019
 29 S1 p. S44
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279 P.394Coalition to cure calpain 3: a patient organization committed to treating and ultimately curing limb girdle muscular dystrophy type 2A Levy, J.
 2019
 29 S1 p. S196-S197
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280 P.367Comparative analysis of single stranded rAAV vectors expressing human SMN1 in correcting spinal muscular atrophy in mice Marinello, M.
 2019
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281 P.18Comparing histological features and molecular gene expression in anti-Jo1-, anti-PL-7 and anti-PL-12 antibody-positive patients Preusse, C.
 2019
 29 S1 p. S46-S47
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282 P.109Congenital myopathy in patients with Kabuki and Au-Kline syndromes - Double trouble or expansion of the phenotypes? Sarkozy, A.
 2019
 29 S1 p. S80
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283 P.158Congenital-onset hypertrophic cardiomyopathy and skeletal myopathy with nemaline rods and actin filament aggregates due to likely pathogenic recessive variants in CFL2 Phadke, R.
 2019
 29 S1 p. S94
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284 P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death Coppens, S.
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285 P.150Consistency of 48-week changes in North Star Ambulatory Assessment (NSAA) between Duchenne muscular dystrophy natural history data and clinical trial placebo arms, after adjustment for prognostic factors Goemans, N.
 2019
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286 P.261Consistent long-term effect of idebenone in reducing respiratory function decline in advanced patients with Duchenne muscular dystrophy Buyse, G.
 2019
 29 S1 p. S143
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287 P.61Continuous renal replacement therapy in children with mitochondrial diseases Lee, H.
 2019
 29 S1 p. S58
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288 P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients Torelli, S.
 2019
 29 S1 p. S90
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289 P.73Correlation of gluteus medius muscle activities at walk and trot with myopathy changes on biopsies of the exact same locations in horses without clinical signs of type 1 polysaccharide storage myopathy Licka, T.
 2019
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290 P.248CRISPR-Cas9 tagging allows the detection of endogenous gne in mice Harazi, A.
 2019
 29 S1 p. S139
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291 P.262Crossing thresholds and changing rates of respiratory function decline are predictive of clinical outcomes in Duchenne muscular dystrophy (DMD) McDonald, C.
 2019
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292 P.372CSF miRNAs as biomarkers to indicate the clinical response to Spinraza treatment for patients with spinal muscular atrophy Doreste, B.
 2019
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293 P.138C-terminal titin fragments in mouse muscles Sarparanta, J.
 2019
 29 S1 p. S88
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294 P.131Cytoglobin modulates skeletal muscle regeneration by targeting canonical Wnt signaling Singh, S.
 2019
 29 S1 p. S86
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295 P.205Daily life digital biomarkers for longitudinal monitoring of Duchenne muscular dystrophy with wearable sensors Ricotti, V.
 2019
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296 P.54Defects in iron-sulphur cluster assembly proteins ISCU and FDX2 cause characteristic mitochondrial myopathy Thomsen, C.
 2019
 29 S1 p. S56-S57
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297 P.101Defining the phenotype of Andersen-Tawil syndrome: the largest reported series Vivekanandam, V.
 2019
 29 S1 p. S70
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298 P.03Delayed diagnosis and treatment leads to worse outcome in immune mediated necrotizing myopathy Phan, C.
 2019
 29 S1 p. S42
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299 P.86Depends on how you look: hereditary spastic paraplegia, leukodystrophy or brain iron accumulation Eroglu-Ertugrul, N.
 2019
 29 S1 p. S66
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300 P.118Descriptions of pain in McArdle disease Chatfield, S.
 2019
 29 S1 p. S83
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301 P.47Design of a biomarker of DUX4 activity to evaluate losmapimod treatment effect in FSHD Phase 2 trials Ronco, L.
 2019
 29 S1 p. S54-S55
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302 P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness Topf, A.
 2019
 29 S1 p. S99-S100
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303 P.275Determination of protein markers in skeletal muscle of SMA type 3 patients Kölbel, H.
 2019
 29 S1 p. S147
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304 P.296Developing an RNAseq based diagnostic test for myopathy patients Lehtinen, S.
 2019
 29 S1 p. S153
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305 P.121Development of a rowing ergometer protocol to test whole body VO2peak in McArdle disease Godfrey, R.
 2019
 29 S1 p. S83-S84
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306 P.321Diaphragm echodensity and function in mdx mice by non-invasive ultrasonography: validation and correlation with in vivo and ex vivo functional readouts Mantuano, P.
 2019
 29 S1 p. S160-S161
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307 P.300Diaphragm imaging in Duchenne muscular dystrophy (DMD) D'Angelo, M.
 2019
 29 S1 p. S154-S155
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308 P.1282, 6-Dimethoxy-1, 4-benzoquinone increases skeletal muscle mass through Akt/mTOR signaling pathway Son, H.
 2019
 29 S1 p. S85-S86
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309 P.70Discontinuation of enzyme replacement therapy in adults with Pompe disease: evaluating motives and clinical course van Kooten, H.
 2019
 29 S1 p. S61
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310 P.42Discovery of novel small molecule treatment options for FSHD Geese, M.
 2019
 29 S1 p. S53
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311 P.299Disease progression using quantitative MRI outcome measures in limb girdle muscular dystrophy 2L Kass, K.
 2019
 29 S1 p. S154
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312 P.159Disease spectrum in nemaline myopathy due to LMOD3 mild founder mutation in Austria and southern Germany Weiss, S.
 2019
 29 S1 p. S94-S95
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313 P.284Disordered brain connectivity and reduced grey matter volume in Duchenne muscular dystrophy Maresh, K.
 2019
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314 P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features Rees, M.
 2019
 29 S1 p. S135
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315 P.132Dissection of UBA5 dysfunction in nervous system disorders Serrano, R.
 2019
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316 P.136DNAJB6 integrates sarcomere protein homeostasis and myogenic signaling in coordinated skeletal muscle stress response Findlay, A.
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317 P.268Does 6 minute walk test distance correlate with motor function assessment and timed tests in ambulant boys with Becker muscular dystrophy? Abbott, L.
 2019
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318 P.375Does rhythmic auditory stimulation influence walking speed in the 6-minute walk test in patients with myasthenia gravis? Andersen, L.
 2019
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319 P.246Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member Tajsharghi, H.
 2019
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320 P.243Dusty core disease (DuCD): a novel morphological hallmark for RYR1 recessive myopathies Garibaldi, M.
 2019
 29 S1 p. S137-S138
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321 P.198Dynamic arm study: quantitative description of upper extremity function and activity of people with spinal muscular atrophy Janssen, M.
 2019
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322 P.290Dystrophinopathic subjects with a specific mega-deletion of exons 45-55 in the DMD gene, as a template for CRISPR/Cas9 therapy in Duchenne muscular dystrophy Poyatos-García, J.
 2019
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323 P.337Dystrophin restoration by exon 53 skipping in patients with Duchenne muscular dystrophy after viltolarsen treatment: phase 2 study update Clemens, P.
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324 P.323Dystrophin transcript dynamics in health and disease as revealed by multiplex in situ hybridisation Hildyard, J.
 2019
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325 P.332Effect of linker protein expression on LAMA2-related muscular dystrophy (MDC1A) Reinhard, J.
 2019
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326 P.376Effect of low-dose rituximab treatment on T- and B-cell lymphocyte imbalance in refractory myasthenia gravis Jing, S.
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327 P.331Effects of N-acetyl-L-cysteine and vitamin E on congenital muscular dystrophy type 1A disease progression in mice Harandi, V.M.
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328 P.174Establishing divergent phenotypes in limb girdle muscular dystrophies Iammarino, M.
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329 P.196Estimating clinically meaningful change thresholds in the NORTH STAR ambolatory assessment (NSAA) and four-stair climb (4SC) in Duchenne muscular dystrophy (DMD) Wong, B.
 2019
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330 P.137ETS1 facilitates muscle satellite cell proliferation and stemness perpetuation Kumutpongpanich, T.
 2019
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331 P.120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses Pinós, T.
 2019
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332 P.179European collaboration on clinical and genetic heterogeneity of sarcoglycanopathies Alonso-Perez, J.
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333 P.319Evaluation and reproducibility of a 6 minute walk test (6MWT) for non-invasive, phenotypic assessment of deltaE50-MD dogs, a model of Duchenne muscular dystrophy Hornby, N.
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334 P.209Event-free survival and motor milestone achievement following onasemnogene abeparvovec and nusinersen interventions contrasted to natural history for spinal muscular atrophy t1 (SMA1) patients Dabbous, O.
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335 P.20Expanding the myasthenia-myositis association spectrum: clinical, morphological and immunological data form a large case series Garibaldi, M.
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336 P.364Experiences from a 12 month period of treatment with nusinersen on motor function in Swedish patients with spinal muscular atrophy Wahlgren, L.
 2019
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337 P.164Expression of alternative nebulin isoforms containing super repeat S21a or S21b in skeletal muscle Laitila, J.
 2019
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338 P.41Extra-skeletal muscle manifestations of facioscapulohumeral muscular dystrophy Kelly, C.
 2019
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339 P.200Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo® Annoussamy, M.
 2019
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340 P.92Feasibility and validation of modified oculobulbar facial respiratory score (mOBFRS) in amyotrophic lateral sclerosis Araujo, N.
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341 P.05Feasibility and validation of modified oculobulbar facial respiratory score (mOBFRS) in sporadic inclusion body myositis Araujo, N.
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342 P.259Feasibility of osteoporosis clinical trials in Duchenne muscular dystrophy: a survey of the opinion of families, young adults and neuromuscular clinicians Guglieri, M.
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343 P.122Feasibility open label trial shows no effect of sodium valproate for McArdle disease Scalco, R.
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344 P.190Feasibility, reliability and convergent validity for digital biomarkers captured via a smartphone application (app) to assess motor behaviors in individuals with spinal muscular atrophy (SMA) in the JEWELFISH trial Fischer, D.
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345 P.379Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS): A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions O'Rahelly, M.
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346 P.330Fibroadipose infiltration scores of specific muscles are influenced by disease duration in partial merosin deficiency Gómez-Andrés, D.
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347 P.353FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy Baranello, G.
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348 P.82First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation Kölbel, H.
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349 P.181Focal muscle contraction of biceps brachii - a clinical sign highly specific to dysferlinopathy El Sherif, R.
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350 P.170Follow-up of motor and cardiopulmonary function, joint mobility and extra-muscular manifestations in limb girdle muscular dystrophies Sofou, K.
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351 P.325Frequency characterisation of activity and behaviours in the deltaE50-MD dog model of Duchenne muscular dystrophy Karimjee, K.
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352 P.123Frequency of coronary artery disease in people with McArdle disease Pietrusz, A.
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353 P.204Full-body behaviour analytics reveals DMD disease state within the first few steps of the 6-minute-walk test Ricotti, V.
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354 P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy Juntas Morales, R.
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355 P.312Functional and histological improvements comparing 4 micro-dystrophin constructs in the mdx mouse model of DMD Potter, R.
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356 P.183Functional progression in dysferlinopathy: results of a 3-year natural history study Jacobs, M.
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357 P.228General movements assessment in infants with spinal muscular atrophy: a pilot study Yardımcı Lokmanoğlu, B.
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358 P.351Gene-replacement therapy (GRT) in spinal muscular atrophy type 1 (SMA1): long-term follow-up from the onasemnogene abeparvovec phase 1/2a clinical trial Mendell, J.
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359 P.339Genetically-engineered cells, and their secreted exosomes, as novel therapeutic candidates for Duchenne muscular dystrophy Rogers, R.
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360 P.21Genetic analysis of first-degree relatives with inclusion body myositis Nicolau, S.
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361 P.39Genetic and disease analysis of FSHD-linked 4q35 region in female Coats Disease patients Fitzsimons, R.
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362 P.36Genetic prevalence of myotonic dystrophy type 1: a population cohort study Butterfield, R.
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363 P.386Genome and transcriptome analysis of COLVI genes and characterization of a new promising cellular model Rossi, R.
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364 P.389Global FKRP registry Murphy, L.
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365 P.253GNE myopathy in Turkey: clinical features and novel mutations Durmus, H.
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366 P.10Growth differentiation factor-15 as a novel biomarker for idiopathic inflammatory myopathies De Paepe, B.
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367 P.232Hereditary myopathy with early respiratory failure in Chinese population Zhu, W.
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368 P.307Heterogeneous distribution of fatty infiltration - an important consideration in Becker muscular dystrophy clinical trials van de Velde, N.
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369 P.201Home-based video assessment of the quality of movement of patients with Duchenne: scoring scale development Leffler, M.
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370 P.172Identification and characterisation of CAPN3 splicing defect mutations in unexplained cases of LGMD patients from the MYO-SEQ project Duff, J.
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371 P.51Identification of the DUX4-targeted miRNome from a library of 1,881 natural human miRNAs Saad, N.
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372 P.80Imbalances in protein homeostasis caused by mutant desmin Clemen, C.
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373 P.14Immune-mediated neuromuscular complications of graft-versus-host disease Saw, J.
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374 P.84Impaired cargo-selective autophagy due to altered signaling causes the Z-disc myofibrillar disintegration in myofibrillar myopathy due to LDB3-A165V mutation in a knock-in mouse model Pathak, P.
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375 P.313Improvement of human induced pluripotent stem cells (hiPSCs) - based therapy of Duchenne muscular dystrophy by using mesenchymal stem cells (MSCs) Elhussieny, A.
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376 P.208Improving recognition of spinal muscular atrophy: a retrospective case note review Guglieri, M.
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377 P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM) Servais, L.
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378 P.327In-depth characterisation of brain pathology in mice lacking one or multiple brain dystrophin isoforms van Putten, M.
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379 P.89Infantile-onset lipid storage myopathy Indrawati, L.
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380 P.265Integrating clinical outcome measures, MRI and circulating biomarkers in subjects with Becker muscular dystrophy: a prospective longitudinal study Koeks, Z.
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381 P.08Interferon level assessed by ultrasensitive detection technology in myositis patients: a promising biomarker of disease activity in dermatomyositis and anti-synthetase syndrome Bolko, L.
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382 P.352Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): results from the SHINE study Kirschner, J.
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383 P.355Investigating an in-home body-weight support harness system to maximize treatment benefit in spinal muscular atrophy Iammarino, M.
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384 P.328In vivo comparison of different AAV-microutrophin constructs Starikova, A.
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385 P.57Isolated mitochondrial myopathy is common presentation in A3243G-related mitochondrial diseases Ji, K.
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386 P.124Is the expression of muscle glycogen phosphorylase tissue-specific? New perspectives on McArdle disease Francisco Llavero Bernal, F.
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387 P.363JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen Chiriboga, C.
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388 P.263Juvenile Duchenne muscular dystrophy patients with abnormal Q wave are at risk for early onset of cardiac dysfunction Yamamoto, T.
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389 P.127KER-050, a novel muscle anabolic, functions as a ligand trap that binds myo-catabolic TGFβ ligands and has reduced binding affinity for BMP9, a critical vascular remodeling ligand Lema, E.
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390 P.173Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function Astorga, C.
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391 P.333LAMA2-related congenital muscular dystrophy: clinical course in a large paediatric cohort Zambon, A.
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392 P.361Language development in spinal muscular atrophy (SMA) type 1 children treated with nusinersen Brusa, C.
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393 P.129Latent myostatin specific elimination by sweeping antibody® is a novel therapeutic approach to improve muscle strength Muramatsu, H.
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394 P.260Lean muscle mass changes in patients with Duchenne and Becker muscular dystrophies Wong, B.
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395 P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families Ben Yaou, R.
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396 P.176Limb-girdle muscular dystrophies (LGMD) C, D and E: long term clinical follow up, anatomopathological and molecular genetic study of in a cohort of 35 pediatric patients Ortez, C.
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397 P.295Linked-read whole genome sequencing in patients with congenital myopathy Lehtonen, J.
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398 P.88Lipid storage myopathies due to ETFDH and PNPLA2 mutations: MRI and microRNA role as biomarkers Angelini, C.
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399 P.373Longitudinal changes in electrophysiological findings caused by nusinersen administration in patients with spinal muscular atrophy type 2 or type 3 Arahata, Y.
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400 P.226Longitudinal study of the natural history of spinal muscular atrophy type 2 and 3 Exposito, J.
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401 P.148Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 Brogna, C.
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402 P.222Long term progression in type II spinal muscular atrophy: a retrospective observational study Mercuri, E.
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403 P.157L-tyrosine in nemaline myopathy – what do we know? Weiss, S.
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404 P.79Malignant cardiac phenotype after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous R349P desmin knock-in mice Stöckigt, F.
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405 P.191Maximal stride velocity detects positive and negative changes over 6- month-time period in ambulant patients with Duchenne muscular dystrophy Servais, L.
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406 P.177Measuring what matters in dysferlinopathy – linking functional ability to patient reported outcome measures Mayhew, A.
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407 P.309Mechanistic insights into Duchenne muscular dystrophy-associated cardiomyopathy Tassin, T.
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408 P.111Modelling autosomal dominant centronuclear myopathy in zebrafish Coppens, S.
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409 P.267Modifiers of respiratory and cardiac function in the Italian Duchenne muscular dystrophy network and CINRG Duchenne natural history study Bello, L.
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410 P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy Beuvin, M.
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411 P.212Mortality in patients with spinal muscular atrophy over the last 10 years: the UK experience Specht, S.
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412 P.151Motor performances in exon-2 duplication of the dystrophin gene Zambon, A.
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413 P.305MRI brachialis contractile cross-sectional area is correlated strongest to elbow flexion in non-ambulant Duchenne muscular dystrophy patients Naarding, K.
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414 P.318MRI evaluation of skeletal muscle in the deltaE50-MD dog model of Duchenne muscular dystrophy Hornby, N.
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415 P.306Multicentric MRI study in a cohort of FSHD2 patients: pattern definition and differences between FSHD1 and FSHD2 Tasca, G.
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416 P.288Multi-exon skipping by CRISPR/Cas9-mediated genome editing in GRMD dog Punzón, I.
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417 P.147Muscle biopsies in clinical trials for Duchenne muscular dystrophy – patients' and caregivers' perspective Verhaart, I.
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418 P.277Muscle contractility in spinobulbar muscular atrophy Dahlqvist, J.
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419 P.62Muscle multiple mitochondrial DNA deletions: a genetic biomarker to detect nuclear-gene mutations in mtDNA maintenance disorders? Serrano-Lorenzo, P.
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420 P.06Muscle ultrasound in patients with inclusion body myositis: differentiating from mimics Leeuwenberg, K.
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421 P.81Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy Schänzer, A.
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422 P.163Mutations in fast skeletal troponin C (TNNC2) cause contractile dysfunction van de Locht, M.
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423 P.106Mutation-specific therapy for X-linked myotubular myopathy Hayashi, S.
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424 P.377Myasthenia gravis (MG) anti-musk in Argentina: demographic, clinical findings and therapeutic response in a cohort of 56 patients Rugiero, M.
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425 P.236Myofibres with subsarcolemmal rims and/or central aggregates of mitochondria (SRCAM) are prevalent in congenital titinopathies Phadke, R.
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426 P.301Myo-Guide: A new artificial intelligence MRI-based tool to aid diagnosis of patients with muscular dystrophies Verdú-díaz, J.
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427 P.15Myopathies featuring early or prominent dysphagia Triplett, J.
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428 P.130MyoscreenTM, a drug discovery platform for disease modeling and the screening of compounds restoring muscle health Flaender, M.
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429 P.69NEO1 and NEO-EXT studies: exploratory efficacy of repeat avalglucosidase alfa dosing for up to 5 years in participants with late-onset Pompe disease (LOPD) Schoser, B.
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430 P.281Neurodevelopmental, behavioral and emotional features of Becker muscular dystrophy Lambert, J.
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431 P.280Neurodevelopmental, behavioral and emotional features of Duchenne muscular dystrophy Darmahkasih, A.
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432 P.393New advances in the neuromuscular diseases registry in Russia Vlodavets, D.
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433 P.58No effect of resveratrol supplementation in patients with mitochondrial myopathy - a randomized, double-blind, placebo-controlled, cross-over study Løkken, N.
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434 P.19Novel aspects in immune-mediated necrotizing myopathy with pipestem capillaries Schweizer, L.
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435 P.146Novel high-throughput digital analysis to quantify the amount of functional sarcolemmal dystrophin and myofibre regeneration in Duchenne muscular dystrophy clinical trial samples (exon 53 skipping with golodirsen) Scaglioni, D.
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436 P.162Novel Kbtbd13 R408C-knockin mouse model phenocopies NEM6 myopathy de Winter, J.
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437 P.293Novel splicing events in skeletal muscle revealed by RNA sequencing Jonson, P.
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438 P.34Nuclear envelope abnormalities in myotonic dystrophy primary myoblasts Meinke, P.
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439 P.366Nusinersen improves motor function in ambulatory SMA III patients Birsak, T.
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440 P.356Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy: interim results from the phase 2 NURTURE study Ryan, M.
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441 P.371Nusinersen treatment in spinal muscular atrophy: the experience of Bambino Gesù Children's Hospital D'Amico, A.
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442 P.369Nusinersen treatment in Type 1 spinal muscular atrophy: real-life clinical experience in Portugal Ribeiro, J.
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443 POMPE DISEASE AND METABOLIC DISORDERS Malfatti, E.
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444 P.349Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy Type 1 (SMA1): Pivotal phase 3 study (STR1VE) update Day, J.
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445 P.350Onasemnogene abeparvovec gene-replacement therapy (GRT) in pre-symptomatic spinal muscular atrophy (SMA) Schultz, M.
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446 P.37Onset and course of core symptoms in myotonic dystrophies Stahl, K.
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447 P.40Ophthalmological findings in facioscapulohumeral dystrophy Goselink, R.
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448 P.145Optimisation of a high–throughput digital script for multiplexed immunofluorescent analysis of sarcolemmal dystrophin - associated protein complex (DPC) and myofibre regeneration in entire transverse sections of muscle biopsies in Duchenne muscular dystrophy Scaglioni, D.
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449 P.91Optimization of AAV-mediated gene therapy for SOD1-linked ALS Biferi, M.
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450 P.345Optimizing antisense oligonucleotides for the treatment of Fukuyama muscular dystrophy Taniguchi-Ikeda, M.
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451 P.72Optimizing long-term outcome in classic infantile Pompe patients: effects of higher dosing and immunomodulation Poelman, E.
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452 P.291Overcoming barriers to establish a CRISPR/Cas9 edition protocol for human myoblasts Soblechero-Martin, P.
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453 P.67Overexpression of a constitutively active glycogen synthase in the GSL30 mouse leads to a polyglucosan myopathy Massey, C.
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454 P.180Paraspinal muscle affection in limb-girdle muscular dystrophy type 2I patients Revsbech, K.
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455 P.35Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations Joosten, I.
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456 P.231Paternal uniparental disomy of chromosome 19 unmasking a recessive variant in RYR1 in a case of congenital core myopathy with additional features Davis, M.
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457 P.29Patient reported outcome measures in myotonic dystrophy type 2 Montagnese, F.
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458 P.217Patterns of disease progression in patients with spinal muscular atrophy type 3 using the motor function measure Seferian, A.
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459 P.45Patterns of muscle involvement, predictive characteristics, and meaningful change for functional motor tasks in facioscapulohumeral muscular dystrophy Statland, J.
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460 P.32Perceived occupational competence, value of everyday activities, fatigue/daytime sleepiness and quality of life in adults with myotonic dystrophy type 1 Edofsson, U.
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461 P.94Peripheral myelin protein 2 - a novel mutation causing Charcot-Marie-Tooth neuropathy in a Bulgarian family Chamova, T.
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462 P.314Pharmacological activation of SERCA2a SUMOylation improves cardiac function and pathology in models of Duchenne muscular dystrophy Oh, J.
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463 P.02Phase 2/3 study of Arimoclomol in sporadic inclusion body myositis: study design Machado, P.
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464 P.230Phenotype and pathological variability in RYR1-related myopathy with compound heterozygous variants in Japan Ozaki, A.
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465 P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness Villar-Quiles, R.
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466 P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy Gargaun, E.
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467 P.242Phenotypic variability in a cohort of patients with TTN-related congenital myopathy Natera de Benito, D.
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468 P.250Phenotypic variability of GNE myopathy: stratification for clinical trial readiness Park, Y.
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469 P.195Physical activity monitoring using wrist-worn accelerometer in the assessment of patients with myositis Landon-Cardinal, O.
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470 P.134Physical and transcriptional characterization of human urinary stem cell populations Falzarano, M.
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471 P.211Pilot study of genetic newborn screening for spinal muscular atrophy in Germany: clinical results after more than a year Mueller-Felber, W.
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472 P.255Possible efficacy of rapamycin on myodegeneration in VCPDM mouse model Hara, K.
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473 P.53Potentially confounding variables of mitochondria biomarker GDF-15 Ishii, A.
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474 P.271Potential translation of neurofilament light chain (NfL) as a safety biomarker for neurotoxicity in spinal muscular atrophy Theil, D.
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475 P.141PPMO-mediated skipping therapy of duplicated exon 2 in the DMD gene Gushchina, L.
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476 P.279Pragmatic cognitive and psychosocial health monitoring in clinical practice in Duchenne muscular dystrophy Thangarajh, M.
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477 P.289Precise gene editing of LGMD2A causing mutations Muethel, S.
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478 P.214Presymptomatic spinal muscular atrophy: reality or myth? Lowes, L.
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479 P.249Protective pathways in the kidney of Gne M743T/M743T mutated knock in mice are related to muscle genes Benyamini, H.
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480 P.155Proteomic profiling in nemaline myopathy to identify molecular phenotypes Slick, R.
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481 P.100Pseudo-increment at repetitive nerve stimulation (Arzel's sign): a new tool for Brody myopathy diagnosis Masingue, M.
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482 P.390Pulmonary function in patients with Duchenne muscular dystrophy from the STRIDE registry and the CINRG natural history study: a matched cohort analysis Tulinius, M.
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483 P.23Quality of life outcomes in patients with congenital and childhood-onset myotonic dystrophy Kelder, A.
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484 P.33Quantified muscle testing: the right way to assess muscle strength impairments in DM1 Hébert, L.
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485 P.362RAINBOWFISH: A study of risdiplam (RG7916) in newborns with pre-symptomatic spinal muscular atrophy (SMA) Bertini, E.
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486 P.98RCT of 2mg bumetanide for hypokalaemic periodic paralysis Scalco, R.
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487 P.283Reading performance in relation to white matter network connectivity detected with MRI in Duchenne muscular dystrophy Lionarons, J.
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488 P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype Neuhaus, S.
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489 P.108Recessive MYH7-related myopathy in two families Beecroft, S.
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490 PRECLINICAL APPROACHES AND EARLY CLINICAL RESULTS Schoser, B.
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491 P.225Reducing the diagnosis time of neonatal screening by optimizing the screening process: the southern Belgian experience Dangouloff, T.
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492 P.282Relationship between verbal IQ and gene mutation in patients with Duchenne muscular dystrophy (longitudinal study) Arahata, H.
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493 P.30Reliability of balance, function, and muscle strength measures in myotonic dystrophy type 1 Knak, K.
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494 P.77Repurposing of metformin identified as a potential therapy in models of BAG3 myofibrillar myopathy Ruparelia, A.
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495 P.04Resistance exercises with blood flow restriction in patients with sporadic inclusion body myositis Liang, C.
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496 P.223Respiratory function in SMA type 2 and non-ambulant SMA type 3, longitudinal data from the international SMA consortium (iSMAc) Trucco, F.
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497 P.286Restoration of dystrophin at critical sites of expression following exon skipping Amthor, H.
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498 P.287Restoring expression of nebulin using CRISPR/CAS9 Gonorazky, H.
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499 P.166Retrospective longitudinal study of patients with NEB-related nemaline myopathy in the United Kingdom Brusa, C.
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500 P.117Rhabdomyolysis due to unaccustomed exercise: experiences from a multidisciplinary clinic Chatfield, S.
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501 P.317Rimeporide, a repositioned NHE-1 inhibitor for DMD: a preclinical trial in GRMD dogs Barthélémy, I.
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502 P.324RNAscope multiplex in situ hybridisation reveals unique patterns of dystrophin isoform expression in the developing mammalian foetus Hildyard, J.
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 29 S1 p. S161-S162
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503 P.140RNA-Seq shows an absence of off-target splicing effects in AAV9-U7snRNA mediated skipping of DMD exon 2 Flanigan, K.
 2019
 29 S1 p. S89
 artikel
504 P.56Role of NcoR1 and PGC-1 for mitochondrial dysfunction in skeletal muscle of ovariectomized mice Kim, Y.
 2019
 29 S1 p. S57
 artikel
505 P.44Safety and tolerability of losmapimod, a selective p38α/β MAPK inhibitor, for treatment of FSHD at its root cause Cadavid, D.
 2019
 29 S1 p. S54
 artikel
506 P.169Sarcoglycanopathies: experience of a tertiary centre Garrido, C.
 2019
 29 S1 p. S97-S98
 artikel
507 P.78Sarcomeric pathology induced by homozygous expression of the myofibrillar myopathy - associated p.W2711X filamin C mutant Schuld, J.
 2019
 29 S1 p. S63
 artikel
508 P.227Secondary clinical outcomes of spinal surgery and satisfaction in patients with spinal muscular atrophy (SMA) II and non-ambulant III Brusa, C.
 2019
 29 S1 p. S133
 artikel
509 P.55Sensory ataxic neuropathy with dysarthria and ophthalmoparesis: seven case reports Karasoy, H.
 2019
 29 S1 p. S57
 artikel
510 P.273Serum neurofilament light chain in type 1 spinal muscular atrophy: 30 months data from first part of a branaplam phase II study Peters, T.
 2019
 29 S1 p. S147
 artikel
511 P.274Serum neurofilament light chain in type 1 spinal muscular atrophy: second part of a branaplam phase II study Peters, T.
 2019
 29 S1 p. S147
 artikel
512 P.07Severe axial and pelvifemoral muscle damage in immune-mediated necrotizing myopathy evaluated by whole-body MRI Landon-Cardinal, O.
 2019
 29 S1 p. S43
 artikel
513 P.384Single cell RNA-seq unravels the molecular pathomechanism for collagen VI-related disorders in murine model Noguchi, S.
 2019
 29 S1 p. S193-S194
 artikel
514 P.104Skeletal muscle reduction of Dnm2 with antisense oligonucleotides in myotubular myopathy Buono, S.
 2019
 29 S1 p. S78-S79
 artikel
515 P.93Small fiber neuropathy underlying autoinflammatory syndromes in children Shinkarevsy, I.
 2019
 29 S1 p. S68
 artikel
516 P.392SMArtCARE - Real-world-data collection of patients with spinal muscular atrophy Pechmann, A.
 2019
 29 S1 p. S196
 artikel
517 P.216SMN genes molecular testing in a cohort of 1546 subjects tested for genetic diagnosis and trial enrollment Margutti, A.
 2019
 29 S1 p. S129-S130
 artikel
518 P.395Spanish Pompe registry: baseline characteristics of first 49 patients with adult onset of Pompe disease Alonso-Perez, J.
 2019
 29 S1 p. S197
 artikel
519 P.368Spinraza treatment decreases the hospitalization of ventilated SMA patients Acsadi, G.
 2019
 29 S1 p. S188-S189
 artikel
520 P.315Src tyrosine kinase as a drug target in Duchenne muscular dystrophy: a proof-of-concept study in the exercised mdx mouse Sanarica, F.
 2019
 29 S1 p. S159
 artikel
521 P.126SRK-015, a fully human monoclonal antibody inhibiting myostatin activation, offers sustained target engagement across multiple species, including humans Kalra, A.
 2019
 29 S1 p. S85
 artikel
522 P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome Gomez Garcia de la Banda, M.
 2019
 29 S1 p. S141
 artikel
523 P.26Strength training in myotonic dystrophy type 1: a promising therapeutic strategy Hébert, L.
 2019
 29 S1 p. S49
 artikel
524 P.224Supportive thoraco-lumbar-sacral orthosis (TLSO) provision for spinal muscular atrophy (SMA) type 1 children treated with nusinersen Abbott, L.
 2019
 29 S1 p. S132
 artikel
525 P.31Survey of the actual state of medical care of patients with myotonic dystrophy in Japan Matsumura, T.
 2019
 29 S1 p. S50
 artikel
526 P.66Symptomatology and prevalence of Pompe disease in patients with proximal muscle weakness and high CK levels Teodoro, J.
 2019
 29 S1 p. S60
 artikel
527 P.264SYROS study – long-term reduction in rate of respiratory function decline in patients with Duchenne muscular dystrophy treated with idebenone Servais, L.
 2019
 29 S1 p. S144
 artikel
528 P.27Targeted delivery of oligonucleotide therapeutics to muscle reduces toxic DMPK RNA Qatanani, M.
 2019
 29 S1 p. S49
 artikel
529 P.75Targeted population screening of late onset Pompe disease in unspecified myopathy patients with 8 neuromuscular centers in Korea Lee, J.
 2019
 29 S1 p. S62-S63
 artikel
530 P.43Targeting DUX4 expression, the root cause of FSHD: identification of a drug target and development candidate Wallace, O.
 2019
 29 S1 p. S53-S54
 artikel
531 P.359The beneficial effect of nusinersen on the breathing pattern of SMA type 1 children LoMauro, A.
 2019
 29 S1 p. S186
 artikel
532 P.254The clinical and genetic spectrum of a UK cohort of paediatric and adult patients with MYH7 gene related skeletal myopathies Pula, S.
 2019
 29 S1 p. S141
 artikel
533 P.188The clinical outcome study for dysferlinopathy: pregnancy in dysferlinopathy Moore, U.
 2019
 29 S1 p. S104
 artikel
534 P.185The clinical outcome study for dysferlinopathy: quantitative MRI and physiotherapy outcomes to capture disease progression James, M.
 2019
 29 S1 p. S103
 artikel
535 P.396The DM-Scope registry: an innovative framework for myotonic dystrophy translational resarch De Antonio, M.
 2019
 29 S1 p. S197
 artikel
536 P.238The Dubowitz neuromuscular centre experience in TTN gene analysis in UK patients with congenital myopathies Sarkozy, A.
 2019
 29 S1 p. S136
 artikel
537 P.71The emerging phenotype in long-term enzyme-treated classic infantile Pompe patients: severe distal muscle weakness van den Dorpel, J.
 2019
 29 S1 p. S61
 artikel
538 P.116The existence of the `Third Wind' phenomenon in McArdle disease Godfrey, R.
 2019
 29 S1 p. S82
 artikel
539 P.399The international spinal muscular atrophy (SMA) registry: longitudinal collection and refinement of outcome measures for spinal muscular atrophy Scoto, M.
 2019
 29 S1 p. S198
 artikel
540 P.192The 100 meter timed test: responsiveness to change, predicting loss of ambulation, and data-driven phenotypes Alfano, L.
 2019
 29 S1 p. S105
 artikel
541 P.59The mutations in mtDNA encoded NADH dehydrogenase subunit genes as common causes of MELAS Ji, K.
 2019
 29 S1 p. S58
 artikel
542 P.149The MYODA operational seamless clinical trial design phase I to III: a new approach for rare diseases to evaluate the safety, efficacy, pharmacokinetics, and pharmacodynamics of BIO101 (MAS activator) in paediatric patients with a genetically confirmed diagnosis of Duchenne muscular dystrophy Chabane, M.
 2019
 29 S1 p. S92
 artikel
543 P.193The neuromuscular gross motor outcome as an outcome measure in spinal muscular atrophy Alfano, L.
 2019
 29 S1 p. S105
 artikel
544 P.233The phenotypical spectrum associated with the recurrent RYR1 c.12861_ 12869dup9 (p.T4288_A4290dup) mutation Fernandez-Garcia, M.
 2019
 29 S1 p. S134
 artikel
545 P.239Therapy development for RYR1 related myopathies Onofre-Oliveira, P.
 2019
 29 S1 p. S136
 artikel
546 P.220The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA Ramsey, D.
 2019
 29 S1 p. S131
 artikel
547 P.48The role of Dnmt3b in DUX4 repression in transgenic mice Bouwman, L.
 2019
 29 S1 p. S55
 artikel
548 P.391The role of registry in care and treatment of rare disorders: Polish registry of SMA patients Lusakowska, A.
 2019
 29 S1 p. S195-S196
 artikel
549 P.160The spectrum of disease-causing and normal variation in the nebulin gene Lehtokari, V.
 2019
 29 S1 p. S95
 artikel
550 P.294The use of RNAseq in research and diagnostics of neuromuscular disorders Johari, M.
 2019
 29 S1 p. S152-S153
 artikel
551 P.358The value of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): improved survival, pulmonary and nutritional support, and motor function with decreased hospitalization Dabbous, O.
 2019
 29 S1 p. S186
 artikel
552 P.203Towards high-resolution clinical digital biomarkers for Duchenne muscular dystrophy Ricotti, V.
 2019
 29 S1 p. S108
 artikel
553 P.28Tracking cognitive changes in DM1 in a 5 year follow-up study Pinzan, E.
 2019
 29 S1 p. S49
 artikel
554 P.221Trajectories of disease progression in ambulant and non ambulant SMA: 12 month follow-up Mercuri, E.
 2019
 29 S1 p. S131
 artikel
555 P.49Translating DUX4-targeted RNAi-based gene therapy for FSHD Wallace, L.
 2019
 29 S1 p. S55
 artikel
556 P.354Treatment effects of nusinersen in longstanding adult 5q-SMA type 3 - a prospective observational study over 10 months Walter, M.
 2019
 29 S1 p. S185
 artikel
557 P.13Treatment experience of Taiwanese patients with anti-HMGCR myopathy Liang, W.
 2019
 29 S1 p. S45
 artikel
558 P.112Two murine models for tubular aggregate myopathy with mutations in Stim1 and Orai1 Ogasawara, M.
 2019
 29 S1 p. S81
 artikel
559 P.186Two patients with PURA syndrome in a large cohort of patients with unexplained muscle disease Mroczek, M.
 2019
 29 S1 p. S103
 artikel
560 P.357Type I spinal muscular atrophy patients treated with AVXS-101 have greater health outcome improvements and lower use of ventilatory support, hospitalization, and associated costs contrasted to those treated with nusinersen Arjunji, R.
 2019
 29 S1 p. S185-S186
 artikel
561 P.304Ultrafast simultaneous characterization of muscle inflammation and fatty replacement in inclusion body myositis with magnetic resonance fingerprinting (MRF) Marty, B.
 2019
 29 S1 p. S155-S156
 artikel
562 P.303Ultrashort-TE magnetic resonance imaging does not reveal alterations of short-T2-signal fraction in patients with congenital myopathies Araujo, E.
 2019
 29 S1 p. S155
 artikel
563 P.156Unusual respiratory pattern in children with NEB-related core-rod myopathy Aguerre, V.
 2019
 29 S1 p. S94
 artikel
564 P.165Update on functional studies of YBX3 variants associated with nemaline myopathy Sagath, L.
 2019
 29 S1 p. S96
 artikel
565 P.74Uptake of recombinant human GAA in a primary muscle cell differentiation system Limmer, S.
 2019
 29 S1 p. S62
 artikel
566 P.347Urinary titin fragment in Fukuyama congenital muscular dystrophy Sato, T.
 2019
 29 S1 p. S168-S169
 artikel
567 P.398Usefulness of R-Pact scale for the follow-up of patients with late-onset Pompe disease: results from the French Pompe registry Lefeuvre, C.
 2019
 29 S1 p. S198
 artikel
568 P.197Use of the D3-creatine dilution test as a non-invasive and accurate measurement of total body muscle mass in Duchenne muscular dystrophy Smith, E.
 2019
 29 S1 p. S106-S107
 artikel
569 P.218Utility based health related quality of life in children and adolescents with spinal muscular atrophy Love, D.
 2019
 29 S1 p. S130
 artikel
570 P.215Utility of functional outcomes in adults with spinal muscular atrophy Alfano, L.
 2019
 29 S1 p. S129
 artikel
571 P.09Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMGS) Allenbach, Y.
 2019
 29 S1 p. S44
 artikel
572 P.83Vacuolar myopathy with valosin containing protein (VCP)-positive intranuclear and cytoplasmic inclusions: report of two cases with early and late childhood-onset disease Phadke, R.
 2019
 29 S1 p. S65
 artikel
573 P.310Validating the use of deltaE50-MD dogs for modelling the cognitive, psychological and brain phenotype of Duchenne muscular dystrophy Crawford, A.
 2019
 29 S1 p. S157
 artikel
574 P.338Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function Clemens, P.
 2019
 29 S1 p. S166
 artikel
575 P.142Very low residual dystrophin levels mitigate dystrophinopathy towards Becker muscular dystrophy de Feraudy, Y.
 2019
 29 S1 p. S89
 artikel
576 P.340Viltolarsen, exon 53 skipping drug, in patients with Duchenne muscular dystrophy: additional analysis of Japanese phase I/II study Komaki, H.
 2019
 29 S1 p. S166-S167
 artikel
577 P.336Vision DMD: a phase IIb randomized, double-blind, parallel group, placebo- and active-controlled study to assess the efficacy and safety of vamorolone in boys with Duchenne muscular dystrophy Guglieri, M.
 2019
 29 S1 p. S165
 artikel
578 P.95Walking speed in Charcot-Marie-Tooth disease: a marker of disease progression during childhood and adolescence Acsadi, G.
 2019
 29 S1 p. S68
 artikel
579 P.298Will qNMRI-based FF trajectories help in the prediction of disease progression in Duchenne muscular dystrophy: a study in forearm muscle? Reyngoudt, H.
 2019
 29 S1 p. S154
 artikel
580 P.17Xenograft model of sporadic inclusion body myositis Britson, K.
 2019
 29 S1 p. S46
 artikel
581 REGISTRIES Servais, L.
 2019
 29 S1 p. S195
 artikel
582 SMA BIOMARKERS Awano, H.
 2019
 29 S1 p. S145-S146
 artikel
583 SMA TREATMENTS Carrera-García, L.
 2019
 29 S1 p. S183
 artikel
584 Table of location of abstract topics 2019 2019
 29 S1 p. S35-S36
 artikel
585 24th WMS Congress – 2019 - Programme 2019
 29 S1 p. S7-S34
 artikel
586 24th WMS Congress – 2019 - Programme (Summary) 2019
 29 S1 p. S4-S6
 artikel
587 Title 2019
 29 S1 p. S1
 artikel
588 Welcome Message WMS 2019 2019
 29 S1 p. S2-S3
 artikel
                             588 gevonden resultaten
 
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