Newborn screening for SMA in Southern Belgium
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.02.003
Clinical spectrum of neuromuscular complications after immune checkpoint inhibition
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.11.012
MYO-MRI diagnostic protocols in genetic myopathies
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.08.011
Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.02.002
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.01.010
The nature of respiratory muscle weakness in patients with late-onset Pompe disease
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.011
Report of a novel ATP7A mutation causing distal motor neuropathy
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.08.008
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.10.002
Autologous hematopoietic stem cell transplantation in a patient with refractory seropositive myasthenia gravis: A case report
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.11.008
A review of the histopathological findings in myasthenia gravis: Clues to the pathogenesis of treatment-resistance in extraocular muscles
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.009
Polyradiculoneuropathy in dourine-affected horses
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.005
Fukuyama Congenital Muscular Dystrophy
来源期刊:Neuromuscular DisordersDOI:10.1016/J.NMD.2019.06.457
Sleep-disordered breathing and effects of non-invasive ventilation on objective sleep and nocturnal respiration in patients with myotonic dystrophy type I
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.02.006
Are novel outcome measures for Charcot–Marie–Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.01.009
Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.001
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
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.514
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.12.008
Stopping oral steroid-sparing agents at initiation of rituximab in myasthenia gravis
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.002
Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlap
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.10.007
Dropped head syndrome as a manifestation of Charcot–Marie–Tooth disease type 4C
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.11.010
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.02.007
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.011
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.005
Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature review
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.10.003
Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.05.006
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.09.001
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.09.008
236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1–3 June 2018
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.01.002
Muscle fiber dysfunction contributes to weakness in inclusion body myositis
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.001
First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features,
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.01.006
EP.88Development of clinical trial simulation tool for Duchenne muscular dystrophy through the Duchenne Regulatory Science Consortium
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.494
Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.04.001
GNE myopathy – A cross-sectional study on spatio-temporal gait characteristics
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.11.003
Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.003
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.12.001
Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.08.013
Membrane recruitment of nNOSµ in microdystrophin gene transfer to enhance durability
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.08.009
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.012
Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.09.009
240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.07.003
P.43Targeting DUX4 expression, the root cause of FSHD: identification of a drug target and development candidate
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.072
P.44Safety and tolerability of losmapimod, a selective p38α/β MAPK inhibitor, for treatment of FSHD at its root cause
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.073
P.173Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.06.228
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.05.008
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.03.010
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2018.11.007
A novel case of inclusion body myositis and myasthenia gravis
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.09.004
Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.08.006
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.08.003
Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment
来源期刊:Neuromuscular DisordersDOI:10.1016/j.nmd.2019.10.007