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Dernières publications
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Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, et al.. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome. Scientific Reports, 2023, 13 (1), pp.14054. ⟨10.1038/s41598-023-41008-5⟩. ⟨hal-04191765⟩
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Myriam Boëx, Steve Cottin, Marius Halliez, Stéphanie Bauché, Céline Buon, et al.. The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK. Science Signaling, 2022, 15 (734), pp.eabg4982. ⟨10.1126/scisignal.abg4982⟩. ⟨inserm-03768653⟩
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Chiffres clés
41
Publications avec texte intégral
Open Access
48 %
Mots clés
MBNL
Jonction neuro musculaire
IL-22 binding protein isoform
Cercopithecus aethiops
Acetylcholinesterase
Congenital myopathy
Clinical trial
Cognitive decline
HEK293 Cells
Chemokines
Wnt
CMS
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
80 and over
Brain
Amyotrophic Lateral Sclerosis/genetics
Female
Drainage
Myotonia congenita
Gene Expression Regulation
Neuromuscular disease
LRP4
Frontotemporal Dementia/genetics
Precision medicine
Mexiletine
Diseases
Autoimmune
Awareness
Motoneuron
Knockout mouse
Aged
Heart failure
Cytokines
ALS HDAC motor neuron neuromuscular junction reinnervation
Actin cytoskeleton
CLS
Lithium chloride
Hypokalaemic periodic paralysis
Aging
Neuromuscular junction
Congenital myasthenic syndromes
Dimerization
Developmental
Genetic Association Studies
Cell Cycle Proteins/chemistry/genetics/metabolism
HSP70 Heat-Shock Proteins/genetics/metabolism
Hereditary/genetics
Nondystrophic myotonias
Minigene
Calcium channel
Cholinergic
Acetylcholine receptor clustering
Conduction disease
COS Cells
NMJ
Database
IL22RA2
Chloride channel
Amyotrophic lateral sclerosis
COVID-19
Embryo
Humans
Disability
Mutation
Frontotemporal lobar degeneration
Longitudinal progression
Animals
Jonction Neuromusculaire NMJ
Body Patterning
Biological Markers
Multiple sclerosis
Myotonic Dystrophy
Jonction neuromusculaire
Deficiency
Agrin
Actionable genes
Cluster Analysis
Congenital myasthenic syndrome
MRC ¼ Medical Research Council
Alzheimer's disease
Treatment delay
Adult SMA
Paramyotonia congenita
Distal myopathy
Synaptotagmin2
Non-dystrophic myotonia
Epidemiology
Butyrylcholinesterase
GFPT1
Rare diseases
Clinical trials
M3243AG
Ca V
Experimental disease models
Receptors
HypoPP ¼ hypokalaemic periodic paralysis
Amyloid
Expression
MuSK
Acetyltransferase