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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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
CLS
COVID-19
Diseases
Chloride channel
IL22RA2
Cell-cell communication
Clinical trial
Neuromuscular junction
Drainage
Awareness
Aged
Embryo
Actin cytoskeleton
Dimerization
Expression
Mexiletine
Wnt
Cognitive decline
Female
Jonction neuro musculaire
Multiple sclerosis
Adult SMA
Biological Markers
Hereditary/genetics
Amyloid
Chemokines
Humans
Acetyltransferase
Frontotemporal Dementia/genetics
Congenital myasthenic syndrome
Cholinergic
Congenital myasthenic syndromes
Treatment delay
Gene Expression Regulation
LRP4
Body Patterning
HSP70 Heat-Shock Proteins/genetics/metabolism
Motoneuron
Receptors
Knockout mouse
NMJ
GFPT1
Cercopithecus aethiops
Actionable genes
Aging
Database
Calcium channel
Butyrylcholinesterase
Cytokines
Cluster Analysis
Longitudinal progression
Lithium chloride
Hypokalaemic periodic paralysis
Agrin
80 and over
Jonction neuromusculaire
COS Cells
Jonction Neuromusculaire NMJ
Heart failure
Rare diseases
Non-dystrophic myotonia
Genetic Association Studies
Precision medicine
Congenital myopathy
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
MuSK
M3243AG
Neuromuscular disease
Alzheimer's disease
Animals
Amyotrophic lateral sclerosis
Experimental disease models
Myotonia congenita
CMS
Conduction disease
Amyotrophic Lateral Sclerosis/genetics
Clinical trials
Acetylcholinesterase
ALS HDAC motor neuron neuromuscular junction reinnervation
Cell Cycle Proteins/chemistry/genetics/metabolism
Brain
Ca V
MBNL
HypoPP ¼ hypokalaemic periodic paralysis
Nondystrophic myotonias
Paramyotonia congenita
Mutation
Disability
Frontotemporal lobar degeneration
Acetylcholine receptor clustering
Autoimmune
Epidemiology
HEK293 Cells
Deficiency
Developmental
Minigene
Distal myopathy
IL-22 binding protein isoform
Myotonic Dystrophy
Synaptotagmin2