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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⟩
Chiffres clés
41
Publications with fulltext
Open Access
48 %
Mots clés
NMJ
Neuromuscular disease
Receptors
LRP4
Disability
Multiple sclerosis
Epidemiology
Expression
Cytokines
Diseases
Rare diseases
Gene Expression Regulation
Chloride channel
Hereditary/genetics
Precision medicine
Longitudinal progression
Knockout mouse
Clinical trials
Deficiency
M3243AG
Clinical trial
MuSK
Heart failure
Amyotrophic Lateral Sclerosis/genetics
Humans
Female
Lithium chloride
Mexiletine
Embryo
IL22RA2
Adult SMA
Butyrylcholinesterase
Experimental disease models
Cercopithecus aethiops
Calcium channel
HEK293 Cells
Amyloid
Congenital myasthenic syndrome
GFPT1
Non-dystrophic myotonia
Acetylcholinesterase
Congenital myopathy
Jonction neuromusculaire
CLS
Cholinergic
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
MBNL
Acetyltransferase
Developmental
Autoimmune
Wnt
Jonction neuro musculaire
Agrin
Awareness
Cell Cycle Proteins/chemistry/genetics/metabolism
Database
Jonction Neuromusculaire NMJ
Dimerization
HSP70 Heat-Shock Proteins/genetics/metabolism
Treatment delay
Neuromuscular junction
Mutation
80 and over
Nondystrophic myotonias
Minigene
Chemokines
COS Cells
Myotonia congenita
HypoPP ¼ hypokalaemic periodic paralysis
Cluster Analysis
Conduction disease
Genetic Association Studies
Synaptotagmin2
ALS HDAC motor neuron neuromuscular junction reinnervation
Ca V
Brain
Acetylcholine receptor clustering
Drainage
MRC ¼ Medical Research Council
Biological Markers
Animals
IL-22 binding protein isoform
Actionable genes
Actin cytoskeleton
CMS
Myotonic Dystrophy
Amyotrophic lateral sclerosis
Motoneuron
Aging
Alzheimer's disease
Cognitive decline
Frontotemporal Dementia/genetics
Hypokalaemic periodic paralysis
Distal myopathy
Congenital myasthenic syndromes
Body Patterning
COVID-19
Aged
Frontotemporal lobar degeneration
Paramyotonia congenita