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