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