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