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