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