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