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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
42
Publications avec texte intégral
Open Access
49 %
Mots clés
Female
Embryo
Neuromuscular disease
Deficiency
CLS
Dimerization
Rare diseases
GFPT1
Epidemiology
Frontotemporal Dementia/genetics
Jonction neuromusculaire
COVID-19
Amyloid
Minigene
Acetylcholinesterase
Diseases
COS Cells
80 and over
Multiple sclerosis
Treatment delay
Congenital myasthenic syndromes
Cell Cycle Proteins/chemistry/genetics/metabolism
NMJ
M3243AG
Amyotrophic lateral sclerosis
Hereditary/genetics
Cercopithecus aethiops
Alzheimer's disease
Clinical trials
Congenital myasthenic syndrome
Motoneuron
HEK293 Cells
Autoimmune
Drainage
Precision medicine
Agrin
Animals
Brain
Genetic Association Studies
Actionable genes
Nondystrophic myotonias
Actin cytoskeleton
Hypokalaemic periodic paralysis
Myotonic Dystrophy
Experimental disease models
Congenital myopathy
Acetylcholine receptor clustering
Lithium chloride
Distal myopathy
Database
Neuromuscular junction
Cytokines
LRP4
Aging
Knockout mouse
IL22RA2
Synaptotagmin2
Cognitive decline
Clinical trial
CMS
ALS HDAC motor neuron neuromuscular junction reinnervation
Paramyotonia congenita
Cluster Analysis
Frontotemporal lobar degeneration
Myotonia congenita
Chloride channel
Aged
Jonction Neuromusculaire NMJ
Humans
IL-22 binding protein isoform
Non-dystrophic myotonia
Disability
Chemokines
Conduction disease
HypoPP ¼ hypokalaemic periodic paralysis
Biological Markers
MuSK
Body Patterning
Heart failure
MBNL
Wnt
Acetyltransferase
Amyotrophic Lateral Sclerosis/genetics
Expression
Ca V
Cell-cell communication
Mexiletine
Adult SMA
Longitudinal progression
Awareness
Butyrylcholinesterase
Developmental
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
HSP70 Heat-Shock Proteins/genetics/metabolism
Calcium channel
Receptors
Gene Expression Regulation
Cholinergic
Mutation
Jonction neuro musculaire