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