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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
43
Publications avec texte intégral
Open Access
49 %
Mots clés
MuSK
Genetic Association Studies
Body Patterning
NMJ
Cholinergic
Non-dystrophic myotonia
Alzheimer's disease
GFPT1
Cell Cycle Proteins/chemistry/genetics/metabolism
Acetylcholine receptor clustering
Brain
Synaptotagmin2
Agrin
Motoneuron
Myotonic Dystrophy
Butyrylcholinesterase
Amyotrophic lateral sclerosis
Cell-cell communication
HEK293 Cells
COS Cells
Awareness
HypoPP ¼ hypokalaemic periodic paralysis
LRP4
Autoimmune
Adult SMA
Hereditary/genetics
Jonction neuro musculaire
Amyloid
Longitudinal progression
Gene Expression Regulation
Ca V
Jonction neuromusculaire
Frontotemporal Dementia/genetics
Disability
Cytokines
Aged
Precision medicine
Multiple sclerosis
Embryo
Distal myopathy
Experimental disease models
Actionable genes
IL22RA2
Myotonia congenita
Neuromuscular junction
Treatment delay
Congenital myasthenic syndromes
Jonction Neuromusculaire NMJ
Calcium channel
Chemokines
Clinical trials
Drainage
Epidemiology
CLS
Conduction disease
Heart failure
Mutation
Acetyltransferase
Cluster Analysis
Expression
Paramyotonia congenita
Congenital myopathy
Knockout mouse
Animals
Wnt
ALS HDAC motor neuron neuromuscular junction reinnervation
Mexiletine
80 and over
Developmental
Dimerization
CMS
Female
HSP70 Heat-Shock Proteins/genetics/metabolism
Receptors
Aging
MBNL
Humans
IL-22 binding protein isoform
Biological Markers
Clinical trial
Congenital myasthenic syndrome
Chloride channel
Nondystrophic myotonias
Neuromuscular disease
Lithium chloride
Cercopithecus aethiops
Deficiency
Rare diseases
M3243AG
Amyotrophic Lateral Sclerosis/genetics
Database
Diseases
Frontotemporal lobar degeneration
Acetylcholinesterase
COVID-19
Cognitive decline
Minigene
Hypokalaemic periodic paralysis
Actin cytoskeleton
Gating pore current Abbreviations CMAP ¼ compound muscle action potential