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