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