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