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