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