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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 with fulltext
Open Access
49 %
Mots clés
Awareness
Minigene
Precision medicine
Synaptotagmin2
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Myotonic Dystrophy
Drainage
Conduction disease
MuSK
Alzheimer's disease
Actin cytoskeleton
Aged
Deficiency
Paramyotonia congenita
Congenital myasthenic syndromes
NMJ
Receptors
Cell-cell communication
Jonction neuro musculaire
M3243AG
Nondystrophic myotonias
Neuromuscular disease
Calcium channel
Brain
ALS HDAC motor neuron neuromuscular junction reinnervation
Autoimmune
Lithium chloride
Aging
Embryo
Dimerization
GFPT1
IL-22 binding protein isoform
Cluster Analysis
Epidemiology
Hereditary/genetics
Body Patterning
Frontotemporal Dementia/genetics
Biological Markers
HEK293 Cells
Distal myopathy
Knockout mouse
Cognitive decline
Non-dystrophic myotonia
Heart failure
Cell Cycle Proteins/chemistry/genetics/metabolism
80 and over
HypoPP ¼ hypokalaemic periodic paralysis
CLS
LRP4
Female
Amyotrophic lateral sclerosis
CMS
Developmental
Expression
Mexiletine
Motoneuron
Jonction neuromusculaire
Adult SMA
Treatment delay
Congenital myasthenic syndrome
Myotonia congenita
Frontotemporal lobar degeneration
Animals
Genetic Association Studies
Cholinergic
Rare diseases
Neuromuscular junction
IL22RA2
Humans
Amyotrophic Lateral Sclerosis/genetics
Clinical trials
Wnt
COVID-19
MBNL
Disability
Butyrylcholinesterase
Cercopithecus aethiops
Gene Expression Regulation
Chemokines
Clinical trial
Congenital myopathy
HSP70 Heat-Shock Proteins/genetics/metabolism
Multiple sclerosis
Acetylcholinesterase
COS Cells
Experimental disease models
Amyloid
Mutation
Chloride channel
Acetylcholine receptor clustering
Longitudinal progression
Hypokalaemic periodic paralysis
Cytokines
Acetyltransferase
Actionable genes
Diseases
Jonction Neuromusculaire NMJ
Database
Agrin
Ca V