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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
41
Publications avec texte intégral
Open Access
48 %
Mots clés
Humans
Experimental disease models
Chloride channel
Clinical trials
Cell Cycle Proteins/chemistry/genetics/metabolism
Male
CMS
Gene Expression Regulation
CLS
Aging
Cognitive decline
Jonction neuromusculaire
Database
Ca V
NMJ
Hereditary/genetics
Brain
MuSK
Lithium chloride
Cluster Analysis
Congenital myopathy
Treatment delay
Hypokalaemic periodic paralysis
Macrophages
Neuromuscular junction
Cercopithecus aethiops
COVID-19
Developmental
Amyotrophic lateral sclerosis
Synaptotagmin2
HEK293 Cells
Longitudinal progression
Neuromuscular disease
IL-22 binding protein isoform
Nondystrophic myotonias
Aged
Agrin
Deficiency
Animals
Receptors
Biological Markers
Amyotrophic Lateral Sclerosis/genetics
MUNIX
ALS HDAC motor neuron neuromuscular junction reinnervation
Butyrylcholinesterase
Knockout mouse
Motoneuron
Wnt
HSP70 Heat-Shock Proteins/genetics/metabolism
GFPT1
Cytokines
Acetylcholine receptor clustering
Actin cytoskeleton
Epidemiology
Cholinergic
Acetylcholinesterase
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Frontotemporal Dementia/genetics
Calcium channel
Jonction Neuromusculaire NMJ
Genetic Association Studies
Clinical trial
LRP4
Dimerization
Rare diseases
Precision medicine
Adult SMA
Multiple sclerosis
Awareness
Autoimmune
Expression
Frontotemporal lobar degeneration
Distal myopathy
Amyloid
Alzheimer's disease
MRC ¼ Medical Research Council
Conduction disease
Female
COS Cells
HypoPP ¼ hypokalaemic periodic paralysis
MBNL
Diseases
Actionable genes
Embryo
Myotonic Dystrophy
IL22RA2
Minigene
Congenital myasthenic syndrome
Paramyotonia congenita
Jonction neuro musculaire
Chemokines
Myotonia congenita
Mutation
Acetyltransferase
Body Patterning
80 and over
Heart failure
Congenital myasthenic syndromes
M3243AG
Drainage