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