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