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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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
Chloride channel
Cercopithecus aethiops
Awareness
GFPT1
Heart failure
M3243AG
Autoimmune
Congenital myopathy
Distal myopathy
Agrin
Conduction disease
CMS
Diseases
Minigene
CLS
Motoneuron
Drainage
Experimental disease models
NMJ
Deficiency
IL-22 binding protein isoform
Congenital myasthenic syndromes
Frontotemporal lobar degeneration
Jonction Neuromusculaire NMJ
Jonction neuromusculaire
Synaptotagmin2
Cytokines
Butyrylcholinesterase
Nondystrophic myotonias
Congenital myasthenic syndrome
Expression
Cluster Analysis
Longitudinal progression
Cell-cell communication
Gene Expression Regulation
Mexiletine
Embryo
Amyotrophic Lateral Sclerosis/genetics
Chemokines
MBNL
Animals
Acetylcholinesterase
IL22RA2
Treatment delay
Adult SMA
Epidemiology
Myotonia congenita
Acetyltransferase
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Brain
Disability
Cognitive decline
Body Patterning
COVID-19
Amyotrophic lateral sclerosis
HEK293 Cells
Dimerization
Alzheimer's disease
Neuromuscular junction
Neuromuscular disease
Genetic Association Studies
HypoPP ¼ hypokalaemic periodic paralysis
Rare diseases
Actin cytoskeleton
Lithium chloride
Jonction neuro musculaire
Precision medicine
Ca V
Cell Cycle Proteins/chemistry/genetics/metabolism
Receptors
Humans
Biological Markers
Hypokalaemic periodic paralysis
Actionable genes
80 and over
Clinical trials
Myotonic Dystrophy
ALS HDAC motor neuron neuromuscular junction reinnervation
Acetylcholine receptor clustering
Aging
Wnt
Non-dystrophic myotonia
Developmental
Paramyotonia congenita
Amyloid
Multiple sclerosis
Hereditary/genetics
MuSK
HSP70 Heat-Shock Proteins/genetics/metabolism
Knockout mouse
Frontotemporal Dementia/genetics
Mutation
LRP4
Female
Cholinergic
COS Cells
Database
Calcium channel
Clinical trial
Aged