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