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