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