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