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