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