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