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