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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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
Nondystrophic myotonias
Butyrylcholinesterase
Dimerization
Rare diseases
IL-22 binding protein isoform
HypoPP ¼ hypokalaemic periodic paralysis
CMS
Mexiletine
Cell-cell communication
Frontotemporal lobar degeneration
Amyotrophic Lateral Sclerosis/genetics
Wnt
Aged
Cercopithecus aethiops
Cluster Analysis
Conduction disease
Agrin
COVID-19
Cell Cycle Proteins/chemistry/genetics/metabolism
Aging
Ca V
Chemokines
Longitudinal progression
Calcium channel
Humans
NMJ
Distal myopathy
Cytokines
Cognitive decline
Drainage
Diseases
Frontotemporal Dementia/genetics
Female
Paramyotonia congenita
HEK293 Cells
Acetylcholinesterase
Amyloid
Cholinergic
Clinical trials
Non-dystrophic myotonia
CLS
Amyotrophic lateral sclerosis
Actionable genes
Congenital myasthenic syndrome
Myotonia congenita
Autoimmune
Alzheimer's disease
Treatment delay
Neuromuscular disease
Congenital myasthenic syndromes
Disability
Myotonic Dystrophy
Brain
Multiple sclerosis
COS Cells
Motoneuron
Genetic Association Studies
Minigene
Jonction neuromusculaire
Embryo
Expression
Clinical trial
Deficiency
M3243AG
Gene Expression Regulation
HSP70 Heat-Shock Proteins/genetics/metabolism
Acetyltransferase
80 and over
MuSK
Developmental
ALS HDAC motor neuron neuromuscular junction reinnervation
Experimental disease models
Congenital myopathy
IL22RA2
Precision medicine
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Hereditary/genetics
Jonction neuro musculaire
Hypokalaemic periodic paralysis
Lithium chloride
Body Patterning
Heart failure
Chloride channel
Epidemiology
Neuromuscular junction
MBNL
Mutation
Database
Awareness
LRP4
Jonction Neuromusculaire NMJ
Biological Markers
Receptors
Actin cytoskeleton
GFPT1
Adult SMA
Knockout mouse
Acetylcholine receptor clustering
Animals
Synaptotagmin2