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