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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
41
Publications with fulltext
Open Access
48 %
Mots clés
Butyrylcholinesterase
Distal myopathy
Disability
Myotonic Dystrophy
Acetyltransferase
Developmental
CMS
Hypokalaemic periodic paralysis
Humans
Non-dystrophic myotonia
Neuromuscular junction
Mexiletine
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Dimerization
Multiple sclerosis
Cytokines
Hereditary/genetics
Cholinergic
Chloride channel
Jonction neuro musculaire
Frontotemporal lobar degeneration
Cognitive decline
Jonction neuromusculaire
Synaptotagmin2
Gene Expression Regulation
Cell Cycle Proteins/chemistry/genetics/metabolism
Chemokines
LRP4
Calcium channel
Expression
Jonction Neuromusculaire NMJ
Lithium chloride
COS Cells
80 and over
Neuromuscular disease
Awareness
Clinical trials
Congenital myasthenic syndromes
Amyotrophic Lateral Sclerosis/genetics
Diseases
Actionable genes
Wnt
HEK293 Cells
Agrin
Treatment delay
Experimental disease models
Actin cytoskeleton
Database
GFPT1
Minigene
Cercopithecus aethiops
MRC ¼ Medical Research Council
Clinical trial
Myotonia congenita
Mutation
MuSK
Ca V
Female
Animals
Amyloid
Acetylcholinesterase
Longitudinal progression
Deficiency
Amyotrophic lateral sclerosis
MBNL
Body Patterning
Nondystrophic myotonias
Precision medicine
Aged
Drainage
IL22RA2
Acetylcholine receptor clustering
Paramyotonia congenita
Rare diseases
HSP70 Heat-Shock Proteins/genetics/metabolism
Alzheimer's disease
Epidemiology
Biological Markers
Motoneuron
Autoimmune
COVID-19
Embryo
CLS
Frontotemporal Dementia/genetics
HypoPP ¼ hypokalaemic periodic paralysis
Congenital myopathy
Brain
Heart failure
ALS HDAC motor neuron neuromuscular junction reinnervation
Cluster Analysis
Aging
Congenital myasthenic syndrome
M3243AG
IL-22 binding protein isoform
Conduction disease
NMJ
Adult SMA
Receptors
Knockout mouse
Genetic Association Studies