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