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