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