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