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