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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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
Calcium channel
Adult SMA
Congenital myopathy
COVID-19
Cercopithecus aethiops
Distal myopathy
Hypokalaemic periodic paralysis
HypoPP ¼ hypokalaemic periodic paralysis
COS Cells
Frontotemporal Dementia/genetics
Paramyotonia congenita
Hereditary/genetics
Heart failure
Clinical trial
Aged
Knockout mouse
HSP70 Heat-Shock Proteins/genetics/metabolism
Mexiletine
CMS
Actin cytoskeleton
Amyloid
Nondystrophic myotonias
Cell Cycle Proteins/chemistry/genetics/metabolism
Amyotrophic Lateral Sclerosis/genetics
Motoneuron
Epidemiology
Alzheimer's disease
Frontotemporal lobar degeneration
Rare diseases
Cell-cell communication
Jonction Neuromusculaire NMJ
Neuromuscular disease
MBNL
Congenital myasthenic syndromes
Diseases
Neuromuscular junction
Receptors
Autoimmune
Congenital myasthenic syndrome
MuSK
Awareness
Acetyltransferase
Actionable genes
80 and over
Biological Markers
Minigene
Jonction neuro musculaire
Jonction neuromusculaire
Mutation
Body Patterning
Drainage
Conduction disease
Aging
IL-22 binding protein isoform
HEK293 Cells
Database
Expression
GFPT1
Multiple sclerosis
Embryo
Synaptotagmin2
Female
Ca V
Developmental
Brain
IL22RA2
Acetylcholinesterase
Cytokines
Wnt
M3243AG
ALS HDAC motor neuron neuromuscular junction reinnervation
Chloride channel
Amyotrophic lateral sclerosis
CLS
Cholinergic
Precision medicine
Cognitive decline
Agrin
Non-dystrophic myotonia
Butyrylcholinesterase
Myotonia congenita
Experimental disease models
Gene Expression Regulation
Chemokines
Humans
Myotonic Dystrophy
Acetylcholine receptor clustering
Disability
Clinical trials
LRP4
Genetic Association Studies
Lithium chloride
Deficiency
Animals
Cluster Analysis
Dimerization
Longitudinal progression
Treatment delay
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
NMJ