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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
42
Publications avec texte intégral
Open Access
49 %
Mots clés
Heart failure
Autoimmune
Cluster Analysis
Awareness
MBNL
Gene Expression Regulation
NMJ
Amyloid
Actin cytoskeleton
Diseases
Butyrylcholinesterase
Cognitive decline
Acetylcholine receptor clustering
ALS HDAC motor neuron neuromuscular junction reinnervation
Knockout mouse
Congenital myasthenic syndromes
Cholinergic
Myotonic Dystrophy
COVID-19
Mutation
Epidemiology
Lithium chloride
IL-22 binding protein isoform
CMS
Clinical trials
Jonction Neuromusculaire NMJ
Genetic Association Studies
Calcium channel
Longitudinal progression
Cercopithecus aethiops
Disability
Jonction neuromusculaire
Precision medicine
GFPT1
Hereditary/genetics
Synaptotagmin2
Cell Cycle Proteins/chemistry/genetics/metabolism
Chloride channel
80 and over
Congenital myasthenic syndrome
Jonction neuro musculaire
IL22RA2
Dimerization
Myotonia congenita
Acetylcholinesterase
COS Cells
Drainage
Database
Neuromuscular disease
Body Patterning
Expression
CLS
Chemokines
Embryo
Alzheimer's disease
Motoneuron
Frontotemporal lobar degeneration
Neuromuscular junction
Treatment delay
Rare diseases
Deficiency
Conduction disease
Amyotrophic Lateral Sclerosis/genetics
LRP4
Nondystrophic myotonias
Amyotrophic lateral sclerosis
Congenital myopathy
Brain
MuSK
HEK293 Cells
Humans
Ca V
Receptors
Distal myopathy
Actionable genes
Clinical trial
Minigene
Aged
Wnt
Multiple sclerosis
Paramyotonia congenita
Experimental disease models
Adult SMA
Biological Markers
Cytokines
Cell-cell communication
HypoPP ¼ hypokalaemic periodic paralysis
Aging
Mexiletine
Developmental
Female
Hypokalaemic periodic paralysis
Animals
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Acetyltransferase
Agrin
Non-dystrophic myotonia
Frontotemporal Dementia/genetics
HSP70 Heat-Shock Proteins/genetics/metabolism
M3243AG