Loading...
Dernières publications
-
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⟩
-
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
43
Publications avec texte intégral
Open Access
49 %
Mots clés
Butyrylcholinesterase
Congenital myopathy
Mexiletine
Alzheimer's disease
Gene Expression Regulation
Precision medicine
COS Cells
Myotonic Dystrophy
Agrin
Minigene
Congenital myasthenic syndrome
Deficiency
Nondystrophic myotonias
Jonction Neuromusculaire NMJ
LRP4
Receptors
Chloride channel
MBNL
Myotonia congenita
Knockout mouse
Multiple sclerosis
Amyotrophic lateral sclerosis
Wnt
Non-dystrophic myotonia
Amyloid
Acetyltransferase
Acetylcholinesterase
Distal myopathy
Mutation
Treatment delay
COVID-19
GFPT1
IL-22 binding protein isoform
HSP70 Heat-Shock Proteins/genetics/metabolism
Expression
80 and over
Embryo
Frontotemporal lobar degeneration
Genetic Association Studies
Amyotrophic Lateral Sclerosis/genetics
Cell Cycle Proteins/chemistry/genetics/metabolism
Hypokalaemic periodic paralysis
HypoPP ¼ hypokalaemic periodic paralysis
Humans
Female
Disability
Neuromuscular junction
Autoimmune
Chemokines
Animals
Cognitive decline
Clinical trial
HEK293 Cells
Awareness
Drainage
Acetylcholine receptor clustering
Cluster Analysis
Biological Markers
Neuromuscular disease
Conduction disease
Experimental disease models
Developmental
Calcium channel
Aging
CMS
Epidemiology
Actionable genes
Cercopithecus aethiops
Synaptotagmin2
Dimerization
Heart failure
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Brain
Jonction neuromusculaire
IL22RA2
Actin cytoskeleton
MuSK
M3243AG
Jonction neuro musculaire
Cell-cell communication
ALS HDAC motor neuron neuromuscular junction reinnervation
Aged
Adult SMA
NMJ
Body Patterning
Longitudinal progression
Database
Motoneuron
Congenital myasthenic syndromes
Rare diseases
Cholinergic
Cytokines
Ca V
Clinical trials
Hereditary/genetics
Lithium chloride
Diseases
CLS
Frontotemporal Dementia/genetics
Paramyotonia congenita