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