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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
41
Publications avec texte intégral
Open Access
Mots clés
Animals
HypoPP ¼ hypokalaemic periodic paralysis
CLS
Awareness
Synaptotagmin2
LRP4
GFPT1
Clinical trials
Receptors
Mutation
Heart failure
Butyrylcholinesterase
Myotonia congenita
Experimental disease models
Jonction neuro musculaire
Longitudinal progression
MBNL
Drainage
Frontotemporal Dementia/genetics
Ca V
Motoneuron
Acetylcholinesterase
Actionable genes
Developmental
Neuromuscular disease
Paramyotonia congenita
Distal myopathy
Chemokines
Amyotrophic Lateral Sclerosis/genetics
Deficiency
HEK293 Cells
Amyotrophic lateral sclerosis
Acetylcholine receptor clustering
Chloride channel
Rare diseases
Calcium channel
Wnt
Cell Cycle Proteins/chemistry/genetics/metabolism
Cluster Analysis
Female
IL22RA2
Congenital myopathy
Cercopithecus aethiops
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
M3243AG
ALS HDAC motor neuron neuromuscular junction reinnervation
Hypokalaemic periodic paralysis
Hereditary/genetics
Body Patterning
Jonction Neuromusculaire NMJ
Adult SMA
Macrophages
Autoimmune
Myotonic Dystrophy
Frontotemporal lobar degeneration
COS Cells
Aging
Clinical trial
Precision medicine
Actin cytoskeleton
Cholinergic
Jonction neuromusculaire
Cytokines
Diseases
Expression
COVID-19
Amyloid
Alzheimer's disease
Acetyltransferase
Biological Markers
Lithium chloride
Neuromuscular junction
MuSK
Multiple sclerosis
Knockout mouse
Nondystrophic myotonias
Congenital myasthenic syndromes
Embryo
NMJ
Genetic Association Studies
Gene Expression Regulation
80 and over
IL-22 binding protein isoform
Aged
Dimerization
Male
MRC ¼ Medical Research Council
Epidemiology
Agrin
CMS
Minigene
Cognitive decline
Brain
Congenital myasthenic syndrome
Humans
Database
Treatment delay
MUNIX
HSP70 Heat-Shock Proteins/genetics/metabolism
Conduction disease