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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
48 %
Mots clés
Cell Cycle Proteins/chemistry/genetics/metabolism
Awareness
MBNL
MRC ¼ Medical Research Council
Receptors
IL22RA2
GFPT1
Mutation
Male
Agrin
Ca V
Amyotrophic lateral sclerosis
Acetylcholinesterase
Humans
Congenital myopathy
Aging
Congenital myasthenic syndrome
Biological Markers
Heart failure
Acetylcholine receptor clustering
Chloride channel
Gene Expression Regulation
Longitudinal progression
NMJ
Multiple sclerosis
Paramyotonia congenita
Dimerization
Female
Hereditary/genetics
Acetyltransferase
Drainage
Clinical trial
Conduction disease
Amyloid
Chemokines
Autoimmune
Brain
Jonction neuro musculaire
Clinical trials
COS Cells
Actin cytoskeleton
Motoneuron
Hypokalaemic periodic paralysis
80 and over
Nondystrophic myotonias
Frontotemporal Dementia/genetics
Cluster Analysis
Epidemiology
Cytokines
Myotonia congenita
Myotonic Dystrophy
Animals
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Amyotrophic Lateral Sclerosis/genetics
Congenital myasthenic syndromes
Deficiency
Synaptotagmin2
Body Patterning
Wnt
M3243AG
Rare diseases
Neuromuscular junction
Embryo
Knockout mouse
IL-22 binding protein isoform
ALS HDAC motor neuron neuromuscular junction reinnervation
Lithium chloride
Treatment delay
Diseases
HypoPP ¼ hypokalaemic periodic paralysis
Aged
Frontotemporal lobar degeneration
Cholinergic
CMS
Cognitive decline
Minigene
Jonction Neuromusculaire NMJ
Developmental
Cercopithecus aethiops
Precision medicine
Jonction neuromusculaire
Genetic Association Studies
Calcium channel
Experimental disease models
Neuromuscular disease
COVID-19
Distal myopathy
Actionable genes
Alzheimer's disease
Database
LRP4
Butyrylcholinesterase
Expression
HSP70 Heat-Shock Proteins/genetics/metabolism
MUNIX
HEK293 Cells
Macrophages
CLS
MuSK
Adult SMA