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