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