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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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
Heart failure
MuSK
Acetyltransferase
Hereditary/genetics
Animals
Neuromuscular disease
Actin cytoskeleton
Frontotemporal Dementia/genetics
Expression
Synaptotagmin2
HEK293 Cells
Agrin
Humans
Experimental disease models
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Deficiency
Paramyotonia congenita
Body Patterning
Adult SMA
COS Cells
ALS HDAC motor neuron neuromuscular junction reinnervation
IL22RA2
Minigene
Embryo
Developmental
Nondystrophic myotonias
Awareness
Autoimmune
Distal myopathy
Cytokines
Knockout mouse
Amyloid
Cell-cell communication
Treatment delay
Drainage
CLS
Butyrylcholinesterase
Jonction neuro musculaire
Diseases
Female
Clinical trials
M3243AG
Amyotrophic Lateral Sclerosis/genetics
Cercopithecus aethiops
Aged
COVID-19
Aging
Cell Cycle Proteins/chemistry/genetics/metabolism
Mexiletine
CMS
Actionable genes
Chemokines
Amyotrophic lateral sclerosis
Jonction neuromusculaire
Myotonia congenita
Epidemiology
MBNL
HypoPP ¼ hypokalaemic periodic paralysis
Non-dystrophic myotonia
Chloride channel
Wnt
Alzheimer's disease
Acetylcholine receptor clustering
Congenital myopathy
Frontotemporal lobar degeneration
Cholinergic
Receptors
Genetic Association Studies
Gene Expression Regulation
Precision medicine
Ca V
HSP70 Heat-Shock Proteins/genetics/metabolism
Cluster Analysis
80 and over
Neuromuscular junction
Motoneuron
LRP4
Disability
Myotonic Dystrophy
Congenital myasthenic syndrome
Calcium channel
Jonction Neuromusculaire NMJ
Hypokalaemic periodic paralysis
Conduction disease
IL-22 binding protein isoform
Mutation
Acetylcholinesterase
Cognitive decline
Clinical trial
Congenital myasthenic syndromes
Multiple sclerosis
Dimerization
Biological Markers
Longitudinal progression
Brain
NMJ
Rare diseases
Lithium chloride
GFPT1
Database