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