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