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