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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⟩
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Chiffres clés
41
Publications with fulltext
Open Access
48 %
Mots clés
Butyrylcholinesterase
LRP4
Actionable genes
Motoneuron
Rare diseases
Multiple sclerosis
Drainage
IL22RA2
Mexiletine
Autoimmune
Cluster Analysis
Amyloid
Humans
Jonction Neuromusculaire NMJ
Aging
Gene Expression Regulation
Experimental disease models
Jonction neuro musculaire
Congenital myasthenic syndrome
Minigene
Database
Adult SMA
Clinical trial
NMJ
Cognitive decline
Treatment delay
Embryo
Nondystrophic myotonias
Non-dystrophic myotonia
Amyotrophic lateral sclerosis
Neuromuscular disease
Conduction disease
Aged
M3243AG
IL-22 binding protein isoform
COS Cells
Alzheimer's disease
Expression
Acetylcholinesterase
Deficiency
ALS HDAC motor neuron neuromuscular junction reinnervation
Clinical trials
Cell Cycle Proteins/chemistry/genetics/metabolism
Disability
Congenital myopathy
Paramyotonia congenita
Dimerization
Cytokines
Brain
HSP70 Heat-Shock Proteins/genetics/metabolism
GFPT1
Receptors
Agrin
Myotonic Dystrophy
Biological Markers
Cercopithecus aethiops
Synaptotagmin2
Hereditary/genetics
Cholinergic
Wnt
Animals
MBNL
Distal myopathy
Frontotemporal Dementia/genetics
80 and over
Lithium chloride
Female
Developmental
Longitudinal progression
Jonction neuromusculaire
Awareness
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
CMS
Chemokines
Amyotrophic Lateral Sclerosis/genetics
Myotonia congenita
Actin cytoskeleton
Neuromuscular junction
HypoPP ¼ hypokalaemic periodic paralysis
COVID-19
Calcium channel
Precision medicine
Frontotemporal lobar degeneration
Congenital myasthenic syndromes
Epidemiology
MRC ¼ Medical Research Council
Heart failure
HEK293 Cells
Hypokalaemic periodic paralysis
Acetylcholine receptor clustering
CLS
Ca V
Body Patterning
Mutation
Diseases
Genetic Association Studies
Acetyltransferase
Knockout mouse
MuSK
Chloride channel