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