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