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
45
Publications avec texte intégral
Open Access
49 %
Mots clés
Nondystrophic myotonias
Database
CLS
Hereditary/genetics
Minigene
Body Patterning
Epidemiology
Gene Expression Regulation
Biological Markers
COVID-19
Embryo
80 and over
Myotonic Dystrophy
COS Cells
Alzheimer's disease
Autoimmune
MBNL
HSP70 Heat-Shock Proteins/genetics/metabolism
Neuromuscular disease
NMJ
Experimental disease models
Aging
Actionable genes
Acetylcholine receptor clustering
Cluster Analysis
Chemokines
Longitudinal progression
Brain
Gating pore current Abbreviations CMAP ¼ compound muscle action potential
Butyrylcholinesterase
Distal myopathy
Ca V
Rare diseases
Clinical trial
ALS HDAC motor neuron neuromuscular junction reinnervation
Jonction neuro musculaire
Congenital myasthenic syndromes
Congenital myasthenic syndrome
Deficiency
LRP4
IL-22 binding protein isoform
Acetyltransferase
Drainage
Amyotrophic lateral sclerosis
Conduction disease
Cholinergic
Developmental
Myotonia congenita
Diseases
Neuromuscular junction
Awareness
Aged
Motoneuron
Jonction Neuromusculaire NMJ
IL22RA2
CMS
Synaptotagmin2
Amyloid
Female
Dimerization
Cell-cell communication
Lithium chloride
Chloride channel
Disability
HypoPP ¼ hypokalaemic periodic paralysis
Expression
Heart failure
Actin cytoskeleton
Animals
Calcium channel
Non-dystrophic myotonia
HEK293 Cells
Cercopithecus aethiops
Humans
Treatment delay
Genetic Association Studies
Paramyotonia congenita
Jonction neuromusculaire
Agrin
Mexiletine
M3243AG
Clinical trials
Wnt
Receptors
Knockout mouse
Frontotemporal Dementia/genetics
Multiple sclerosis
Cognitive decline
Amyotrophic Lateral Sclerosis/genetics
Adult SMA
Acetylcholinesterase
Congenital myopathy
MuSK
Mutation
Cell Cycle Proteins/chemistry/genetics/metabolism
GFPT1
Cytokines
Precision medicine
Frontotemporal lobar degeneration
Hypokalaemic periodic paralysis