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