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