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