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