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