Mutations in the subunits of the nicotinic acetylcholine receptor (AChR) of the neuromuscular junction (NMJ) can lead to changes of receptor properties, like effects on ligand binding and/or channel opening. The resulting changes of the endplate potentials can lead to congenital myasthenic syndromes (CMS), referred to as Slow-Channel or Fast-Channel Congenital Myasthenic Syndrome (SCCMS or FCCMS) respectively. In this work two lines of transgenic knock-in mice were established. In the first mouse line (g/eFC) the influence of the activity of the AChR on the establishment of the NMJ was examined. In these animals the g-subunit, that is expressed during embryogenesis, carries a point mutation, which provokes an amino acid exchange (P121L) and...
Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due t...
Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular ...
AbstractWe describe the genetic and kinetic defects in a congenital myasthenic syndrome caused by he...
Mutations in the subunits of the nicotinic acetylcholine receptor (AChR) of the neuromuscular juncti...
We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mu...
The nicotinic acetylcholine receptor (AChR) is a heteropentameric, ligand−gated ion channel at the n...
The two subtypes of mammalian muscle nicotinic acetylcholine receptors (AChR) are generated by the s...
During embryonic development, acetylcholine (ACh) and the acetylcholine receptor (AChR) play a pivot...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
AbstractIn five members of a family and another unrelated person affected by a slow-channel congenit...
In mammalian muscle a postnatal switch in functional properties of neuromuscular transmission occurs...
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (N...
In the slow channel congenital myasthenic syndrome mutations in genes encoding the muscle acetylchol...
International audienceThe collagen ColQ anchors acetylcholinesterase (AChE) in the synaptic cleft of...
Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due t...
Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular ...
AbstractWe describe the genetic and kinetic defects in a congenital myasthenic syndrome caused by he...
Mutations in the subunits of the nicotinic acetylcholine receptor (AChR) of the neuromuscular juncti...
We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mu...
The nicotinic acetylcholine receptor (AChR) is a heteropentameric, ligand−gated ion channel at the n...
The two subtypes of mammalian muscle nicotinic acetylcholine receptors (AChR) are generated by the s...
During embryonic development, acetylcholine (ACh) and the acetylcholine receptor (AChR) play a pivot...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromusc...
AbstractIn five members of a family and another unrelated person affected by a slow-channel congenit...
In mammalian muscle a postnatal switch in functional properties of neuromuscular transmission occurs...
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (N...
In the slow channel congenital myasthenic syndrome mutations in genes encoding the muscle acetylchol...
International audienceThe collagen ColQ anchors acetylcholinesterase (AChE) in the synaptic cleft of...
Congenital myasthenic syndromes (CMS) result from the failure to achieve muscle depolarisation due t...
Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular ...
AbstractWe describe the genetic and kinetic defects in a congenital myasthenic syndrome caused by he...