Axel Neu

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Publications (23)

• Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.
  Bone 2017 DOI: 10.1016/j.bone.2017.06.025
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• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
  American journal of human genetics 2016 DOI: 10.1016/j.ajhg.2016.06.029
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• Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice.
  Amino acids 2016 DOI: 10.1007/s00726-016-2202-7
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• Treatment during a vulnerable developmental period rescues a genetic epilepsy.
  Nature medicine 2015 DOI: 10.1038/nm.3987
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• Homoarginine supplementation improves blood glucose in diet-induced obese mice.
  Amino acids 2015 DOI: 10.1007/s00726-015-2022-1
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• Differential regulation of AMPK activation in leptin- and creatine-deficient mice.
  The FASEB Journal 2013 DOI: 10.1096/fj.12-225136
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• L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
  Human molecular genetics 2013 DOI: 10.1093/hmg/dds407
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• A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
  Human mutation 2010 DOI: 10.1002/humu.21302
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• Postsynaptic origin of CB1-dependent tonic inhibition of GABA release at cholecystokinin-positive basket cell to pyramidal cell synapses in the CA1 region of the rat hippocampus.
  The Journal of physiology 2007 DOI: 10.1113/jphysiol.2006.115691
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• Prevention of plasticity of endocannabinoid signaling inhibits persistent limbic hyperexcitability caused by developmental seizures.
  The Journal of neuroscience : the official journal of the Society for Neuroscience 2007 DOI: 10.1523/jneurosci.3966-06.2007
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