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Apart from an ALS cluster in South Dakota reported by Kilness and Hochberg [ 7], there is epidemiologic evidence from China suggesting that high levels of exposure to environmental Se deleteriously affect motor neuron function in humans [ 9, 24].
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Mutations in five genes have so far been identified in patients with KS, but they account for only ∼30% of clinical cases (Hardelin and Dode, 2008), implying that additional, unknown genes regulate GnRH neuron development and function in humans.
Taken together, these results indicate that parkin loss of function in humans correlates with elevated RTP801, in both fibroblasts and nigral neurons.
Finally, the generation of Δ3 4-hiPS derived-neurons allow the study of MECP2 function in human neurons and for disease phenotyping which has traditionally been difficult due to lack of human brain tissues from RTT patients for research purposes.
‡Known function in humans.
In summary, to study the role of PINK1 in PD, we have generated models of PINK1 loss of function in human and mouse neurons.
In order to investigate the role of PINK1 in Parkinson's disease, we studied PINK1 loss of function in human and primary mouse neurons.
"The message here is that we really need time to get human neuron function," says Stoppini.
Mirror neurons are themselves a young area of neurological research: neuroscientists do not yet agree on the nature, function or behaviour of mirror neurons in humans (see here for an overview).
This is therefore likely due to a toxic gain of function of mutant SOD1 presumably modelling that which causes motor neuron death in human ALS cases.
Neural networks are motivated by neurons in humans and other animals, but do not function like biological neurons.
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