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An adult with Sandhoff disease presented with pure lower motor neuron phenotype.
The deep tendon reflexes were normal and plantar responses were flexor, consistent with a pure lower motor neuron phenotype.
Clinically, all four cases presented with a phenotype consistent with a lower motor neuron phenotype of ALS.
Olig2 Cre/+;Fz3 CKO/− embryos recapitulate the motor neuron phenotype of Fz3 −/− embryos.
As shown in Fig. 5, most motor neurons developed from pnpla6 MO cells in the chimeric embryos exhibited axon defects, resembling the motor neuron phenotype of pnpla6 morphants.
A histone acetyltransferase inhibitor, referred to as anacardic acid, was reported to rescue the abnormal ALS motor neuron phenotype through the inhibition of TDP-43 protein expression [ 16].
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In this study we aimed to address this link by establishing whether overexpression of mutant TDP-43 or knock-down of progranulin in zebrafish embryos results in motor neuron phenotypes and whether human progranulin is neuroprotective against such phenotypes.
In this light it is interesting that knockdown of OPTN results in motor neuron phenotypes in zebrafish [ 110].
Since Fz3 is widely expressed in the developing CNS, why are the motor neuron phenotypes restricted to a subset of motor axons?
Strikingly, in addition to rescuing the muscle atrophy and motor neuron phenotypes, loss of one copy of Nlk extended the lifespan of the BAC fxAR121 +/− mice.
If this mechanism would be solely responsible for ALS pathogenesis, gene knockdown or knockout is expected to result in strong motor neuron phenotypes.
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motor neuron recruitment
motor neuron death
motor neuron gene
motor neuron physiology
motor axon phenotype
motor neuron population
motor neuron regeneration
motor coordination phenotype
motor neuron development
motor neuron degeneration
motor neuron identity
motor neuron architecture
motor disturbance phenotype
motor neuron selectivity
motor dysfunction phenotype
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