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An adult with Sandhoff disease presented with pure lower motor neuron phenotype.
As a quantitative description of neuron morphology, the digital representation has been widely applied in the tasks of modern neuroscience studies [1, 2, 3] such as characterizing and classifying neuron phenotype or modeling and simulating electrophysiology behavior of neurons.
Moreover, NICD overexpression suppressed the increased mauthner neuron phenotype in gmds morphants (Fig. S7).
Clinically, all four cases presented with a phenotype consistent with a lower motor neuron phenotype of ALS.
The deep tendon reflexes were normal and plantar responses were flexor, consistent with a pure lower motor neuron phenotype.
The D-type neuron phenotype of L1 stage animals were quantified 10 hours later after lysing the adult heterozygous mutants, using alkaline hypochlorite.
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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].
It was therefore hypothesized that altered BDNF may contribute to the hdMO1 sensory neuron phenotypes described in this paper.
Importantly, migration and dendritic abnormalities that we have described here are consistent with cortical neuron phenotypes reported due to manipulation of semaphorin and CRMP signaling.
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.
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