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A second patient had clinical evidence of a length dependent sensorimotor axonal neuropathy, greater in the lower limbs, assessed 1 year before referral, while two other patients also had some evidence of a similar sensory motor neuropathy on limited assessment.
Motor evoked potentials performed in two patients with compound heterozygous mutations showed electrophysiological evidence of a length dependent degenerative process affecting corticospinal tracts axons projecting to the lower limb motor neurons (Fig. 2), as classically described in hereditary spastic paraplegia (Lang et al., 2011).
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This gives an unbiased measure of the expression level but also affects the variance of the data in a length dependent manner resulting in the same bias to differential expression estimation (see methods for a toy example).
Second, the expression level of the genes is affected by the type of the core promoter in a length dependent manner: long genes generally display lower levels of expression compared to short genes.
The flux of kinesins toward the plus-ends depends on the overall length of the MT and contributes to a length-dependent depolymerization rate [ 175].
The third term in Eq. 1 represents a pure viscous force, and it is a product of a length-dependent viscosity (3 DOF) and the speed of elongation.
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders with the cardinal feature of a length-dependent axonopathy of corticospinal motor neurons. 1 Historically, they have been classified as either pure or complex based on the absence or presence, respectively, of associated signs and symptoms.
The rapid increase in contraction occurs as a result of a length-dependent increase in cross-bridge formation and myofilament Ca2+ sensitivity whereas the slow rise in force that follows is associated with an increase in the amplitude of the intracellular Ca2+ transients [2].
Quantification of nerve fibers revealed two types of peripheral neurodegeneration in PD: (1) a length-dependent reduction of intraepidermal small nerve fibers (p < 0.05) and (2) a severe non-length-dependent reduction of substance P-immunoreactive intraepidermal nerve fibers (p < 0.0001).
However, RNA-Seq suffers from an intrinsic bias that affects the quantification of transcript expression in a length-dependent manner.
This ψδ VNTR was found to be highly polymorphic in terms of its length and acted as a length-dependent negative regulator of gene expression, its length serving to influence the degree of α-thalassaemia observed in an α-thalassaemia/mental retardation syndrome patient.
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