The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS. Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade.

Observing many researchers using the same data and hypothesis reveals a hidden universe of uncertainty.

This study explores how researchers' analytical choices affect the reliability of scientific findings. Most discussions of reliability problems in science focus on systematic biases. We broaden the lens to emphasize the idiosyncrasy of conscious and unconscious decisions that researchers make during data analysis.

Comparing the Effect of Product-Based Metrics on the Translation Process.

Characteristics of the translation product are often used in translation process research as predictors for cognitive load, and by extension translation difficulty. In the last decade, user-activity information such as eye-tracking data has been increasingly employed as an experimental tool for that purpose. In this paper, we take a similar approach.

Prognostic effect of epithelial cell adhesion molecule overexpression in untreated node-negative breast cancer.

Purpose: Epithelial cell adhesion molecule (Ep-CAM) recently received increased attention not only as a prognostic factor in breast cancer but also as a potential target for immunotherapy. We examined Ep-CAM expression in 402 consecutive node-negative breast cancer patients with long-term follow-up not treated in the adjuvant setting.

Experimental Design: Ep-CAM expression was evaluated by immunostaining.

A nitrergic projection from the superior olivary complex to the inferior colliculus of the rat.

The present study was conducted to test whether the ascending auditory projection from the superior olivary complex (SOC) of the brainstem to the inferior colliculus (IC) may use nitric oxide (NO) as a neuroactive compound. We identified olivo-collicular projection neurons in subnuclei of the SOC by retrograde neuronal tracing with Fluoro-Gold (FG) injected into the central nucleus of the IC. Sections containing retrograde labelled neurons were subjected to immunohistochemical incubation in an antiserum directed against the enzyme responsible for NO production in nerve cells, neuronal NO synthase (nNOS).

Evidence for increased nitric oxide production in the auditory brain stem of the aged dwarf hamster (Phodopus sungorus): an NADPH-diaphorase histochemical study.

Age-related changes of the auditory system such as presbyacusis are believed to be due, at least in part, to alterations of central structures. The superior olivary complex (SOC), a group of interrelated brain stem nuclei, projects to a variety of neuronal structures including the cochlea and the inferior colliculus (IC). The soluble gas nitric oxide (NO), believed to function as a neuroactive substance within the SOC and cochlea, is thought to be involved in ageing processes.

Evidence for an up-regulation of the host and a down-regulation of the fungal phosphofructokinase activity in ectomycorrhizas of Norway spruce and fly agaric.

For an understanding of metabolic interactions in ectomycorrhizal associations it is essential to distinguish enzyme activities of the symbionts. For the ATP-dependent phosphofructokinase (PFK) from ectomycorrhizas of fly agaric (Amanita muscaria (L. ex Fr.