Intensive scientific research devoted in the recent years to understand the molecular mechanisms
or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new pathways …

… The hypothesis that the mutations may disrupt specialized function(s) of AFG3L2 gains … that
the mutation(s) affecting this functional domain hamper the release of processed substrate(s), …

Objective Autosomal recessive pathogenic variants of the SLC13A5 gene are associated
with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We …

… 5 Should we apply Hicks’ well-known definition that “a person’s income is what he can
consume during the week and still expect to be as well off at the end of the week as he was at the …

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most
frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 …

… 1B), while in the other we could not extend the analysis to the proband’s family. For the …
profile of the variant within the proband’s family. Both variants were classified as VUS (class 3). …

Small firms encounter difficulties in collecting external finance due to greater information
problems. For small innovative firms, whose activity is more difficult to evaluate, the cost of …

… The primary endpoint of this study was to evaluate the impact of Md on IBD patients’s
nutritional status, presence and severity of liver steatosis, response to therapy, and QoL. …

… All tumors were processed immediately after resection by enzymatic digestion, using human
Tumor Dissociation Kit (Miltenyi Biotec) and following manufacturer’s instructions for soft …

… MtAA16A-containing fractions were loaded on a Resource S column (30 × 16 mm internal
diameter, GE Healthcare) pre-equilibrated with 10 mM sodium acetate buffer pH 3.8 (eluent A)…