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20,285 results
  • Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression. [Case Reports]
    Am J Med Genet A 2019Napolitano F, Terracciano C, … Sampaolo S
  • Dominant Optic Atrophy and Deafness (DOAD) may be associated with one or more of the following disorders such as myopathy, progressive external ophthalmoplegia, peripheral neuropathy, and cerebellar atrophy ("DOA-plus"). Intra- and interfamilial variability of the "DOA-plus" phenotype is frequently observed in the majority of the patients carrying the same mutation in the OPA1 gene. We are descri…
  • Lipid membranes influence the ability of small molecules to inhibit huntingtin fibrillization. [Journal Article]
    Biochemistry 2019Beasley M, Stonebraker A, … Legleiter J
  • Several diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease (HD), are associated with specific proteins aggregating and depositing within tissues and/or cellular compartments. The aggregation of these proteins is characterized by the formation of extended, β-sheet rich fibrils, referred to as amyloid. In addition, a variety of other aggregate species also form, …
  • PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice. [Journal Article]
    Front Neurosci 2019; 13:993Janzen E, Wolff L, … Wirth B
  • Many neurodegenerative disorders share common pathogenic pathways such as endocytic defects, Ca2+ misregulation and defects in actin dynamics. Factors acting on these shared pathways are highly interesting as a therapeutic target. Plastin 3 (PLS3), a proven protective modifier of spinal muscular atrophy across species, is a remarkable example of the former, and thereby offers high potential as a …
  • A negative screening of rare genetic variants in the ADIPOQ and STATH genes in cystic fibrosis. [Journal Article]
    Pulmonology 2019Coutinho CAAC, Marson FAL, … Bertuzzo CS
  • CONCLUSIONS: Considering the negative screening for rare genetic variants in ADIPOQ and STATH genes, it may be concluded that these genes are not associated with phenotypic modulation of CF in our population. To understand the modifier genes and its action at CF variability it is essential to promote a better overview of the disease. Also, negative reports can help to direct new studies without the use of unnecessary financial support.
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