Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Sharing conspiracy theories and staying in power: How leaders' false theories influence leadership perception. [PDF]
Cao S, van Prooijen JW, van Vugt M.
europepmc +1 more source
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Variable high-contrast all-optical self-switching of femtosecond solitonic pulses in multi-dual-core optical fiber with distributed optical asymmetry. [PDF]
Winkowski M +5 more
europepmc +1 more source
Neural Markers of Interocular Grouping During Binocular Rivalry With MEG. [PDF]
Mokri E +3 more
europepmc +1 more source
Climate variability reduces biomass stability in species-rich grasslands, depending on management. [PDF]
Herion Y +12 more
europepmc +1 more source
Is It About Hierarchy? An Evolutionary Account of the Burnout-Depression Overlap. [PDF]
Garcia HA, Reiss JJ.
europepmc +1 more source
Relative contribution of driving pressure and respiratory rate to mortality in ARDS depends on age. [PDF]
Papoutsi E +4 more
europepmc +1 more source
Spatiotemporal CD8<sup>+</sup> T-Cell Dynamics: Clonal Replacement and Expansion as Determinants of Sustainable Antitumor Response. [PDF]
Ueha S +4 more
europepmc +1 more source

