Results 251 to 260 of about 552,137 (300)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Neural Markers of Interocular Grouping During Binocular Rivalry With MEG. [PDF]

open access: yesHum Brain Mapp
Mokri E   +3 more
europepmc   +1 more source

Climate variability reduces biomass stability in species-rich grasslands, depending on management. [PDF]

open access: yesOecologia
Herion Y   +12 more
europepmc   +1 more source

Relative contribution of driving pressure and respiratory rate to mortality in ARDS depends on age. [PDF]

open access: yesAm J Respir Crit Care Med
Papoutsi E   +4 more
europepmc   +1 more source

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