Results 141 to 150 of about 409,388 (257)
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
openaire +1 more source
Analysis of the disease burden and attributable risk factors of tuberculosis in G20 countries from 1990 to 2021. [PDF]
Kou Y +6 more
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
Estimating the burden of adult diabetes in China: a systematic review and meta-analysis with attributable risk assessment. [PDF]
Wang R +8 more
europepmc +1 more source
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato +7 more
wiley +1 more source
Burden of environmental heat and cold exposure and its attributable risk factors in 204 countries and territories (1990-2021). [PDF]
Xie Z, Huang Z, Luo W, Du W.
europepmc +1 more source
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis +77 more
wiley +1 more source
Evolving landscape of female cancers along with attributable risk factors in China from 1990 to 2021, and projections to 2040. [PDF]
Han Y +5 more
europepmc +1 more source

