SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Molecular diffusion analysis of dynamic blood flow and plasma separation driven by self-powered microfluidic devices. [PDF]
Biomicrofluidics, 2021 Woo SO +4 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Revealing atomic-scale molecular diffusion of a plant-transcription factor WRKY domain protein along DNA. [PDF]
Proc Natl Acad Sci U S A, 2021 Dai L, Xu Y, Du Z, Su XD, Yu J.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Shorter Alkyl Chains Enhance Molecular Diffusion and Electron Transfer Kinetics between Photosensitisers and Catalysts in CO2 -Reducing Photocatalytic Liposomes. [PDF]
Chemistry, 2021 Klein DM +9 more
europepmc +1 more source
Diffusion in nanocrystalline solids [PDF]
, 2005 Enhanced atomic migration was an early observation from experimental studies into nanocrystalline solids. This contribution presents an overview of the available diffusion data for simple metals and ionic materials in nanocrystalline form.
Chadwick, Alan V.
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Reaction-Diffusion in Co2Si/Zn Diffusion Couple
Periodic layered structures were examined in the Co₂Si/Zn diffusion couple annealed at 390 °C. SEM, TEM, EPMA, and XRD analyses revealed alternating Co–Si–rich and Zn–rich layers composed of CoSi, γ₁, and γ₂ phases with cell-to-cell variations in ...
Cserháti, Csaba +4 more
core +1 more source
Analysis of the Biochemical Reaction Status by Real-Time Monitoring Molecular Diffusion Behaviors Using a Transistor Biosensor Integrated with a Microfluidic Channel. [PDF]
ACS Omega, 2021 Lai YH, Lim JC, Lee YC, Huang JJ.
europepmc +1 more source