Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Multi-dendrite fragmentation dynamics in acoustic flow with oscillating cavitation bubbles revealed in situ by synchrotron X-ray radiography. [PDF]
Ultrason SonochemWang S +7 more
europepmc +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
High-Resolution Electrospray and Ion Mobility Sequential Mass Spectrometry for Structural Characterisation of Anticancer Stem Cell Agent Salinomycin and Its Isomers. [PDF]
MoleculesJiang C, Gates PJ.
europepmc +1 more source
Fragmentation in International Human Rights Law – Beyond Conflict of International Courts in a State of Nature: Foreword [PDF]
, 2015 Andreas Føllesdal
openalex
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
A comparison of sperm parameters DNA fragmentation and telomere length in testicular versus ejaculated spermatozoa. [PDF]
Sci RepAfsari M +5 more
europepmc +1 more source