Results 241 to 250 of about 1,634,918 (305)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals 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

The m6Am methyltransferase PCIF1 promotes osteogenic differentiation of mesenchymal stem cells through stabilization of Wnt-related transcripts. [PDF]

open access: yesPLoS Biol
Song W   +13 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

open access: yesAnnals 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

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin   +11 more
wiley   +1 more source

Preclinical activity of brincidofovir in peripheral T-cell and NK/T-cell lymphoma. [PDF]

open access: yesBMC Med
Chan JY   +18 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung   +7 more
wiley   +1 more source

LDB1 represses fetal hemoglobin expression by enhancing BCL11A transcription. [PDF]

open access: yesRedox Biol
Park SW   +9 more
europepmc   +1 more source

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