Results 251 to 260 of about 693,260 (339)

Midlife Steroid‐Binding Globulin Levels and In Vivo Neuroimaging Measures of Tau in Older Men and Women

open access: yesAnnals of Neurology, EarlyView.
Objective In men and women, sex steroid hormones have been associated with increased risk of Alzheimer's disease (AD) dementia. We aimed to investigate the influence of midlife testosterone and sex hormone binding globulin (SHBG) levels on later‐life in vivo markers of β‐amyloid (Aβ) and tau deposition in clinically healthy older men. Methods This time‐
Rachel F. Buckley   +16 more
wiley   +1 more source

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl   +6 more
wiley   +1 more source

Epilepsy and psychosis: navigating through a complex intersection. [PDF]

open access: yesBJPsych Open
Mula M   +5 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

open access: yesAnnals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel   +10 more
wiley   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

open access: yesAnnals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker   +79 more
wiley   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer   +52 more
wiley   +1 more source

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