Results 41 to 50 of about 16,133,838 (218)

Subtle Cerebellar Features in Relatives of Essential Tremor Cases

open access: yesFrontiers in Neurology, 2020
Background: Essential tremor (ET) cases often exhibit a range of mild cerebellar signs. Their unaffected relatives have been shown in prior studies to exhibit subtle (i.e., preclinical) disease features.Objective: To quantify subtle cerebellar signs in ...
Evan A. Hale   +8 more
doaj   +1 more source

Revealing a brain network endophenotype in families with idiopathic generalised epilepsy.

open access: yesPLoS ONE, 2014
Idiopathic generalised epilepsy (IGE) has a genetic basis. The mechanism of seizure expression is not fully known, but is assumed to involve large-scale brain networks. We hypothesised that abnormal brain network properties would be detected using EEG in
Fahmida A Chowdhury   +6 more
doaj   +1 more source

Familial Aggregation of High Tumor Necrosis Factor Alpha Levels in Systemic Lupus Erythematosus

open access: yesClinical and Developmental Immunology, 2013
Systemic lupus erythematosus (SLE) patients frequently have high circulating tumor necrosis factor alpha (TNF-α) levels. We explored circulating TNF-α levels in SLE families to determine whether high levels of TNF-α were clustered in a heritable pattern.
Dorothy Mangale   +8 more
doaj   +1 more source

Altered Effective Connectivity within an Oculomotor Control Network in Unaffected Relatives of Individuals with Schizophrenia

open access: yesBrain Sciences, 2021
The ability to rapidly stop or change a planned action is a critical cognitive process that is impaired in schizophrenia. The current study aimed to examine whether this impairment reflects familial vulnerability to schizophrenia across two experiments ...
Matthew Lehet   +6 more
doaj   +1 more source

Impaired cognitive flexibility and motor inhibition in unaffected first-degree relatives of patients with obsessive-compulsive disorder

open access: yes, 2007
Objective: Obsessive-compulsive disorder (OCD) is highly heritable. Attempts to delineate precise genetic contributions have met with limited success.
Blackwell, Andrew D.   +6 more
core   +1 more source

A review of prostate-specific antigen screening prevalence and risk perceptions for first-degree relatives of men with prostate cancer

open access: yes, 2009
First-degree relatives of men with prostate cancer have a higher risk of being diagnosed with prostate cancer than men without a family history. The present review examines the prevalence and predictors of testing in first-degree relatives, perceptions ...
P.D. BAADE   +19 more
core   +1 more source

Polygenic risk for obsessive-compulsive disorder (OCD) predicts brain response during working memory task in OCD, unaffected relatives, and healthy controls

open access: yesScientific Reports, 2021
Alterations in frontal and parietal neural activations during working memory task performance have been suggested as a candidate endophenotype of obsessive-compulsive disorder (OCD) in studies involving first-degree relatives.
Stephan Heinzel   +10 more
doaj   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

open access: yesFEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança   +2 more
wiley   +1 more source

Distinct Associations of Motor Domains in Relatives of Schizophrenia Patients—Different Pathways to Motor Abnormalities in Schizophrenia?

open access: yesFrontiers in Psychiatry, 2018
IntroductionAberrant motor function is an integral part of schizophrenia. In fact, abnormalities are frequently found in patients, in populations at risk, and in unaffected relatives.
Lea Schäppi   +3 more
doaj   +1 more source

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

open access: yesFEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge   +6 more
wiley   +1 more source

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