What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington’s Disease
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Genetic Counseling"
DOI: 10.1007/s10897-018-0257-1
Abstract: Little is known about how people’s lives are influenced when going from a 50% risk status of Huntington’s disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to… read more here.
Keywords: term; long term; huntington disease; non carriers ... See more keywords
Event-related potential changes due to early-onset Parkinson’s disease in parkin (PARK2) gene mutation carriers and non-carriers
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Neurophysiology"
DOI: 10.1016/j.clinph.2020.02.030
Abstract: OBJECTIVE To investigate cognitive functions in non-demented patients with early-onset Parkinson's disease (PD), and to compare PARK2 gene mutation carriers and non-carriers by means of event-related brain potentials (ERPs). METHODS The participants comprised patients with… read more here.
Keywords: park2 gene; early onset; non carriers; eopd ... See more keywords
Composition of the intestinal microbiota in extended-spectrum β-lactamase-producing Enterobacteriaceae carriers and non-carriers in Thailand.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of antimicrobial agents"
DOI: 10.1016/j.ijantimicag.2018.12.006
Abstract: There is increasing recognition that the intestinal microbiota govern human well-being and prevent diseases. Intestinal colonization by antibiotic-resistant pathogens, however, can lead to the spread of resistance as well as serious infections. Extended-spectrum β-lactamase-producing Enterobacteriaceae… read more here.
Keywords: esbl; spectrum lactamase; intestinal microbiota; non carriers ... See more keywords
Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study
Sign Up to like & getrecommendations! Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(20)30137-x
Abstract: BACKGROUND Neurofilament light chain (NfL) is a promising biomarker of active axonal injury and neuronal degeneration. We aimed to characterise cross-sectional and longitudinal plasma NfL measurements and determine the age at which NfL concentrations begin… read more here.
Keywords: cross sectional; sectional longitudinal; age; alzheimer disease ... See more keywords
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Psychiatry"
DOI: 10.1038/s41380-020-0838-x
Abstract: Blood biomarkers have great potential to advance clinical care and accelerate trials in Alzheimer’s disease (AD). Plasma phospho-tau181 (p-tau181) is a promising blood biomarker however, it is unknown if levels increase in presymptomatic AD. Therefore,… read more here.
Keywords: plasma; tau181; alzheimer disease; non carriers ... See more keywords
A-05 The Latin American Spanish Version of the Face-Name Associative Memory Exam is Sensitive to Cognitive and Pathological Changes in Preclinical Autosomal Dominant Alzheimer’s Disease
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Clinical Neuropsychology"
DOI: 10.1093/arclin/acaa067.05
Abstract: To determine whether performance on the Latin American Spanish version of the Face-Name Associative Memory Exam (LAS-FNAME) can differentiate between cognitively intact carriers of an autosomal dominant Alzheimer’s disease mutation (E280A) in Presenilin-1, who are… read more here.
Keywords: american spanish; tau; las fname; disease ... See more keywords
A-04 The Relationship of ApoE Status and Cognition in Non-demented Older Adults
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Clinical Neuropsychology"
DOI: 10.1093/arclin/acaa068.04
Abstract: Apolipoprotein (ApoE)-e4 is well established as a genetic risk factor for Alzheimer’s disease (AD) as well as a predictor for the rate of cognitive decline in AD. Among older adults without dementia, some research has… read more here.
Keywords: non carriers; non demented; older adults; status cognition ... See more keywords
144 Proof of concept for bilateral twin pregnancies in Trio allele carriers
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Animal Science"
DOI: 10.1093/jas/skaa278.216
Abstract: Bovine twin birth is associated with detriments including increased embryo/fetal losses, malpresentation and dystocia. Incidence of these is lessened in bilateral versus unilateral twin pregnancy. This study was undertaken to assess use of follicular ablation… read more here.
Keywords: bilateral twin; non carriers; twin pregnancies; post tai ... See more keywords
Parkinson's disease GWAS-linked Park16 variant is associated with a lower risk of cognitive impairment: a 4-year observational study.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of neurology"
DOI: 10.1111/ene.15893
Abstract: BACKGROUND Genome wide association study (GWAS)-linked variant (Park16 rs6679073) modulates the risk of Parkinson's disease (PD). We postulate that there may be differences in clinical characteristics between Park16 rs6679073 carriers and non-carriers. AIM In a… read more here.
Keywords: year; park16 rs6679073; parkinson disease; gwas linked ... See more keywords
BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.
Sign Up to like & getrecommendations! Published in 2023 at "Histopathology"
DOI: 10.1111/his.14906
Abstract: AIM To catalogue and compare the pattern of metastatic disease in germline BRCA1/2 pathogenic mutation carriers and non-carriers with breast, ovarian and prostate cancer from a rapid autopsy programme. METHODS AND RESULTS The number of… read more here.
Keywords: brca1; pattern metastatic; disease; compared non ... See more keywords
Neuroanatomical underpinnings of autism symptomatology in carriers and non-carriers of the 22q11.2 microdeletion
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Autism"
DOI: 10.1186/s13229-020-00356-z
Abstract: Background A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to… read more here.
Keywords: symptomatology; 22q11 2ds; autism; non carriers ... See more keywords