Screening exon 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease
Early-onset Alzheimer’s disease (EOAD) can be familial (FAD) or sporadic (sEOAD); both have a disease onset ≤ 65 years of age. 451 sEOAD samples were screened for known causative mutations in exon 16 and 17 of the Amyloid Precursor Protein gene (APP). Four samples were shown to be heterozygous for...
| Main Authors: | Barber, Imelda S., García-Cárdenas, Jennyfer M., Sakdapanichkul, Chidchanok, Deacon, Christopher, Zapata Erazo, Gabriela, Guerreiro, Rita, Bras, Jose, Hernandez, Dena, Singleton, Andrew, Guetta-Baranes, Tamar, Braae, Anne, Clement, Naomi, Patel, Tulsi, Brookes, Keeley, Medway, Christopher, Chappell, Sally, Mann, David M., Morgan, Kevin |
|---|---|
| Format: | Article |
| Published: |
Elsevier
2016
|
| Subjects: | |
| Online Access: | https://eprints.nottingham.ac.uk/46889/ |
Similar Items
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer’s disease
by: Barber, Imelda S., et al.
Published: (2016)
by: Barber, Imelda S., et al.
Published: (2016)
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
by: Barber, Imelda S., et al.
Published: (2017)
by: Barber, Imelda S., et al.
Published: (2017)
Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease
by: Boden, Kirsty A., et al.
Published: (2017)
by: Boden, Kirsty A., et al.
Published: (2017)
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease
by: Chaudhary, Sultan, et al.
Published: (2018)
by: Chaudhary, Sultan, et al.
Published: (2018)
Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33
by: Clement, Naomi, et al.
Published: (2016)
by: Clement, Naomi, et al.
Published: (2016)
Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease
by: Patel, Tulsi, et al.
Published: (2017)
by: Patel, Tulsi, et al.
Published: (2017)
Influence of coding variability in APP-Aß metabolism genes in sporadic Alzheimer's disease
by: Sassi, C., et al.
Published: (2016)
by: Sassi, C., et al.
Published: (2016)
Trunk muscle onset detection technique for EMG signals with ECG artefact.
by: Allison, Garry
Published: (2003)
by: Allison, Garry
Published: (2003)
Symptoms of myocardial infarction: Concordance between paramedic and hospital records
by: Coventry, Linda, et al.
Published: (2014)
by: Coventry, Linda, et al.
Published: (2014)
A qualitative study of Internet use comparing the experiences of people with physical disabilities and early onset dementia
by: Young, Alexandra L.
Published: (2020)
by: Young, Alexandra L.
Published: (2020)
Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease
by: Kucukkilic, Ezgi, et al.
Published: (2018)
by: Kucukkilic, Ezgi, et al.
Published: (2018)
Experiences of early labour management from perspectives of women, labour companions and health professionals: a systematic review of qualitative evidence
by: Beake, Sarah, et al.
Published: (2018)
by: Beake, Sarah, et al.
Published: (2018)
Complementary approaches to analyse genetic data in late onset Alzheimer's disease (LOAD)
by: Shi, Hui
Published: (2012)
by: Shi, Hui
Published: (2012)
Football and dementia: A qualitative investigation of a community based sports group for men with early onset dementia
by: Carone, Laura, et al.
Published: (2016)
by: Carone, Laura, et al.
Published: (2016)
Sporadic cases must be contained
by: Ahmad, Razak, et al.
Published: (2021)
by: Ahmad, Razak, et al.
Published: (2021)
Online peer support for people with Young Onset Dementia: development of a best practice guidance
by: Gerritzen, Esther Vera
Published: (2023)
by: Gerritzen, Esther Vera
Published: (2023)
Much concern over sporadic cases
by: Tang, Ashley
Published: (2020)
by: Tang, Ashley
Published: (2020)
Electrophysiological measures of conflict detection and resolution in the Stroop task
by: Coderre, Emily L., et al.
Published: (2011)
by: Coderre, Emily L., et al.
Published: (2011)
Spot the difference: Zircon disparity tracks crustal evolution
by: Barham, Milo, et al.
Published: (2019)
by: Barham, Milo, et al.
Published: (2019)
Interrogating the genetic profile of sporadic colorectal cancer
by: Fadhil, Wakkas M.
Published: (2019)
by: Fadhil, Wakkas M.
Published: (2019)
Experimental deep tissue pain in wrist extensors--a model of lateral epicondylalgia
by: Slater, Helen, et al.
Published: (2003)
by: Slater, Helen, et al.
Published: (2003)
A Better Way for Exon Identification in DNA Splicing
by: Ahmad, Muneer, et al.
Published: (2010)
by: Ahmad, Muneer, et al.
Published: (2010)
Insecticide resistance mediated 1 by an exon skipping event
by: Berger, Madeleine, et al.
Published: (2016)
by: Berger, Madeleine, et al.
Published: (2016)
Temporal order judgements of dynamic gaze stimuli reveal a postdictive prioritisation of averted over direct shifts
by: Binetti, Nicola, et al.
Published: (2017)
by: Binetti, Nicola, et al.
Published: (2017)
Complete genomic landscape of a recurring sporadic parathyroid carcinoma
by: Kasaian, K., et al.
Published: (2013)
by: Kasaian, K., et al.
Published: (2013)
RECQL4 helicase has oncogenic potential in sporadic breast
cancers
by: Arora, Arvind, et al.
Published: (2016)
by: Arora, Arvind, et al.
Published: (2016)
Clinicopathological and functional significance of RECQL1 helicase in sporadic breast cancers
by: Arora, Arvind, et al.
Published: (2017)
by: Arora, Arvind, et al.
Published: (2017)
Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma
by: Sneddon, S., et al.
Published: (2015)
by: Sneddon, S., et al.
Published: (2015)
Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort
by: Brookes, Keeley J., et al.
Published: (2018)
by: Brookes, Keeley J., et al.
Published: (2018)
RESCUE OF CFTR FUNCTION IMPAIRED BY MUTATIONS IN EXON 15 IN CHILDREN WITH CYSTIC FIBROSIS
by: Martinovich, K., et al.
Published: (2019)
by: Martinovich, K., et al.
Published: (2019)
RESCUE OF CFTR FUNCTION IMPAIRED BY MUTATIONS IN EXON 15 IN CHILDREN WITH CYSTIC FIBROSIS
by: Martinovich, K.M., et al.
Published: (2018)
by: Martinovich, K.M., et al.
Published: (2018)
Putative inhibitory actions of selected medical plants against exonic splicing enhancers
by: Rashid, Roslina
Published: (2020)
by: Rashid, Roslina
Published: (2020)
Blood type gene locus has no influence on ACE association with Alzheimer's disease
by: Braae, Anne, et al.
Published: (2015)
by: Braae, Anne, et al.
Published: (2015)
Calculating polygenic risk score for individuals with sporadic early onset Alzheimer’s disease
by: Chaudhury, Sultan R
Published: (2017)
by: Chaudhury, Sultan R
Published: (2017)
Improvement in aerobic capacity after an exercise program in sporadic inclusion body myositis
by: Johnson, L., et al.
Published: (2009)
by: Johnson, L., et al.
Published: (2009)
Gender-specific association of NFKBIA promoter polymorphisms with the risk of sporadic colorectal cancer
by: Tan, Shing Cheng, et al.
Published: (2013)
by: Tan, Shing Cheng, et al.
Published: (2013)
Sensory and motor effects of experimental muscle pain in patients with lateral epicondylalgia and controls with delayed onset muscle soreness
by: Slater, Helen, et al.
Published: (2005)
by: Slater, Helen, et al.
Published: (2005)
Pathway discovery using transcriptomic profiles in adult-onset severe asthma
by: Hekking, Pieter-Paul, et al.
Published: (2018)
by: Hekking, Pieter-Paul, et al.
Published: (2018)
Mutational screening of exon 1 of smad7 in Malay patients
with ventricular septal defect
by: Hashim, Hashima
Published: (2015)
by: Hashim, Hashima
Published: (2015)
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
by: Caparrós-Martín, Jose, et al.
Published: (2017)
by: Caparrós-Martín, Jose, et al.
Published: (2017)
Similar Items
-
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer’s disease
by: Barber, Imelda S., et al.
Published: (2016) -
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
by: Barber, Imelda S., et al.
Published: (2017) -
Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease
by: Boden, Kirsty A., et al.
Published: (2017) -
Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease
by: Chaudhary, Sultan, et al.
Published: (2018) -
Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33
by: Clement, Naomi, et al.
Published: (2016)