User profiles for Cyril P. Pottier
 | Cyril PottierMayo Clinic Jacsonville, Department of Neuroscience Verified email at mayo.edu Cited by 3248 |
An enrichment of rare variants and the lysosomal pathways are important contributors to early onset Alzheimer disease
Background A limited number of studies have looked at the genetics of early onset (≤65 years
old) Alzheimer disease (EOAD); hence, there is much unidentified heritability contributing …
old) Alzheimer disease (EOAD); hence, there is much unidentified heritability contributing …
Identification of novel Alzheimer's disease genes co-expressed with TREM2
…, GD Jenkins, JP Sinnwell, MM Carrasquillo, CP Pottier… - bioRxiv, 2020 - biorxiv.org
By analyzing whole-exome data from the Alzheimer’s disease sequencing project (ADSP),
we identify a set of 4 genes that show highly significant association with Alzheimer’s disease (…
we identify a set of 4 genes that show highly significant association with Alzheimer’s disease (…
Investigating phenotypic modifiers of Alzheimer's disease utilizing cellular and transcriptomic signatures of PSEN1 mutation carriers
CP Pottier, SJ Lincoln, BDC Boon… - Alzheimer's & …, 2023 - Wiley Online Library
Investigating phenotypic modifiers of Alzheimer’s disease utilizing cellular and transcriptomic
signatures of PSEN1 mutation carriers - Pottier - 2023 - … Cyril P Pottier … Cyril P Pottier …
signatures of PSEN1 mutation carriers - Pottier - 2023 - … Cyril P Pottier … Cyril P Pottier …
Gearing up for the future: Exploring facilitators and barriers to inform clinical trial design in frontotemporal lobar degeneration
…, R Pearlman, L Petrucelli, CP Pottier… - Alzheimer's & …, 2021 - Wiley Online Library
Background Frontotemporal lobar degeneration (FTLD) refers to a group of neurodegenerative
conditions, affecting the frontal and/or temporal lobes. Ongoing research has provided …
conditions, affecting the frontal and/or temporal lobes. Ongoing research has provided …
Lower autoimmune disease prevalence in patients with early onset Alzheimer's disease compared to cognitively normal controls
…, Z Li, LJ White, JE Olson, CP Pottier… - Alzheimer's & …, 2023 - Wiley Online Library
Background Perturbations in immune pathways are strongly associated with Alzheimer’s
disease. A positive association between autoimmune diseases and frontotemporal dementia …
disease. A positive association between autoimmune diseases and frontotemporal dementia …
[CITATION][C] O3‐06‐02: POLYGENIC SCORE ANALYSIS OF EXONIC VARIANTS IN AN IMMUNE CO‐REGULATORY NETWORK IDENTIFIES NOVEL PROTEIN …
Background Alzheimer's disease (AD), the most common form of dementia, has a strong
genetic component. Large scale genotyping and sequencing has identified many important AD …
genetic component. Large scale genotyping and sequencing has identified many important AD …
Clinicoradiologic Correlates of Corticolimbic Index (CLix) and Glial Activation Differences Among Neuropathologic Subtypes of Alzheimer's Disease: A Retrospective …
Background: Selective corticolimbic vulnerability to tau pathology in Alzheimer’s disease (AD)
underlies clinicopathologic heterogeneity. We aimed to re-express the AD subtype …
underlies clinicopathologic heterogeneity. We aimed to re-express the AD subtype …
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
… Case A was a compound heterozygote for mutations in OPTN, carrying the p.Q235* nonsense
and p.A481V missense mutation in trans, while case B carried a deletion of OPTN exons …
and p.A481V missense mutation in trans, while case B carried a deletion of OPTN exons …
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease
The rs75932628-T variant of the gene encoding the triggering receptor expressed on myeloid
cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's …
cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's …
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification
… After screening the relatives, the p.Leu658Pro substitution within the PDGFRB gene
remained the sole unknown mutation segregating with the disease in the family. This variation, …
remained the sole unknown mutation segregating with the disease in the family. This variation, …