Publications:

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Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience

Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S

Publication Date: 2022

Variant appearance in text: APOE: 617G>C; Gly206Ala

PubMed Link: 36133075

Variant Present in the following documents:

• fnagi-14-969817.pdf

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Admixture Mapping of Alzheimer's disease in Caribbean Hispanics identifies a new locus on 22q13.1.

Molecular Psychiatry

Kizil, Caghan C; Sariya, Sanjeev S; Kim, Yoon A YA; Rajabli, Farid F; Martin, Eden E; Reyes-Dumeyer, Dolly D; Vardarajan, Badri B; Maldonado, Aleyda A; Haines, Jonathan L JL; Mayeux, Richard R; Jiménez-Velázquez, Ivonne Z IZ; Santa-Maria, Ismael I; Tosto, Giuseppe G

Publication Date: 2022-06

Variant appearance in text: APOE: G206A

PubMed Link: 35365809

Variant Present in the following documents:

• Main text
• nihms-1789202.pdf

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APP accumulates with presynaptic proteins around amyloid plaques: A role for presynaptic mechanisms in Alzheimer's disease?

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Jordà-Siquier, Tomàs T; Petrel, Melina M; Kouskoff, Vladimir V; Smailovic, Una U; Cordelières, Fabrice F; Frykman, Susanne S; Müller, Ulrike U; Mulle, Christophe C; Barthet, Gaël G

Publication Date: 2022-11

Variant appearance in text: APOE: G206A

PubMed Link: 35076178

Variant Present in the following documents:

• ALZ-18-2099-s001.pdf

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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia

Ramos, Claudia C; Aguillon, David D; Cordano, Christian C; Lopera, Francisco F

Publication Date: 2020

Variant appearance in text: APOE: Gly206Ala

PubMed Link: 32973976

Variant Present in the following documents:

• 1980-5764-dn-14-03-223.pdf

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: APOE: G206A

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

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Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.

Cell Reports

Miranda, Andre M AM; Herman, Mathieu M; Cheng, Rong R; Nahmani, Eden E; Barrett, Geoffrey G; Micevska, Elizabeta E; Fontaine, Gaelle G; Potier, Marie-Claude MC; Head, Elizabeth E; Schmitt, Frederick A FA; Lott, Ira T IT; Jiménez-Velázquez, Ivonne Z IZ; Antonarakis, Stylianos E SE; Di Paolo, Gilbert G; Lee, Joseph H JH; Hussaini, S Abid SA; Marquer, Catherine C

Publication Date: 2018-06-05

Variant appearance in text: APOE: G206A

PubMed Link: 29874583

Variant Present in the following documents:

• NIHMS976402-supplement-1.pdf

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Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.

Neurobiology Of Aging

Soosman, Steffan K SK; Joseph-Mathurin, Nelly N; Braskie, Meredith N MN; Bordelon, Yvette M YM; Wharton, David D; Casado, Maria M; Coppola, Giovanni G; McCallum, Holly H; Nuwer, Marc M; Coutin-Churchman, Pedro P; Apostolova, Liana G LG; Benzinger, Tammie T; Ringman, John M JM

Publication Date: 2016-11

Variant appearance in text: APOE: G206A

PubMed Link: 27614114

Variant Present in the following documents:

• Main text

View BVdb publication page

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The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

American Journal Of Neurodegenerative Disease

Ravenscroft, Thomas A TA; Pottier, Cyril C; Murray, Melissa E ME; Baker, Matt M; Christopher, Elizabeth E; Levitch, Denise D; Brown, Patricia H PH; Barker, Warren W; Duara, Ranjan R; Greig-Custo, Maria M; Betancourt, Ana A; English, Mara M; Sun, Xiaoyan X; Ertekin-Taner, Nilüfer N; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Rademakers, Rosa R

Publication Date: 2016

Variant appearance in text: APOE: 617G>C; G206A

PubMed Link: 27073747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Domoto-Reilly, Kimiko K; Davis, Marie Y MY; Keene, C Dirk CD; Bird, Thomas D TD

Publication Date: 2017-01

Variant appearance in text: APOE: G206A

PubMed Link: 26990251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neuropathologic assessment of participants in two multi-center longitudinal observational studies: the Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN).

Neuropathology : Official Journal Of The Japanese Society Of Neuropathology

Cairns, Nigel J NJ; Perrin, Richard J RJ; Franklin, Erin E EE; Carter, Deborah D; Vincent, Benjamin B; Xie, Mingqiang M; Bateman, Randall J RJ; Benzinger, Tammie T; Friedrichsen, Karl K; Brooks, William S WS; Halliday, Glenda M GM; McLean, Catriona C; Ghetti, Bernardino B; Morris, John C JC; , ; ,

Publication Date: 2015-08

Variant appearance in text: APOE: G206A

PubMed Link: 25964057

Variant Present in the following documents:

• Main text

View BVdb publication page

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