Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Asp40del

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

View BVdb publication page

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Asp40del

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Contribution of rare variant associations to neurodegenerative disease presentation.

Npj Genomic Medicine

Dilliott, Allison A AA; Abdelhady, Abdalla A; Sunderland, Kelly M KM; Farhan, Sali M K SMK; Abrahao, Agessandro A; Binns, Malcolm A MA; Black, Sandra E SE; Borrie, Michael M; Casaubon, Leanne K LK; Dowlatshahi, Dar D; Finger, Elizabeth E; Fischer, Corinne E CE; Frank, Andrew A; Freedman, Morris M; Grimes, David D; Hassan, Ayman A; Jog, Mandar M; Kumar, Sanjeev S; Kwan, Donna D; Lang, Anthony E AE; Mandzia, Jennifer J; Masellis, Mario M; McIntyre, Adam D AD; Pasternak, Stephen H SH; Pollock, Bruce G BG; Rajji, Tarek K TK; Rogaeva, Ekaterina E; Sahlas, Demetrios J DJ; Saposnik, Gustavo G; Sato, Christine C; Seitz, Dallas D; Shoesmith, Christen C; Steeves, Thomas D L TDL; Swartz, Richard H RH; Tan, Brian B; Tang-Wai, David F DF; Tartaglia, Maria C MC; Turnbull, John J; Zinman, Lorne L; , ; Hegele, Robert A RA

Publication Date: 2021-09-28

Variant appearance in text: PSEN1: 118_120delGAC; Asp40del

PubMed Link: 34584092

Variant Present in the following documents:

• 41525_2021_243_MOESM1_ESM.pdf

View BVdb publication page

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Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Alzheimer'S Research & Therapy

Perrone, Federica F; Bjerke, Maria M; Hens, Elisabeth E; Sieben, Anne A; Timmers, Maarten M; De Roeck, Arne A; Vandenberghe, Rik R; Sleegers, Kristel K; Martin, Jean-Jacques JJ; De Deyn, Peter P PP; Engelborghs, Sebastiaan S; van der Zee, Julie J; Van Broeckhoven, Christine C; Cacace, Rita R; ,

Publication Date: 2020-09-11

Variant appearance in text: PSEN1: D40del

PubMed Link: 32917274

Variant Present in the following documents:

• Main text
• 13195_2020_Article_676.pdf

View BVdb publication page

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN1: D40del

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1

View BVdb publication page

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

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

Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A

Publication Date: 2018-12

Variant appearance in text: PSEN1: 118_120del; Asp40del

PubMed Link: 30114415

Variant Present in the following documents:

• EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6

View BVdb publication page

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Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Genome Research

Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF

Publication Date: 2017-01

Variant appearance in text: PSEN1: D40del

PubMed Link: 28003435

Variant Present in the following documents:

• supp_gr.210609.116_Supplemental_Clinical_data.xlsx, sheet 5
• supp_gr.210609.116_Supplemental_Variant_data.xlsx, sheet 5

View BVdb publication page

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