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: Val261Leu

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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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: Val261Leu

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: PSEN1: Val261Leu

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf

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A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Life (Basel, Switzerland)

Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I

Publication Date: 2021-07-30

Variant appearance in text: PS1: 781G>C

PubMed Link: 34440516

Variant Present in the following documents:

• Main text
• life-11-00771.pdf

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: PS1: V261L

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: V261L

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Val261Leu

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: V261L

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease

Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG

Publication Date: 2013

Variant appearance in text: PSEN1: V261L

PubMed Link: 24093083

Variant Present in the following documents:

• Main text

View BVdb publication page

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