Publications:

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Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications

Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV

Publication Date: 2023

Variant appearance in text: PSEN1: L173W

PubMed Link: 36895955

Variant Present in the following documents:

• Main text
• fcad030.pdf

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: L173W

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

View BVdb publication page

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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: L173W

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 518T>G; Leu173Trp

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 518T>G; Leu173Trp

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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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: Leu173Trp

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: L173W

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

View BVdb publication page

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