Publications:

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Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.

Frontiers In Neurology

Liang, Zhihou Z; Wu, Yan Y; Li, Chuanzhou C; Liu, Zhijun Z

Publication Date: 2023

Variant appearance in text: PSEN1: L235R

PubMed Link: 37051054

Variant Present in the following documents:

• Main text
• fneur-14-1119326.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: Leu235Arg

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Neural Networks in Autosomal Dominant Alzheimer's Disease: Insights From Functional Magnetic Resonance Imaging Studies.

Frontiers In Aging Neuroscience

Qiu, Qiongqiong Q

Publication Date: 2022

Variant appearance in text: PSEN1: L235R

PubMed Link: 35928996

Variant Present in the following documents:

• Main text
• fnagi-14-903269.pdf

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The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients

Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB

Publication Date: 2019-09-11

Variant appearance in text: PSEN1: L235R

PubMed Link: 31514322

Variant Present in the following documents:

• nutrients-11-02181.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: L235R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Sánchez-Valle, Raquel R; Heslegrave, Amanda A; Foiani, Martha S MS; Bosch, Beatriz B; Antonell, Anna A; Balasa, Mircea M; Lladó, Albert A; Zetterberg, Henrik H; Fox, Nick C NC

Publication Date: 2018-11-03

Variant appearance in text: PSEN1: L235R

PubMed Link: 30390718

Variant Present in the following documents:

• Main text
• 13195_2018_Article_439.pdf

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C-terminal fragments of the amyloid precursor protein in cerebrospinal fluid as potential biomarkers for Alzheimer disease.

Scientific Reports

García-Ayllón, María-Salud MS; Lopez-Font, Inmaculada I; Boix, Claudia P CP; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Zetterberg, Henrik H; Blennow, Kaj K; Sáez-Valero, Javier J

Publication Date: 2017-05-30

Variant appearance in text: PSEN1: L235R

PubMed Link: 28559572

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2841.pdf

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Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

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

Carmona-Iragui, María M; Balasa, Mircea M; Benejam, Bessy B; Alcolea, Daniel D; Fernández, Susana S; Videla, Laura L; Sala, Isabel I; Sánchez-Saudinós, María Belén MB; Morenas-Rodriguez, Estrella E; Ribosa-Nogué, Roser R; Illán-Gala, Ignacio I; Gonzalez-Ortiz, Sofía S; Clarimón, Jordi J; Schmitt, Frederick F; Powell, David K DK; Bosch, Beatriz B; Lladó, Albert A; Rafii, Michael S MS; Head, Elizabeth E; Molinuevo, José Luis JL; Blesa, Rafael R; Videla, Sebastián S; Lleó, Alberto A; Sánchez-Valle, Raquel R; Fortea, Juan J

Publication Date: 2017-11

Variant appearance in text: PSEN1: L235R

PubMed Link: 28463681

Variant Present in the following documents:

• Main text

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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y

Publication Date: 2017-01-24

Variant appearance in text: PS1: L235R

PubMed Link: 27930341

Variant Present in the following documents:

• Main text

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Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

Molecular Neurodegeneration

Sogorb-Esteve, Aitana A; García-Ayllón, María-Salud MS; Fortea, Juan J; Sánchez-Valle, Raquel R; Lleó, Alberto A; Molinuevo, José-Luis JL; Sáez-Valero, Javier J

Publication Date: 2016-09-29

Variant appearance in text: PSEN1: L235R

PubMed Link: 27686161

Variant Present in the following documents:

• Main text
• 13024_2016_Article_131.pdf

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ProSim: A Method for Prioritizing Disease Genes Based on Protein Proximity and Disease Similarity.

Biomed Research International

Ganegoda, Gamage Upeksha GU; Sheng, Yu Y; Wang, Jianxin J

Publication Date: 2015

Variant appearance in text: PSEN1: L235R

PubMed Link: 26339594

Variant Present in the following documents:

• BMRI2015-213750.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: L235R

PubMed Link: 24377094

Variant Present in the following documents:

• Main text

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Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.

Acta Neuropathologica

Pera, Marta M; Alcolea, Daniel D; Sánchez-Valle, Raquel R; Guardia-Laguarta, Cristina C; Colom-Cadena, Martí M; Badiola, Nahuai N; Suárez-Calvet, Marc M; Lladó, Albert A; Barrera-Ocampo, Alvaro A AA; Sepulveda-Falla, Diego D; Blesa, Rafael R; Molinuevo, José L JL; Clarimón, Jordi J; Ferrer, Isidre I; Gelpi, Ellen E; Lleó, Alberto A

Publication Date: 2013-02

Variant appearance in text: PSEN1: L235R

PubMed Link: 23224319

Variant Present in the following documents:

• Main text
• 401_2012_Article_1062.pdf

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