PSEN1 c.703C>G ;(p.L235V)

Variant ID: 14-73659506-C-G

NM_000021.3(PSEN1):c.703C>G;(p.L235V)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


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: L235V
PubMed Link: 37051054
Variant Present in the following documents:
  • Main text
  • fneur-14-1119326.pdf
View BVdb publication page



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: Leu235Val
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience
Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ
Publication Date: 2022

Variant appearance in text: PSEN1: L235V
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.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: L235V
PubMed Link: 35928996
Variant Present in the following documents:
  • Main text
  • fnagi-14-903269.pdf
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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-06

Variant appearance in text: PSEN1: L235V
PubMed Link: 35365805
Variant Present in the following documents:
  • Main text
  • 41380_2022_Article_1518.pdf
View BVdb publication page



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: L235V
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



1H MRS spectroscopy in preclinical autosomal dominant Alzheimer disease.

Brain Imaging And Behavior
Joe, Elizabeth E; Medina, Luis D LD; Ringman, John M JM; O'Neill, Joseph J
Publication Date: 2019-08

Variant appearance in text: PSEN1: L235V
PubMed Link: 29907927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers.

Neurobiology Of Aging
Petok, Jessica R JR; Myers, Catherine E CE; Pa, Judy J; Hobel, Zachary Z; Wharton, David M DM; Medina, Luis D LD; Casado, Maria M; Coppola, Giovanni G; Gluck, Mark A MA; Ringman, John M JM
Publication Date: 2018-05

Variant appearance in text: PSEN1: L235V
PubMed Link: 29494861
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.

Journal Of Neuropathology And Experimental Neurology
Ringman, John M JM; Monsell, Sarah S; Ng, Denise W DW; Zhou, Yan Y; Nguyen, Andy A; Coppola, Giovanni G; Van Berlo, Victoria V; Mendez, Mario F MF; Tung, Spencer S; Weintraub, Sandra S; Mesulam, Marek-Marsel MM; Bigio, Eileen H EH; Gitelman, Darren R DR; Fisher-Hubbard, Amanda O AO; Albin, Roger L RL; Vinters, Harry V HV
Publication Date: 2016-03

Variant appearance in text: PSEN1: L235V
PubMed Link: 26888304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Frontiers In Neurology
Schindler, Suzanne Elizabeth SE; Fagan, Anne M AM
Publication Date: 2015

Variant appearance in text: PSEN1: L235V
PubMed Link: 26175713
Variant Present in the following documents:
  • Main text
  • fneur-06-00142.pdf
View BVdb publication page



Memory binding and white matter integrity in familial Alzheimer's disease.

Brain : A Journal Of Neurology
Parra, Mario A MA; Saarimäki, Heini H; Bastin, Mark E ME; Londoño, Ana C AC; Pettit, Lewis L; Lopera, Francisco F; Della Sala, Sergio S; Abrahams, Sharon S
Publication Date: 2015-05

Variant appearance in text: PSEN1: L235V
PubMed Link: 25762465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: PSEN1: Leu235Val
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Leu235Val
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad
Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC
Publication Date: 2013

Variant appearance in text: PSEN1: L235V
PubMed Link: 23380992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Conformation-dependent oligomers in cerebrospinal fluid of presymptomatic familial Alzheimer's disease mutation carriers.

Dementia And Geriatric Cognitive Disorders Extra
Ringman, John M JM; Tomic, Jennifer L JL; Coppola, Giovanni G; Elashoff, David D; Gylys, Karen H KH; Glabe, Charles G CG
Publication Date: 2012-01

Variant appearance in text: PSEN1: L235V
PubMed Link: 23341831
Variant Present in the following documents:
  • Main text
  • dee-0002-0652.pdf
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Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.

Journal Of Neurology, Neurosurgery, And Psychiatry
Lee, Grace J GJ; Lu, Po H PH; Medina, Luis D LD; Rodriguez-Agudelo, Yaneth Y; Melchor, Stephanie S; Coppola, Giovanni G; Braskie, Meredith N MN; Hua, Xue X; Apostolova, Liana G LG; Leow, Alex D AD; Thompson, Paul M PM; Ringman, John M JM
Publication Date: 2013-02

Variant appearance in text: PSEN1: L235V
PubMed Link: 23085935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Appraisal of cognition in preclinical Alzheimer's disease: a conceptual review.

Neurodegenerative Disease Management
Knopman, David S DS; Caselli, Richard J RJ
Publication Date: 2012

Variant appearance in text: PS1: L235V
PubMed Link: 22798965
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.

Archives Of Neurology
Ringman, John M JM; Elashoff, David D; Geschwind, Daniel H DH; Welsh, Brian T BT; Gylys, Karen H KH; Lee, Cathy C; Cummings, Jeffrey L JL; Cole, Greg M GM
Publication Date: 2012-06

Variant appearance in text: PSEN1: L235V
PubMed Link: 22689192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.

Journal Of Neurology
Joshi, Aditi A; Ringman, John M JM; Lee, Albert S AS; Juarez, Kevin O KO; Mendez, Mario F MF
Publication Date: 2012-10

Variant appearance in text: PSEN1: L235V
PubMed Link: 22460587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cerebrospinal fluid biomarkers and proximity to diagnosis in preclinical familial Alzheimer's disease.

Dementia And Geriatric Cognitive Disorders
Ringman, John M JM; Coppola, Giovanni G; Elashoff, David D; Rodriguez-Agudelo, Yaneth Y; Medina, Luis D LD; Gylys, Karen K; Cummings, Jeffrey L JL; Cole, Greg M GM
Publication Date: 2012

Variant appearance in text: PSEN1: L235V
PubMed Link: 22343824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations.

Archives Of Neurology
Ringman, John M JM; Schulman, Howard H; Becker, Chris C; Jones, Ted T; Bai, Yuchen Y; Immermann, Fred F; Cole, Gregory G; Sokolow, Sophie S; Gylys, Karen K; Geschwind, Daniel H DH; Cummings, Jeffrey L JL; Wan, Hong I HI
Publication Date: 2012-01

Variant appearance in text: PSEN1: L235V
PubMed Link: 22232349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease.

Dementia And Geriatric Cognitive Disorders
Apostolova, Liana G LG; Hwang, Kristy S KS; Medina, Luis D LD; Green, Amity E AE; Braskie, Meredith N MN; Dutton, Rebecca A RA; Lai, Jeffrey J; Geschwind, Daniel H DH; Cummings, Jeffrey L JL; Thompson, Paul M PM; Ringman, John M JM
Publication Date: 2011

Variant appearance in text: PSEN1: L235V
PubMed Link: 21952501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased fMRI signal with age in familial Alzheimer's disease mutation carriers.

Neurobiology Of Aging
Braskie, Meredith N MN; Medina, Luis D LD; Rodriguez-Agudelo, Yaneth Y; Geschwind, Daniel H DH; Macias-Islas, Miguel Angel MA; Cummings, Jeffrey L JL; Bookheimer, Susan Y SY; Ringman, John M JM
Publication Date: 2012-02

Variant appearance in text: PSEN1: L235V
PubMed Link: 21129823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insensitivity of visual assessment of hippocampal atrophy in familial Alzheimer's disease.

Journal Of Neurology
Ringman, John Matthew JM; Pope, Whitney W; Salamon, Noriko N
Publication Date: 2010-05

Variant appearance in text: PSEN1: L235V
PubMed Link: 20047059
Variant Present in the following documents:
  • Main text
  • 415_2009_Article_5436.pdf
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Cortical event-related potentials in preclinical familial Alzheimer disease.

Neurology
Golob, E J EJ; Ringman, J M JM; Irimajiri, R R; Bright, S S; Schaffer, B B; Medina, L D LD; Starr, A A
Publication Date: 2009-11-17

Variant appearance in text: PSEN1: L235V
PubMed Link: 19917987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mapping progressive brain structural changes in early Alzheimer's disease and mild cognitive impairment.

Neuropsychologia
Apostolova, Liana G LG; Thompson, Paul M PM
Publication Date: 2008

Variant appearance in text: PS1: L235V
PubMed Link: 18395760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia.

International Psychogeriatrics
Ringman, John M JM; Rodriguez, Yaneth Y; Diaz-Olavarrieta, Claudia C; Chavez, Mireya M; Thompson, Michael M; Fairbanks, Lynn L; Paz, Francisco F; Varpetian, Arousiak A; Chaparro, Hector H; Macias-Islas, Miguel Angel MA; Murrell, Jill J; Ghetti, Bernardino B; Kawas, Claudia C
Publication Date: 2007-04

Variant appearance in text: PSEN1: L235V
PubMed Link: 16805926
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuropsychological function in nondemented carriers of presenilin-1 mutations.

Neurology
Ringman, J M JM; Diaz-Olavarrieta, C C; Rodriguez, Y Y; Chavez, M M; Fairbanks, L L; Paz, F F; Varpetian, A A; Maldonado, H C HC; Macias-Islas, M A MA; Murrell, J J; Ghetti, B B; Kawas, C C
Publication Date: 2005-08-23

Variant appearance in text: PS1: L235V
PubMed Link: 16116115
Variant Present in the following documents:
  • Main text
View BVdb publication page