Publications:

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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences

Bougea, Anastasia A

Publication Date: 2023-03-09

Variant appearance in text: LRRK2: T2310M

PubMed Link: 36982356

Variant Present in the following documents:

• Main text
• ijms-24-05281.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: LRRK2: T2310M; rs200002022

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

International Journal Of Molecular Sciences

Diez-Fairen, Monica M; Alvarez Jerez, Pilar P; Berghausen, Joos J; Bandres-Ciga, Sara S

Publication Date: 2021-07-28

Variant appearance in text: LRRK2: T2310M

PubMed Link: 34360863

Variant Present in the following documents:

• Main text
• ijms-22-08100.pdf

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Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration

Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T

Publication Date: 2021-06-21

Variant appearance in text: LRRK2: T2310M; rs200002022

PubMed Link: 34148545

Variant Present in the following documents:

• 13024_2021_455_MOESM1_ESM.pdf

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Genetics of Progressive Supranuclear Palsy: A Review.

Journal Of Parkinson'S Disease

Wen, Yafei Y; Zhou, Yafang Y; Jiao, Bin B; Shen, Lu L

Publication Date: 2021

Variant appearance in text: LRRK2: T2310M

PubMed Link: 33104043

Variant Present in the following documents:

• Main text
• jpd-11-jpd202302.pdf

View BVdb publication page

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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging

Blauwendraat, Cornelis C; Pletnikova, Olga O; Geiger, Joshua T JT; Murphy, Natalie A NA; Abramzon, Yevgeniya Y; Rudow, Gay G; Mamais, Adamantios A; Sabir, Marya S MS; Crain, Barbara B; Ahmed, Sarah S; Rosenthal, Liana S LS; Bakker, Catherine C CC; Faghri, Faraz F; Chia, Ruth R; Ding, Jinhui J; Dawson, Ted M TM; Pantelyat, Alexander A; Albert, Marilyn S MS; Nalls, Mike A MA; Resnick, Susan M SM; Ferrucci, Luigi L; Cookson, Mark R MR; Hillis, Argye E AE; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2019-04

Variant appearance in text: LRRK2: T2310M

PubMed Link: 30528841

Variant Present in the following documents:

• Main text

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Genomic profile analysis of diffuse-type gastric cancers.

Genome Biology

Lee, Yeon-Su YS; Cho, Yun Sung YS; Lee, Geon Kook GK; Lee, Sunghoon S; Kim, Young-Woo YW; Jho, Sungwoong S; Kim, Hak-Min HM; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Kim, Sook-young SY; Hong, Dongwan D; Choi, Il Ju IJ; Kim, Byung Chul BC; Kim, Byoung-Chul BC; Kim, Chul Hong CH; Choi, Hansol H; Kim, Youngju Y; Kim, Kyung Wook KW; Kong, Gu G; Kim, Hyung Lae HL; Bhak, Jong J; Lee, Seung Hoon SH; Lee, Jin Soo JS

Publication Date: 2014-04-01

Variant appearance in text: LRRK2: T2310M

PubMed Link: 24690483

Variant Present in the following documents:

• gb-2014-15-4-r55-S2.xlsx, sheet 1

View BVdb publication page

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