Publications:

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: GBA: Arg87Gln

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Molecular Genetics And Metabolism Reports

Dimitriou, Evangelia E; Moraitou, Marina M; Cozar, Mónica M; Serra-Vinardell, Jenny J; Vilageliu, Lluïsa L; Grinberg, Daniel D; Mavridou, Irene I; Michelakakis, Helen H

Publication Date: 2020-09

Variant appearance in text: GBA: 260G>A

PubMed Link: 32547927

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic architecture of common non-Alzheimer's disease dementias.

Neurobiology Of Disease

Guerreiro, Rita R; Gibbons, Elizabeth E; Tábuas-Pereira, Miguel M; Kun-Rodrigues, Celia C; Santo, Gustavo C GC; Bras, Jose J

Publication Date: 2020-08

Variant appearance in text: GBA: Arg87Gln

PubMed Link: 32439597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Bmc Medical Genetics

Sheth, Jayesh J; Bhavsar, Riddhi R; Mistri, Mehul M; Pancholi, Dhairya D; Bavdekar, Ashish A; Dalal, Ashwin A; Ranganath, Prajnya P; Girisha, Katta M KM; Shukla, Anju A; Phadke, Shubha S; Puri, Ratna R; Panigrahi, Inusha I; Kaur, Anupriya A; Muranjan, Mamta M; Goyal, Manisha M; Ramadevi, Radha R; Shah, Raju R; Nampoothiri, Sheela S; Danda, Sumita S; Datar, Chaitanya C; Kapoor, Seema S; Bhatwadekar, Seema S; Sheth, Frenny F

Publication Date: 2019-02-14

Variant appearance in text: GBA1: 260G>A; rs78769774

PubMed Link: 30764785

Variant Present in the following documents:

• Main text
• 12881_2019_Article_759.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: GBA: R87Q

PubMed Link: 30528841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology Of Disease

Geiger, Joshua T JT; Ding, Jinhui J; Crain, Barbara B; Pletnikova, Olga O; Letson, Christopher C; Dawson, Ted M TM; Rosenthal, Liana S LS; Pantelyat, Alexander A; Gibbs, J Raphael JR; Albert, Marilyn S MS; Hernandez, Dena G DG; Hillis, Argye E AE; Stone, David J DJ; Singleton, Andrew B AB; , ; Hardy, John A JA; Troncoso, Juan C JC; Scholz, Sonja W SW

Publication Date: 2016-10

Variant appearance in text: GBA: 260G>A; R87Q; rs78769774

PubMed Link: 27312774

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GBA: R87Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.

Frontiers In Genetics

Manickam, Madhumathi M; Ravanan, Palaniyandi P; Singh, Pratibha P; Talwar, Priti P

Publication Date: 2014

Variant appearance in text: rs78769774

PubMed Link: 24904648

Variant Present in the following documents:

• Main text
• fgene-05-00148.pdf

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Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Jimd Reports

Siebert, Marina M; Bock, Hugo H; Michelin-Tirelli, Kristiane K; Coelho, Janice C JC; Giugliani, Roberto R; Saraiva-Pereira, Maria Luiza ML

Publication Date: 2013

Variant appearance in text: GBA: 260G>A; Arg87Gln

PubMed Link: 23430543

Variant Present in the following documents:

• Main text

View BVdb publication page

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