Publications:

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Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences

Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-12-30

Variant appearance in text: CJD: A117A

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.

Journal Of Neurology

Eraña, Hasier H; San Millán, Beatriz B; Díaz-Domínguez, Carlos M CM; Charco, Jorge M JM; Rodríguez, Rosa R; Viéitez, Irene I; Pereda, Arrate A; Yañez, Rosa R; Geijo, Mariví M; Navarro, Carmen C; Perez de Nanclares, Guiomar G; Teijeira, Susana S; Castilla, Joaquín J

Publication Date: 2022-08

Variant appearance in text: PRNP: A117A

PubMed Link: 35294616

Variant Present in the following documents:

• Main text
• 415_2022_Article_11051.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: PRNP: A117A; rs8124214

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Plos One

Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M

Publication Date: 2018

Variant appearance in text: PRNP: A117A; rs8124214

PubMed Link: 30157244

Variant Present in the following documents:

• pone.0203313.s001.xlsx, sheet 1

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Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease.

Scientific Reports

Steinacker, Petra P; Blennow, Kaj K; Halbgebauer, Steffen S; Shi, Song S; Ruf, Viktoria V; Oeckl, Patrick P; Giese, Armin A; Kuhle, Jens J; Slivarichova, Dana D; Zetterberg, Henrik H; Otto, Markus M

Publication Date: 2016-12-08

Variant appearance in text: CJD: A117A

PubMed Link: 27929120

Variant Present in the following documents:

• Main text
• srep38737.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PRNP: A117A; rs8124214

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.

Neurology

Jones, Matthew M; Odunsi, Sola S; du Plessis, Daniel D; Vincent, Angela A; Bishop, Matthew M; Head, Mark W MW; Ironside, James W JW; Gow, David D

Publication Date: 2014-06-10

Variant appearance in text: PRNP: A117A

PubMed Link: 24814844

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.

Plos One

Jansen, Casper C; Parchi, Piero P; Capellari, Sabina S; Ibrahim-Verbaas, Carla A CA; Schuur, Maaike M; Strammiello, Rosaria R; Corrado, Patrizia P; Bishop, Matthew T MT; van Gool, Willem A WA; Verbeek, Marcel M MM; Baas, Frank F; van Saane, Wesley W; Spliet, Wim G M WG; Jansen, Gerard H GH; van Duijn, Cornelia M CM; Rozemuller, Annemieke J M AJ

Publication Date: 2012

Variant appearance in text: PRNP: A117A

PubMed Link: 22558438

Variant Present in the following documents:

• Main text
• pone.0036333.pdf

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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Bmc Medical Genetics

Bishop, Matthew T MT; Pennington, Catherine C; Heath, Craig A CA; Will, Robert G RG; Knight, Richard S G RS

Publication Date: 2009-12-26

Variant appearance in text: PRNP: A117A

PubMed Link: 20035629

Variant Present in the following documents:

• Main text

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Genetic susceptibility, evolution and the kuru epidemic.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Mead, Simon S; Whitfield, Jerome J; Poulter, Mark M; Shah, Paresh P; Uphill, James J; Beck, Jonathan J; Campbell, Tracy T; Al-Dujaily, Huda H; Hummerich, Holger H; Alpers, Michael P MP; Collinge, John J

Publication Date: 2008-11-27

Variant appearance in text: PRNP: A117A

PubMed Link: 18849290

Variant Present in the following documents:

• Main text
• rstb20080087.pdf

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Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study.

Journal Of Medical Genetics

Vollmert, C C; Windl, O O; Xiang, W W; Rosenberger, A A; Zerr, I I; Wichmann, H-E HE; Bickeböller, H H; Illig, T T; , ; Kretzschmar, H A HA

Publication Date: 2006-10

Variant appearance in text: PRNP: A117A

PubMed Link: 17047093

Variant Present in the following documents:

• Main text

View BVdb publication page

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