Publications:

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: PKD1: Trp3603Term

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 10809G>A; Trp3603X

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: W3603X

PubMed Link: 27835667

Variant Present in the following documents:

• Main text
• pone.0166288.pdf

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Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Irazabal, Maria V MV; Huston, John J; Kubly, Vickie V; Rossetti, Sandro S; Sundsbak, Jamie L JL; Hogan, Marie C MC; Harris, Peter C PC; Brown, Robert D RD; Torres, Vicente E VE

Publication Date: 2011-06

Variant appearance in text: PKD1: W3603X

PubMed Link: 21551026

Variant Present in the following documents:

• Main text

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