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: DNAH11: Trp3238Arg

PubMed Link: 35246273

Variant Present in the following documents:

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

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Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: Trp3238Arg

PubMed Link: 34405951

Variant Present in the following documents:

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Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Orphanet Journal Of Rare Diseases

Boon, Mieke M; Smits, Anne A; Cuppens, Harry H; Jaspers, Martine M; Proesmans, Marijke M; Dupont, Lieven J LJ; Vermeulen, Francois L FL; Van Daele, Sabine S; Malfroot, Anne A; Godding, Veronique V; Jorissen, Mark M; De Boeck, Kris K

Publication Date: 2014-01-22

Variant appearance in text: DNAH11: Trp3238Arg

PubMed Link: 24450482

Variant Present in the following documents:

• Main text
• 1750-1172-9-11.pdf

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