Publications:

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Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.

Arquivos De Neuro-Psiquiatria

Pinto, Marcus Vinicius MV; França, Marcondes Cavalcante MC; Gonçalves, Marcus Vinicius Magno MVM; Machado-Costa, Marcela Câmara MC; Freitas, Marcos Raimundo Gomes de MRG; Gondim, Francisco de Assis Aquino FAA; Marrone, Carlo Domenico CD; Martinez, Alberto Rolim Muro ARM; Moreira, Carolina Lavigne CL; Nascimento, Osvaldo J M OJM; Covaleski, Anna Paula Paranhos APP; Oliveira, Acary Souza Bulle de ASB; Pupe, Camila Castelo Branco CCB; Rodrigues, Marcia Maria Jardim MMJ; Rotta, Francisco Tellechea FT; Scola, Rosana Herminia RH; Marques, Wilson W; Waddington-Cruz, Márcia M

Publication Date: 2023-03

Variant appearance in text: SI: Tyr114Cys

PubMed Link: 37059440

Variant Present in the following documents:

• 10-1055-s-0043-1764412.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SI: 341A>G; Y114C

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.

The Neurologist

Qin, Qi Q; Wei, Cuibai C; Piao, YueShan Y; Lian, Fang F; Wu, Hao H; Zhou, Aihong A; Wang, Fen F; Zuo, Xiumei X; Han, Yue Y; Lyu, Jihui J; Guo, Dongmei D; Jia, Jianping J

Publication Date: 2021-09-07

Variant appearance in text: SI: Y114C

PubMed Link: 34491937

Variant Present in the following documents:

• nrl-26-189.pdf

View BVdb publication page

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Amyloid formation of fish β-parvalbumin involves primary nucleation triggered by disulfide-bridged protein dimers.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Werner, Tony E R TER; Bernson, David D; Esbjörner, Elin K EK; Rocha, Sandra S; Wittung-Stafshede, Pernilla P

Publication Date: 2020-11-10

Variant appearance in text: SI: Tyr114Cys

PubMed Link: 33093204

Variant Present in the following documents:

• Main text
• pnas.202015503.pdf

View BVdb publication page

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Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

Orphanet Journal Of Rare Diseases

Sekijima, Yoshiki Y; Ueda, Mitsuharu M; Koike, Haruki H; Misawa, Sonoko S; Ishii, Tomonori T; Ando, Yukio Y

Publication Date: 2018-01-17

Variant appearance in text: SI: Tyr114Cys

PubMed Link: 29343286

Variant Present in the following documents:

• 13023_2017_Article_726.pdf

View BVdb publication page

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Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.

Journal Of Neurology

McColgan, P P; Viegas, S S; Gandhi, S S; Bull, K K; Tudor, R R; Sheikh, F F; Pinney, J J; Fontana, M M; Rowczenio, D D; Gillmore, J D JD; Gilbertson, J A JA; Whelan, C J CJ; Shah, S S; Jaunmuktane, Z Z; Holton, J L JL; Schott, J M JM; Werring, D J DJ; Hawkins, P N PN; Reilly, M M MM

Publication Date: 2015-01

Variant appearance in text: SI: Tyr114Cys

PubMed Link: 25488473

Variant Present in the following documents:

• 415_2014_Article_7594.pdf

View BVdb publication page

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