Publications:

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: Val30Gly

PubMed Link: 34491937

Variant Present in the following documents:

• nrl-26-189.pdf

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Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Bmc Genomics

Iorio, Andrea A; De Angelis, Flavio F; Di Girolamo, Marco M; Luigetti, Marco M; Pradotto, Luca G LG; Mazzeo, Anna A; Frusconi, Sabrina S; My, Filomena F; Manfellotto, Dario D; Fuciarelli, Maria M; Polimanti, Renato R

Publication Date: 2017-03-23

Variant appearance in text: SI: Val30Gly

PubMed Link: 28335735

Variant Present in the following documents:

• 12864_2017_3646_MOESM1_ESM.pdf

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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: V30G

PubMed Link: 25488473

Variant Present in the following documents:

• 415_2014_Article_7594.pdf

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Activated microglia mediate synapse loss and short-term memory deficits in a mouse model of transthyretin-related oculoleptomeningeal amyloidosis.

Cell Death & Disease

Azevedo, E P EP; Ledo, J H JH; Barbosa, G G; Sobrinho, M M; Diniz, L L; Fonseca, A C C AC; Gomes, F F; Romão, L L; Lima, F R S FR; Palhano, F L FL; Ferreira, S T ST; Foguel, D D

Publication Date: 2013-09-05

Variant appearance in text: SI: Val30Gly

PubMed Link: 24008733

Variant Present in the following documents:

• cddis2013325a.pdf

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