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Items: 1 to 20 of 111

1.

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

Mustonen T, Schmidt EK, Valori M, Tienari PJ, Atula S, Kiuru-Enari S.

Eur J Hum Genet. 2018 Jan;26(1):117-123. doi: 10.1038/s41431-017-0026-x. Epub 2017 Nov 22.

2.

Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.

Paunio T, Sunada Y, Kiuru S, Makishita H, Ikeda S, Weissenbach J, Palo J, Peltonen L.

Hum Mutat. 1995;6(1):60-5.

PMID:
7550233
3.

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Taira M, Ishiura H, Mitsui J, Takahashi Y, Hayashi T, Shimizu J, Matsukawa T, Saito N, Okada K, Tsuji S, Sawamura H, Amano S, Goto J, Tsuji S.

Neurogenetics. 2012 Aug;13(3):237-43. doi: 10.1007/s10048-012-0330-0. Epub 2012 May 24.

PMID:
22622774
4.

Danish type gelsolin-related amyloidosis in a Brazilian family: case reports.

Solari HP, Ventura MP, Antecka E, Belfort Junior R, Burnier MN Jr.

Arq Bras Oftalmol. 2011 Jul-Aug;74(4):286-8.

5.

[Neurological manifestations of AGel amyloidosis (Meretoja's syndrome) in a German family].

Bürmann J, Fassbender K, Henn W, Lohse P, Holzhoffer C, Fassbender K, Dillmann U.

Fortschr Neurol Psychiatr. 2011 Apr;79(4):238-41. doi: 10.1055/s-0029-1246083. Epub 2011 Apr 8. German.

PMID:
21480154
6.

Gender differences in the clinical course of Finnish gelsolin amyloidosis.

Atula S, Nikoskinen T, Saastamoinen A, Strbian D, Schmidt EK, Kiuru-Enari S.

Amyloid. 2016;23(1):33-8. doi: 10.3109/13506129.2015.1119111. Epub 2016 Jan 23.

PMID:
26805765
7.

Hereditary gelsolin amyloidosis.

Kiuru-Enari S, Haltia M.

Handb Clin Neurol. 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4. Review.

PMID:
23931809
8.

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP.

Genomics. 1992 Jul;13(3):898-901.

PMID:
1322359
9.

Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis).

Kantanen M, Kiuru-Enari S, Salonen O, Kaipainen M, Hokkanen L.

PeerJ. 2014 Jul 22;2:e493. doi: 10.7717/peerj.493. eCollection 2014.

10.

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

Maury CP, Kere J, Tolvanen R, de la Chapelle A.

FEBS Lett. 1990 Dec 10;276(1-2):75-7.

11.

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

Alavi A, Elahi E, Tehrani MH, Amoli FA, Javadi MA, Rafati N, Chiani M, Banihosseini SS, Bayat B, Kalhor R, Amini SS.

Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4490-7.

PMID:
17898270
12.

Natural course of Finnish gelsolin amyloidosis.

Nikoskinen T, Schmidt EK, Strbian D, Kiuru-Enari S, Atula S.

Ann Med. 2015;47(6):506-11. doi: 10.3109/07853890.2015.1075063. Epub 2015 Sep 4.

PMID:
26339870
13.

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Gonzalez-Rodriguez J, Ramirez-Miranda A, Hernandez-Da Mota SE, Zenteno JC.

Graefes Arch Clin Exp Ophthalmol. 2014 Aug;252(8):1267-72. doi: 10.1007/s00417-014-2648-9. Epub 2014 May 7.

PMID:
24801599
14.

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

Steiner RD, Paunio T, Uemichi T, Evans JP, Benson MD.

Hum Genet. 1995 Mar;95(3):327-30.

PMID:
7868127
15.

Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CP, Kere J.

Nat Genet. 1992 Oct;2(2):157-60.

PMID:
1338910
16.

[Hereditary gelsolin amyloidosis--40 years of Meretoja disease].

Kiuru-Enari S, Haltia M.

Duodecim. 2010;126(10):1162-71. Review. Finnish.

PMID:
20597346
17.

Causes of death and life span in Finnish gelsolin amyloidosis.

Schmidt EK, Atula S, Tanskanen M, Nikoskinen T, Notkola IL, Kiuru-Enari S.

Ann Med. 2016 Aug;48(5):352-8. doi: 10.1080/07853890.2016.1177197. Epub 2016 May 2.

PMID:
27137880
18.

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Hiltunen T, Kiuru S, Hongell V, Heliö T, Palo J, Peltonen L.

Am J Hum Genet. 1991 Sep;49(3):522-8.

19.

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.

Liskova P, Gwilliam R, Filipec M, Jirsova K, Reinstein Merjava S, Deloukas P, Webb TR, Bhattacharya SS, Ebenezer ND, Morris AG, Hardcastle AJ.

PLoS One. 2012;7(9):e45495. doi: 10.1371/journal.pone.0045495. Epub 2012 Sep 25.

20.

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Wiens A, Marles S, Safneck J, Kwiatkowski DJ, Maury CP, Zelinski T, Philipps S, Ekins MB, Greenberg CR.

Am J Hum Genet. 1992 Jul;51(1):156-60.

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