Sari Kiuru-Enari
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Explore the profile of Sari Kiuru-Enari including associated specialties, affiliations and a list of published articles.
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40
Citations
935
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Recent Articles
1.
Mustonen T, Sivonen V, Atula S, Kiuru-Enari S, Sinkkonen S
Orphanet J Rare Dis
. 2021 Oct;
16(1):448.
PMID: 34689817
Background: Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous studies based mainly on patients' self-reporting have indicated that hearing impairment...
2.
Mustonen T, Holkeri A, Holmstrom M, Atula S, Pakarinen S, Lehmonen L, et al.
Amyloid
. 2021 Apr;
28(3):168-172.
PMID: 33877023
Introduction: Finnish gelsolin amyloidosis (AGel amyloidosis) is an inherited systemic amyloidosis with well-known ophthalmological, neurological and cutaneous symptoms. Additionally, cardiomyopathies, conduction disorders and need of cardiac pacemakers occur in some...
3.
Schmidt E, Mustonen T, Kiuru-Enari S, Kivela T, Atula S
Orphanet J Rare Dis
. 2020 Jan;
15(1):19.
PMID: 31952544
Background: Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish...
4.
Koskelainen S, Zhao F, Kalimo H, Baumann M, Kiuru-Enari S
Amyloid
. 2019 Dec;
27(2):81-88.
PMID: 31814469
AGel amyloidosis is a dominantly inherited systemic amyloidosis caused by mutations p.D214N or p.D214Y resulting in gelsolin amyloid (AGel) formation. AGel accumulates extracellularly in many tissues and alongside elastic fibres....
5.
Schmidt E, Kiuru-Enari S, Atula S, Tanskanen M
Amyloid
. 2019 May;
26(3):118-124.
PMID: 31122115
Previous clinical studies have shown frequent cardiac symptoms in patients with hereditary gelsolin (AGel) amyloidosis, possibly related to amyloid deposition in the heart and other internal organs. Previous studies on...
6.
Mustonen T, Schmidt E, Valori M, Tienari P, Atula S, Kiuru-Enari S
Eur J Hum Genet
. 2017 Nov;
26(1):117-123.
PMID: 29167514
Finnish gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominantly inherited systemic disorder with ophthalmologic, neurologic and dermatologic symptoms. Only the gelsolin (GSN) c.640G>A variant has been found in the Finnish...
7.
Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Traskelin A, et al.
J Neuromuscul Dis
. 2016 Dec;
3(4):475-485.
PMID: 27911336
Background: Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting. Objective:...
8.
Pihlamaa T, Suominen S, Kiuru-Enari S, Tanskanen M
Amyloid
. 2016 Nov;
23(4):225-233.
PMID: 27879149
Background: Patients with hereditary gelsolin (AGel) amyloidosis (HGA) present with hanging skin (cutis laxa) and bilateral cranial neuropathy, and require symptomatic plastic surgery. Our clinical observation of tissue fragility prompted...
9.
Koskelainen S, Pihlamaa T, Suominen S, Zhao F, Salo T, Risteli J, et al.
APMIS
. 2016 May;
124(8):639-48.
PMID: 27198069
Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological, and dermatological manifestations. AGel amyloid accumulates at basal lamina of epithelial and...
10.
van den Boogaard M, Lemmers R, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, et al.
Am J Hum Genet
. 2016 May;
98(5):1020-1029.
PMID: 27153398
Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression...