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Items: 42

1.

Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis.

Schmidt EK, Kiuru-Enari S, Atula S, Tanskanen M.

Amyloid. 2019 Sep;26(3):118-124. doi: 10.1080/13506129.2019.1604336. Epub 2019 May 23.

PMID:
31122115
2.

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.

3.

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S.

J Neuromuscul Dis. 2016 Nov 29;3(4):475-485.

PMID:
27911336
4.

Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis.

Pihlamaa T, Suominen S, Kiuru-Enari S, Tanskanen M.

Amyloid. 2016 Dec;23(4):225-233. Epub 2016 Nov 23.

PMID:
27879149
5.

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall.

Koskelainen S, Pihlamaa T, Suominen S, Zhao F, Salo T, Risteli J, Baumann M, Kalimo H, Kiuru-Enari S.

APMIS. 2016 Aug;124(8):639-48. doi: 10.1111/apm.12554. Epub 2016 May 20.

PMID:
27198069
6.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

7.

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
8.

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.

Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H.

Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun.

9.

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.

Raivio VE, Jonasson J, Myllykangas L, Ala-Mello S, Kankuri-Tammilehto M, Kiuru-Enari S, Westermark P, Tanskanen M, Kivelä T.

Amyloid. 2016;23(1):46-50. doi: 10.3109/13506129.2015.1126574. Epub 2016 Feb 1.

PMID:
26828956
10.

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
11.

Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis.

Pihlamaa T, Salmi T, Suominen S, Kiuru-Enari S.

Muscle Nerve. 2016 May;53(5):762-9. doi: 10.1002/mus.24922. Epub 2016 Feb 26.

PMID:
26422119
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.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B.

Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27.

PMID:
26338452
14.

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari PJ, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen M.

Acta Neurol Scand. 2016 May;133(5):361-6. doi: 10.1111/ane.12470. Epub 2015 Jul 30.

PMID:
26224640
15.

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.

16.

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B.

Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28.

PMID:
25047669
17.

Relation of gelsolin amyloidosis and periodontal health.

Juusela PL, Persson RG, Nieminen AR, Kiuru-Enari SM, Uitto VJ.

Clin Oral Investig. 2015 Mar;19(2):229-35. doi: 10.1007/s00784-014-1254-x. Epub 2014 May 23.

PMID:
24852333
18.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

19.

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
20.

Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.

Yamanaka S, Miyazaki Y, Kasai K, Ikeda S, Kiuru-Enari S, Hosoya T.

Clin Kidney J. 2013 Apr;6(2):189-93. doi: 10.1093/ckj/sft007.

21.

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H.

Neurogenetics. 2013 May;14(2):123-32. doi: 10.1007/s10048-013-0358-9. Epub 2013 Mar 3.

PMID:
23456260
22.

Xerostomia in hereditary gelsolin amyloidosis.

Juusela P, Tanskanen M, Nieminen A, Kari K, Suominen L, Uitto VJ, Kiuru-Enari S.

Amyloid. 2013 Mar;20(1):39-44. doi: 10.3109/13506129.2013.764284. Epub 2013 Jan 28.

PMID:
23356404
23.

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.

Mahjneh I, Bashir R, Kiuru-Enari S, Linssen W, Lamminen A, Visser Md.

Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S130-6. doi: 10.1016/j.nmd.2012.02.007.

PMID:
22980764
24.

Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.

Pihlamaa T, Suominen S, Kiuru-Enari S.

Amyloid. 2012 Jun;19 Suppl 1:30-3. doi: 10.3109/13506129.2012.674076. Epub 2012 Apr 18.

PMID:
22512621
25.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H.

Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3.

PMID:
21820356
26.

Gelsolin amyloidosis as a cause of early aging and progressive bilateral facial paralysis.

Pihlamaa T, Rautio J, Kiuru-Enari S, Suominen S.

Plast Reconstr Surg. 2011 Jun;127(6):2342-51. doi: 10.1097/PRS.0b013e318213a0a2.

PMID:
21617468
27.

Clinical features of facioscapulohumeral muscular dystrophy 2.

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.

Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175.

28.

A new distal myopathy with mutation in anoctamin 5.

Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R.

Neuromuscul Disord. 2010 Dec;20(12):791-5. doi: 10.1016/j.nmd.2010.07.270. Epub 2010 Aug 7.

29.

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

Kiuru-Enari S, Haltia M.

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

PMID:
20597346
30.

Investigation of AGE, their receptor and NF-kappaB activation and apoptosis in patients with ATTR and Gelsolin amyloidosis.

Anan I, Kiuru-Enari S, Obayashi K, Ranløv PJ, Ando Y.

Histol Histopathol. 2010 Jun;25(6):691-9. doi: 10.14670/HH-25.691.

PMID:
20376775
31.

Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.

Juusela P, Tanskanen M, Nieminen A, Uitto VJ, Blåfield H, Kiuru-Enari S.

Clin Rheumatol. 2009 Nov;28(11):1351-4. doi: 10.1007/s10067-009-1260-6. Epub 2009 Aug 23.

PMID:
19701715
32.

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis.

Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S.

Amyloid. 2009 Jun 25:1-7. doi: 10.1080/13506120701223149. Epub 2009 Jun 25. Retraction in: Amyloid. 2009 Dec;16(4):246.

PMID:
19557557
33.

A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.

Korpela MP, Paetau A, Löfberg MI, Timonen MH, Lamminen AE, Kiuru-Enari SM.

Muscle Nerve. 2009 Jul;40(1):143-8. doi: 10.1002/mus.21291.

PMID:
19472353
34.

Outcome of renal transplant in hereditary gelsolin amyloidosis.

Shoja MM, Ardalan MR, Tubbs RS, Kiuru-Enari S.

Am J Med Sci. 2009 May;337(5):370-2. doi: 10.1097/MAJ.0b013e3181a4199c.

PMID:
19440061
35.

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study.

Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L.

Ann Med. 2008;40(3):232-9. doi: 10.1080/07853890701842988.

PMID:
18382889
36.

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report.

Tanskanen M, Paetau A, Salonen O, Salmi T, Lamminen A, Lindsberg P, Somer H, Kiuru-Enari S.

Amyloid. 2007 Mar;14(1):89-95.

PMID:
17453628
37.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88. Epub 2006 Nov 21.

38.

Senile systemic amyloidosis, cerebral amyloid angiopathy, and dementia in a very old Finnish population.

Tanskanen M, Kiuru-Enari S, Tienari P, Polvikoski T, Verkkoniemi A, Rastas S, Sulkava R, Paetau A.

Amyloid. 2006 Sep;13(3):164-9.

PMID:
17062383
39.

Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East.

Ardalan MR, Shoja MM, Kiuru-Enari S.

Nephrol Dial Transplant. 2007 Jan;22(1):272-5. Epub 2006 Sep 23. No abstract available.

PMID:
16998221
40.

Cerebral amyloid angiopathy in a 95+ cohort: complement activation and apolipoprotein E (ApoE) genotype.

Tanskanen M, Lindsberg PJ, Tienari PJ, Polvikoski T, Sulkava R, Verkkoniemi A, Rastas S, Paetau A, Kiuru-Enari S.

Neuropathol Appl Neurobiol. 2005 Dec;31(6):589-99.

PMID:
16281907
41.

Cutis laxa in hereditary gelsolin amyloidosis.

Kiuru-Enari S, Keski-Oja J, Haltia M.

Br J Dermatol. 2005 Feb;152(2):250-7.

PMID:
15727635
42.

Neuromuscular pathology in hereditary gelsolin amyloidosis.

Kiuru-Enari S, Somer H, Seppäläinen AM, Notkola IL, Haltia M.

J Neuropathol Exp Neurol. 2002 Jun;61(6):565-71.

PMID:
12071640

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