Sari Maaret Kristiina Kiuru-Enari

Publications

Research output per year 2005 2010 2016 2021

• 49 Article
• 2 Review Article
• 1 Chapter

Research output per year

Research output per year

Search results

• 2021

  Cardiac manifestations in Finnish gelsolin amyloidosis patients

  Mustonen, T., Holkeri, A., Holmström, M., Atula, S., Pakarinen, S., Lehmonen, L., Kiuru-Enari, S. & Aro, A. L., 3 Jul 2021, In: Amyloid. 28, 3, p. 168-172 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Hearing problems in patients with hereditary gelsolin amyloidosis

  Mustonen, T., Sivonen, V., Atula, S., Kiuru-Enari, S. & Sinkkonen, S. T., 24 Oct 2021, In: Orphanet journal of rare diseases. 16, 1, 8 p., 448.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2020

  Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study

  Schmidt, E.-K., Mustonen, T., Kiuru-Enari, S., Kivelä, T. T. & Atula, S., 17 Jan 2020, In: Orphanet journal of rare diseases. 15, 1, 13 p., 19.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Severe elastolysis in hereditary gelsolin (AGel) amyloidosis

  Koskelainen, S., Zhao, F., Kalimo, H., Baumann, M. & Kiuru-Enari, S., 2 Apr 2020, In: Amyloid. 27, 2, p. 81-88 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2019

  Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis

  Schmidt, E.-K., Kiuru-Enari, S., Atula, S. & Tanskanen, M., 3 Jul 2019, In: Amyloid. 26, 3, p. 118-124 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2018

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

  Mustonen, T., Schmidt, E.-K., Valori, M., Tienari, P. J., Atula, S. & Kiuru-Enari, S., Jan 2018, In: European Journal of Human Genetics. 26, 1, p. 117–123 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2016

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

  Raivio, V. E., Jonasson, J., Myllykangas, L., Ala-Mello, S., Kankuri-Tammilehto, M., Kiuru-Enari, S., Westermark, P., Tanskanen, M. & Kivela, T., 2 Jan 2016, In: Amyloid. 23, 1, p. 46-50 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Causes of death and life span in Finnish gelsolin amyloidosis

  Schmidt, E.-K., Atula, S., Tanskanen, M., Nikoskinen, T., Notkola, I.-L. & Kiuru-Enari, S., 2016, In: Annals of Medicine. 48, 5, p. 352-358 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

  Ylikallio, E., Auranen, M., Mahjneh, I., Lamminen, A., Kousi, M., Träskelin, A.-L., Muurinen , T., Löfberg, M., Salmi, T., Paetau, A., Lehesjoki, A.-E., Piirilä, P. & Kiuru-Enari, S., 29 Nov 2016, In: Journal of Neuromuscular Diseases. 3, 4, p. 475-485 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• 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., Aug 2016, In: APMIS : Acta pathologica, microbiologica et immunologica Scandinavica. 124, 8, p. 639-648 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Gender differences in the clinical course of Finnish gelsolin amyloidosis

  Atula, S., Nikoskinen, T., Saastamoinen, A., Strbian, D., Schmidt, E.-K. & Kiuru-Enari, S., 2 Jan 2016, In: Amyloid. 23, 1, p. 33-38 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  Pihlamaa, T., Suominen, S., Kiuru-Enari, S. M. K. & Tanskanen, M., Dec 2016, In: Amyloid. 23, 4, p. 225-233 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

  Pasanen, P., Myllykangas, L., Poyhonen, M., Kiuru-Enari, S., Tienari, P. J., Laaksovirta, H., Toppila, J., Ylikallio, E., Tyynismaa, H. & Auranen, M., May 2016, In: Acta Neurologica Scandinavica. 133, 5, p. 361-366 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  van den Boogaard, M. L., Lemmers, R. J. L. F., Balog, J., Wohlgemuth, M., Auranen, M., Mitsuhashi, S., van der Vliet, P. J., Straasheijm, K. R., van den Akker, R. F. P., Kriek, M., Laurense-Bik, M. E. Y., Raz, V., van Ostaijen-ten Dam, M. M., Hansson, K. B. M., van der Kooi, E. L., Kiuru-Enari, S. M. K., Udd, B., van Tol, M. J. D., Nishino, I. & Tawil, R. & 3 others, Tapscott, S. J., van Engelen, B. G. M. & van der Maarel, S. M., 5 May 2016, In: American Journal of Human Genetics. 98, 5, p. 1020-1029 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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

  Pihlamaa, T., Salmi, T., Suominen, S. & Kiuru-Enari, S. M. K., May 2016, In: Muscle & Nerve. 53, 5, p. 762-769 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2015

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

  Auranen, M., Ylikallio, E., Scherbii, M., Paetau, A., Kiuru-Enari, S., Toppila, J. P. & Tyynismaa, H. R. S., 14 Apr 2015, In: Neurology Genetics. 1, 1

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

• Natural course of Finnish gelsolin amyloidosis

  Nikoskinen, T., Schmidt, E.-K., Strbian, D., Kiuru-Enari, S. & Atula, S., 2015, In: Annals of Medicine. 47, 6, p. 506-511 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  Palmio, J., Jonson, P. H., Evilä, A., Auranen, M., Straub, V., Bushby, K., Sarkozy, A., Kiuru-Enari, S., Sandell, S., Pihko, H., Hackman, P. & Udd, B., Nov 2015, In: Neuromuscular Disorders. 25, 11, p. 835-842 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Relation of gelsolin amyloidosis and periodontal health

  Juusela, P. L., Persson, R. G., Nieminen, A. R., Kiuru-Enari, S. M. & Uitto, V.-J., Mar 2015, In: Clinical Oral Investigations. 19, 2, p. 229-235 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2014

  Screening for late-onset Pompe disease in Finland

  Palmio, J., Auranen, M., Kiuru-Enari, S., Löfberg, M., Bodamer, O. & Udd, B., Nov 2014, In: Neuromuscular Disorders. 24, 11, p. 982-985 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  Kantanen, M., Kiuru-Enari, S., Salonen, O., Kaipainen, M. & Hokkanen, L., 2014, In: PeerJ. 2, 16 p., e493.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• 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, J. S., Kiuru-Enari, S., Auranen, M., Pajunen, L. & Tyynismaa, H., Apr 2014, In: European Journal of Human Genetics. 22, 4, p. 522-527 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2013

  Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR) mutations

  Heliö, T. M., Götz, A., Rapola, J., Kiuru-Enari, S., Kivistö, S., Heikinheimo, T. & Suomalainen, A., 2013, In: Cardiogenetics. 3, 1, p. 31-37 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• 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., May 2013, In: Neurogenetics. 14, 2, p. 123-132 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Xerostomia in hereditary gelsolin amyloidosis

  Juusela, P., Tanskanen, M., Nieminen, A., Kari, K., Suominen, L., Uitto, V.-J. & Kiuru-Enari, S., Mar 2013, In: Amyloid. 20, 1, p. 39-44 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2012

  Familial amyloidotic polyneuropathy type IV - gelsolin amyloidosis

  Pihlamaa, T., Suominen, S. & Kiuru-Enari, S., 2012, In: Amyloid. 19, Suppl. 1, p. 30-33 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 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. & de Visser, M., 1 Oct 2012, In: Neuromuscular Disorders. 22, 2, p. S130-S136 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2011

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

  Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., Pihko, H., Darin, N., Ounap, K., Kluijtmans, L. A. J., Paetau, A., Buzkova, J., Bindoff, L. A., Annunen-Rasila, J., Uusimaa, J. & Rissanen, A. & 5 others, Yki-Järvinen, H., Hirano, M., Tulinius, M., Smeitink, J. & Tyynismaa, H., 2011, In: Lancet Neurology. 10, 9, p. 806-818 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Gelsolin Amyloidosis as a Cause of Early Aging and Progressive Bilateral Facial Paralysis

  Pihlamaa, T., Rautio, J., Kiuru-Enari, S. & Suominen, S., 2011, In: Ophthalmic Plastic and Reconstructive Surgery. 127, 6, p. 2342-2351 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Verikokeella testattava FGF21 on mitokondriotautien uusi merkkiaine

  Suomalainen Wartiovaara, A., Elo, J., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M. P., Isohanni, P., Marjavaara, S., Tyni, T., Kiuru-Enari, S. M. K., Pihko, H., Darin, N., Õunap, K., Kluijtmans , L. A. J., Paetau, A., Buzkova, J., Bindoff, L. A., Annunen-Rasila, J., Uusimaa , J. & Rissanen, A. & 5 others, Yki-Järvinen, H., Hirano , M., Tulinius , M., Smeitink , J. A. & Tyynismaa, H., 2011, In: Duodecim. 127, 20, p. 2180 1 p.

  Research output: Contribution to journal › Article › Professional

• 2010

  A new distal myopathy with mutation in anoctamin 5

  Mahjneh, I., Jaiswal, J., Lamminen, A., Somer, M., Marlow, G., Kiuru-Enari, S. & Bashir, R., 2010, In: Neuromuscular Disorders. 20, 12, p. 791-795 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Clinical features of facioscapulohumeral muscular dystrophy 2

  de Greef, J. C., Lemmers, R. J. L. F., Camano, P., Day, J. W., Sacconi, S., Dunand, M., van Engelen, B. G. M., Kiuru-Enari, S., Padberg, G. W., Rosa, A. L., Desnuelle, C., Spuler, S., Tarnopolsky, M., Venance, S. L., Frants, R. R., van der Maarel, S. M. & Tawil, R., 2010, In: Neurology. 75, 17, p. 1548-1554 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Investigation of AGE, their receptor and NF-kappa B activation and apoptosis in patients with ATTR and Gelsolin amyloidosis

  Anan, I., Kiuru-Enari, S. M. K., Obayashi, K., Ranlov, P. J. & Ando, Y., 2010, In: Histology and Histopathology. 25, 6, p. 691-699 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

• Perinnöllinen gelsoliiniamyloidoosi: 40 vuotta Meretojan tautia

  Kiuru-Enari, S. M. K. & Haltia, M., 2010, In: Duodecim. 126, 10, p. 1162-1171 10 p.

  Research output: Contribution to journal › Article › Professional

• Perinnöllinen Meretojan tauti: Runsas oirekirjo heikentää elämänlaatua ja lisää terveyspalvelujen käyttöä

  Translated title of the contribution: Hereditary gelsolin amyloidosis:: questionnaire survey of clinical manifestations and satisfaction with lifeLaine, A., Notkola, I.-L. & Kiuru-Enari, S. M. K., 2010, In: Suomen lääkärilehti. 65, 16, p. 1417-1424 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2009

  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, M. P., Paetau, A., Löfberg, M. I., Timonen, M. H., Lamminen, A. E. & Kiuru-Enari, S. M. K., 2009, In: Muscle & Nerve. 40, 1, p. 143-148 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Hereditary gelsolin amyloidosis mimicking Sjogren's syndrome

  Juusela, P., Tanskanen, M., Nieminen, A., Uitto, V.-J., Blafield, H. & Kiuru-Enari, S., 2009, In: Clinical Rheumatology. 28, p. 1351-1354 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Hereditary gelsolin amyloidosis mimicking Sjögren’s syndrome

  Juusela, P., Tanskanen, M., Uitto, V.-J., Blåfield, H. & Kiuru-Enari, S. M. K., 28 Nov 2009, In: Clinical Rheumatology. 28, p. 1351-4

  Research output: Contribution to journal › Article › Scientific › peer-review

• Outcome of renal transplant in hereditary gelsolin amyloidosis

  Shoja, M. M., Ardalan, M. R., Tubbs, S., Kiuru-enari, S. & Kiuru-Enari, S., 2009, In: American Journal of the Medical Sciences. 337 (2009), p. 370-372 3 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2008

  Neuromuskulaaritautien diagnostiikka ja hoitoketjut

  Korpela, M., Löfberg, M., Pihko, H., Lönnqvist, T., Paetau, A., Salmi, T., Lamminen, A., Kock, T. & Kiuru-Enari, S., 2008, In: Suomen lääkärilehti. 63, 37, p. 2997-3004 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 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, I.-L., Sulkava, R., Hardy, J., Singleton, A., Kiuru-Enari, S., Paetau, A., Tienari, P. J. & Myllykangas, L., 2008, In: Annals of Medicine. 40, 3, p. 232-239 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med 2008; 40: 232-9

  Tanskanen, M., Peuralinna, T., Polvikoski, T., Notkola, I.-L., Hardy, J., Singleton, A., Kiuru-Enari, S. M. K., Paetau, A., Tienari, P. & Myllykangas, L. T., 2008, In: Annals of Medicine. 40, p. 232-9

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2007

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

  Ardalan, M. R., Shoja, M. M. & Kiuru-Enari, S., 2007, In: Nephrology, Dialysis, Transplantation. 22, 1, p. 272-275 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Patients with a non-dysferlin miyoshi myopathy have a novel membrane repair defect

  Jaiswal, J. K., Marlow, G., Summerill, G., Mahjneh, I., Mueller, S., Hill, M., Miyake, K., Haase, H., Anderson, L. V. B., Richard, I., Kiuru-Enari, S., McNeil, P. L., Simon, S. M., Bashir, R. & Kiuru-Enari, S., 2007, In: Traffic. 8, 1, p. 77-88 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  Tanskanen, M., Paetau, A., Salonen, O., Salmi, T., Lamminen, A., Somer, H. V. K. & Kiuru-Enari, S. M. K., 2007, In: Amyloid. 14, 1, p. 89-95 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2006

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

  Tanskanen, M., Kiuru-Enari, S., Tienari, P. J., Polvikoski, T., Verkkoniemi, A., Rastas, S., Sulkava, R. & Paetau, A., 2006, In: Amyloid. 13, p. 164-169 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

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

  Tanskanen, M., Kiuru-Enari, S. M. K., Tienari, P., Polvikoski, T., Verkkoniemi, A., Rastas, S., Sulkava, R. & Paetau, A., 2006, In: Amyloid. 13, p. 164-9

  Research output: Contribution to journal › Article › Scientific › peer-review

• 2005

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

  Tanskanen, M., Lindsberg, P., Tienari, P., Polvikoski, T., Sulkava, R., Verkkoniemi, A., Rastas, S., Paetau, A. & Kiuru-Enari, S. M. K., 2005, In: Neuropathology and Applied Neurobiology. 31, 6, p. 589-599 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Cutis laxa in hereditary gelsolin amyloidosis

  Kiuru-Enari, S., Keski-Oja, J. & Haltia, M., 2005, In: British Journal of Dermatology. 152, 2, p. 250-257 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review