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, Maarit, Peuralinna, Terhi, Polvikoski, Tuomo, Notkola, Irma-Leena, Sulkava, Raimo, Hardy, John, Singleton, Andrew, Kiuru-Enari, Sari, Paetau, Anders, Tienari, Pentti J, Myllykangas, Liisa
Published in Annals of medicine (Helsinki) (2008)
Published in Annals of medicine (Helsinki) (2008)
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Journal Article
Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis
Pihlamaa, Tiia, Salmi, Tapani, Suominen, Sinikka, Kiuru-Enari, Sari
Published in Muscle & nerve (01.05.2016)
Published in Muscle & nerve (01.05.2016)
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Journal Article
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, Mari P., Paetau, Anders, Löfberg, Mervi I., Timonen, Marjut H., Lamminen, Antti E., Kiuru‐Enari, Sari M.K.
Published in Muscle & nerve (01.07.2009)
Published in Muscle & nerve (01.07.2009)
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Journal Article
Natural course of Finnish gelsolin amyloidosis
Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa, Strbian, Daniel, Kiuru-Enari, Sari, Atula, Sari
Published in Annals of medicine (Helsinki) (18.08.2015)
Published in Annals of medicine (Helsinki) (18.08.2015)
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Journal Article
Hearing problems in patients with hereditary gelsolin amyloidosis
Mustonen, Tuuli, Sivonen, Ville, Atula, Sari, Kiuru-Enari, Sari, Sinkkonen, Saku T
Published in Orphanet journal of rare diseases (24.10.2021)
Published in Orphanet journal of rare diseases (24.10.2021)
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Journal Article
Gelsolin amyloid angiopathy causes severe disruption of the arterial wall
Koskelainen, Susanna, Pihlamaa, Tiia, Suominen, Sinikka, Zhao, Fang, Salo, Tuula, Risteli, Juha, Baumann, Marc, Kalimo, Hannu, Kiuru-Enari, Sari
Published in APMIS : acta pathologica, microbiologica et immunologica Scandinavica (01.08.2016)
Published in APMIS : acta pathologica, microbiologica et immunologica Scandinavica (01.08.2016)
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Journal Article
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
Auranen, Mari, Ylikallio, Emil, Toppila, Jussi, Somer, Mirja, Kiuru-Enari, Sari, Tyynismaa, Henna
Published in Neurogenetics (01.05.2013)
Published in Neurogenetics (01.05.2013)
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
Suomalainen, Anu, Prof, Elo, Jenni M, MB, Pietiläinen, Kirsi H, MD, Hakonen, Anna H, MD, Sevastianova, Ksenia, MD, Korpela, Mari, MD, Isohanni, Pirjo, MD, Marjavaara, Sanna K, PhD, Tyni, Tiina, MD, Kiuru-Enari, Sari, MD, Pihko, Helena, Prof, Darin, Niklas, MD, Õunap, Katrin, MD, Kluijtmans, Leo AJ, MD, Paetau, Anders, MD, Buzkova, Jana, MSc, Bindoff, Laurence A, Prof, Annunen-Rasila, Johanna, MD, Uusimaa, Johanna, MD, Rissanen, Aila, Prof, Yki-Järvinen, Hannele, Prof, Hirano, Michio, MD, Tulinius, Mar, Prof, Smeitink, Jan, Prof, Tyynismaa, Henna, PhD
Published in Lancet neurology (01.09.2011)
Published in Lancet neurology (01.09.2011)
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Journal Article
Relation of gelsolin amyloidosis and periodontal health
Juusela, Pirjo L., Persson, Rutger G., Nieminen, Anja R., Kiuru-Enari, Sari M., Uitto, Veli-Jukka
Published in Clinical oral investigations (01.03.2015)
Published in Clinical oral investigations (01.03.2015)
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Journal Article
Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect
Jaiswal, Jyoti K., Marlow, Gareth, Summerill, Gillian, Mahjneh, Ibrahim, Mueller, Sebastian, Hill, Maria, Miyake, Katsuya, Haase, Hannelore, Anderson, Louise V. B., Richard, Isabelle, Kiuru‐Enari, Sari, McNeil, Paul L., Simon, Sanford M., Bashir, Rumaisa
Published in Traffic (Copenhagen, Denmark) (01.01.2007)
Published in Traffic (Copenhagen, Denmark) (01.01.2007)
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Journal Article
Neuromuscular Pathology in Hereditary Gelsolin Amyloidosis
KIURU-ENARI, SARI, SOMER, HANNU, SEPPÄLÄINEN, ANNA-MARIA, NOTKOLA, IRMA-LEENA, HALTIA, MATTI
Published in Journal of neuropathology and experimental neurology (01.06.2002)
Published in Journal of neuropathology and experimental neurology (01.06.2002)
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Journal Article
Atrial Fibrillation Is Poorly Tolerated by Patients with Hypertrophic Concentric Cardiomyopathy Caused by Mitochondrial tRNALeu (UUR) Mutations
Heliö, Tiina, Götz, Alexandra, Rapola, Janne, Kiuru-Enari, Sari, Kivistö, Sari, Heikinheimo, Terttu, Suomalainen, Anu
Published in Cardiogenetics (28.06.2013)
Published in Cardiogenetics (28.06.2013)
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Journal Article
Hereditary gelsolin amyloidosis mimicking Sjögren’s syndrome
Juusela, Pirjo, Tanskanen, Maarit, Nieminen, Anja, Uitto, Veli-Jukka, Blåfield, Harri, Kiuru-Enari, Sari
Published in Clinical rheumatology (01.11.2009)
Published in Clinical rheumatology (01.11.2009)
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Journal Article
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis
Schmidt, Eeva-Kaisa, Kiuru-Enari, Sari, Atula, Sari, Tanskanen, Maarit
Published in Amyloid (03.07.2019)
Published in Amyloid (03.07.2019)
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Journal Article
Severe elastolysis in hereditary gelsolin (AGel) amyloidosis
Koskelainen, Susanna, Zhao, Fang, Kalimo, Hannu, Baumann, Marc, Kiuru-Enari, Sari
Published in Amyloid (02.04.2020)
Published in Amyloid (02.04.2020)
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