Search Results - "Kiuru, Sari"

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

“…Senile systemic amyloidosis (SSA) is characterized by deposition of wild-type transthyretin (TTR)-based amyloid in parenchymal organs in elderly individuals…”
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Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis by Pihlamaa, Tiia, Salmi, Tapani, Suominen, Sinikka, Kiuru-Enari, Sari

“…ABSTRACT Introduction Hereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal…”
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Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study by Schmidt, Eeva-Kaisa, Mustonen, Tuuli, Kiuru-Enari, Sari, Kivelä, Tero T, Atula, Sari

“…Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive…”
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Natural course of Finnish gelsolin amyloidosis by Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa, Strbian, Daniel, Kiuru-Enari, Sari, Atula, Sari

“…Finnish type of hereditary gelsolin amyloidosis (FGA) is one of the most common diseases of Finnish disease heritage. Existing FGA knowledge is based only on…”
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Hearing problems in patients with hereditary gelsolin amyloidosis by Mustonen, Tuuli, Sivonen, Ville, Atula, Sari, Kiuru-Enari, Sari, Sinkkonen, Saku T

“…Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous…”
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A novel mutation of the GAA gene in a Finnish late‐onset pompe disease patient: Clinical phenotype and follow‐up with enzyme replacement therapy by Korpela, Mari P., Paetau, Anders, Löfberg, Mervi I., Timonen, Marjut H., Lamminen, Antti E., Kiuru‐Enari, Sari M.K.

“…Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α‐glucosidase (GAA) enzyme. Herein we report the…”
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Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide by Kiuru, Sari

“…Gelsolin-related familial amyloidosis, Finnish type, occurs worldwide, most likely as a result of sporadic low-frequency mutations. Two mutations at nucleotide…”
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Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland by Auranen, Mari, Ylikallio, Emil, Toppila, Jussi, Somer, Mirja, Kiuru-Enari, Sari, Tyynismaa, Henna

“…We describe a founder mutation in the gene encoding ganglioside-induced differentiation associated-protein 1 ( GDAP1 ), leading to amino acid change p.H123R,…”
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Gelsolin-related spinal and cerebral amyloid angiopathy by Kiuru, Sari, Salonen, Oili, Haltia, Matti

“…Gelsolin‐related amyloidosis (familial amyloidosis, Finnish type) is a rare disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene…”
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Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis) by Kantanen, Mari, Kiuru-Enari, Sari, Salonen, Oili, Kaipainen, Markku, Hokkanen, Laura

“…Hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant form of systemic amyloidosis caused by a c.640G>A or c.640G>T mutation in the gene…”
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Gelsolin amyloid angiopathy causes severe disruption of the arterial wall by Koskelainen, Susanna, Pihlamaa, Tiia, Suominen, Sinikka, Zhao, Fang, Salo, Tuula, Risteli, Juha, Baumann, Marc, Kalimo, Hannu, Kiuru-Enari, Sari

“…Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological,…”
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study by 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

“…Summary Background Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders because of the lack of sensitive biomarkers in serum. Fibroblast…”
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Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis by Kiuru, S, Javela, K, Somer, H, Kekomäki, R

“…Hereditary gelsolin-related amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T mutation in the gene coding for gelsolin, an…”
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Neuromuscular Pathology in Hereditary Gelsolin Amyloidosis by KIURU-ENARI, SARI, SOMER, HANNU, SEPPÄLÄINEN, ANNA-MARIA, NOTKOLA, IRMA-LEENA, HALTIA, MATTI

“…Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation. The…”
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Atrial Fibrillation Is Poorly Tolerated by Patients with Hypertrophic Concentric Cardiomyopathy Caused by Mitochondrial tRNALeu (UUR) Mutations by Heliö, Tiina, Götz, Alexandra, Rapola, Janne, Kiuru-Enari, Sari, Kivistö, Sari, Heikinheimo, Terttu, Suomalainen, Anu

“…Knowledge on the molecular background of mitochondrial disorders has accumulated during the past two decades, but clinical and molecular features of…”
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Relation of gelsolin amyloidosis and periodontal health by Juusela, Pirjo L., Persson, Rutger G., Nieminen, Anja R., Kiuru-Enari, Sari M., Uitto, Veli-Jukka

“…Objective Hereditary gelsolin amyloidosis (AGel amyloidosis) is a rare, dominantly inherited systemic disease with worldwide distribution, caused by a gelsolin…”
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Patients with a Non‐dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect by 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

“…Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin…”
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Hereditary gelsolin amyloidosis mimicking Sjögren’s syndrome by Juusela, Pirjo, Tanskanen, Maarit, Nieminen, Anja, Uitto, Veli-Jukka, Blåfield, Harri, Kiuru-Enari, Sari

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Hereditary gelsolin amyloidosis by Kiuru-Enari, Sari, Haltia, Matti

“…Hereditary gelsolin amyloidosis (HGA) is an autosomally dominantly inherited form of systemic amyloidosis, characterized mainly by cranial and sensory…”
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy by 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.

“…Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4…”
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