Search Results - "Löfberg, Mervi"

Complete remission of central nervous system manifestations of IgG4-related disease with rituximab – a case report by Sihvonen, Aleksi J., Laakso, Sini M., Tynninen, Olli, Saaren-Seppälä, Heikki, Löfberg, Mervi

“…IgG4-related disease (IgG4-RD) is an emerging immune-mediated chronic fibrotic disease characterized by tumour-like mass formation. Reports of brain…”
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Screening for late-onset Pompe disease in Finland by Palmio, Johanna, Auranen, Mari, Kiuru-Enari, Sari, Löfberg, Mervi, Bodamer, Olaf, Udd, Bjarne

“…Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is…”
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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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Molecular characterization of McArdle’s disease in two large Finnish families by Bruno, Claudio, Löfberg, Mervi, Tamburino, Lucia, Jänkälä, Heidi, Hadjigeorgiou, George M, Andreu, Antonio L, Shanske, Sara, Somer, Hannu, DiMauro, Salvatore

“…We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle’s disease). In one, we identified a new nonsense mutation at…”
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Decreased Aerobic Capacity in ANO5-Muscular Dystrophy by Ylikallio, Emil, Auranen, Mari, Mahjneh, Ibrahim, Lamminen, Antti, Kousi, Maria, Träskelin, Ann-Liz, Muurinen, Tiina, Löfberg, Mervi, Salmi, Tapani, Paetau, Anders, Lehesjoki, Anna-Elina, Piirilä, Päivi, Kiuru-Enari, Sari

“…Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously…”
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Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy by Argov, Zohar, Löfberg, Mervi, Arnold, Douglas L.

“…Phosphorus magnetic resonance spectroscopy (P‐MRS) has now been used in the investigation of muscle energy metabolism in health and disease for over 15 years…”
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Complete remission of central nervous system manifestations of IgG4-related disease with rituximab - a case report by Sihvonen, Aleksi J, Laakso, Sini M, Tynninen, Olli, Saaren-Seppälä, Heikki, Löfberg, Mervi

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Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms by Lindholm, Harri, Löfberg, Mervi, Somer, Hannu, Näveri, Hannu, Sovijärvi, Anssi

“…Summary Study objectives:  Muscle is one of the most commonly affected organs in mitochondrial disorders, and the symptoms are often exercise related. The…”
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ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle’s disease by Löfberg, Mervi, Lindholm, Harri, Näveri, Hannu, Majander, Anna, Suomalainen, Anu, Paetau, Anders, Sovijärvi, Anssi, Härkönen, Matti, Somer, Hannu

“…We studied exercise-induced changes in the adenosine triphosphate (ATP), phosphocreatine (PCr), and lactate levels in the skeletal muscle of mitochondrial…”
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Antimyosin scintigraphy compared with MRI in inflammatory myopathies by Löfberg, Mervi, Liewendahl, Kristian, Lamminen, Antti, Somer, Hannu

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Serum gelsolin and rhabdomyolysis by Löfberg, Mervi, Paunio, Tiina, Tähtelä, Riitta, Kiuru, Sari, Somer, Hannu

“…We measured the serum gelsolin, actin-modulating protein, levels in five patients after rhabdomyolysis. We observed a tendency of serum gelsolin (83 kDa) to…”
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Antimyosin scintigraphy compared with magnetic resonance imaging in inflammatory myopathies by Löfberg, M, Liewendahl, K, Lamminen, A, Korhola, O, Somer, H

“…To compare indium In 111 altumomab pentetate-labeled antimyosin scintigraphy with magnetic resonance imaging (MRI) in the diagnosis and follow-up of patients…”
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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.

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Myosin heavy-chain fragments and cardiac troponins in the serum in rhabdomyolysis. Diagnostic specificity of new biochemical markers by Löfberg, M, Tähtelä, R, Härkönen, M, Somer, H

“…Myosin is the major structural protein in muscle. Antibodies to beta-type heavy meromyosin react with cardiac and slow-twitch skeletal muscle. Cardiac TnT and…”
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