Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Mervi Löfberg"'
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 16 (2023)
IgG4-related disease (IgG4-RD) is an emerging immune-mediated chronic fibrotic disease characterized by tumour-like mass formation. Reports of brain parenchymal involvement in IgG4-RD are rare and complete treatment-related remission of lesions has n
Externí odkaz:
https://doaj.org/article/1f80d3ec2c2d403a8665451b368d90dc
Autor:
Mari Auranen, Tapani Salmi, Anders Paetau, Antti Lamminen, Mervi Löfberg, A. Pohju, Rikke Katrine Jentoft Olsen, Signe Mosegaard, Päivi Piirilä, Tiina Tyni
Publikováno v:
Auranen, M, Paetau, A, Piirila, P, Pohju, A, Salmi, T, Lamminen, A, Lofberg, M, Mosegaard, S, Olsen, R K & Tyni, T 2017, ' Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy ', Neuromuscular Disorders, vol. 27, no. 6, pp. 581-584 . https://doi.org/10.1016/j.nmd.2017.03.003
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f623533f87b5345ac305948da11d4d14
http://hdl.handle.net/10138/297845
http://hdl.handle.net/10138/297845
Autor:
Tapani Salmi, Ibrahim Mahjneh, Mari Auranen, Tiina Muurinen, Ann-Liz Träskelin, Anna-Elina Lehesjoki, Anders Paetau, Mervi Löfberg, Maria Kousi, Emil Ylikallio, Päivi Piirilä, Sari Kiuru-Enari, Antti Lamminen
Publikováno v:
ResearcherID
Background Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting. Objective To characterize oxidative capaci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27943dc978115071a97beb572630d7b7
http://hdl.handle.net/10138/184157
http://hdl.handle.net/10138/184157
Publikováno v:
Neuromuscular disorders : NMD. 24(11)
Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA gene. The estimated frequency of late-onset Pompe disease is around 1:60,000. However, only two infantile and one late-onset Pompe patients have been r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::893f0fa52c41a768a8250c6698149591
https://pubmed.ncbi.nlm.nih.gov/25047669
https://pubmed.ncbi.nlm.nih.gov/25047669
Publikováno v:
Muscle & Nerve. 23:1316-1334
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. The present review describes the basics of the metabolic observations made by P-MRS includi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17a854eac22faf585e3d529430cc44c6
https://doi.org/10.1002/1097-4598(200009)23:9<1316::aid-mus2>3.0.co
https://doi.org/10.1002/1097-4598(200009)23:9<1316::aid-mus2>3.0.co
Autor:
Heidi Jänkälä, Sara Shanske, Claudio Bruno, G. M. Hadjigeorgiou, Mervi Löfberg, Antonio L. Andreu, Hannu Somer, Salvatore DiMauro, Lucia Tamburino
Publikováno v:
Journal of the Neurological Sciences. 165:121-125
We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f8bcde2eec16aff2e5cfa496f2e94f
https://doi.org/10.1016/s0022-510x(99)00091-x
https://doi.org/10.1016/s0022-510x(99)00091-x
Publikováno v:
Acta Neurologica Scandinavica. 98:268-275
Objectives - The aim of the study was to evaluate the biochemical causes of recurrent rhabdomyolysis in Finland. Material and methods - We examined 22 patients with recurrent rhabdomyolysis, and 26 patients with one episode of rhabdomyolysis or other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51d11af8c84e1a02d5ed18feaffa3a8
https://doi.org/10.1111/j.1600-0404.1998.tb07307.x
https://doi.org/10.1111/j.1600-0404.1998.tb07307.x
Publikováno v:
Clinical physiology and functional imaging. 24(2)
Summary Study objectives: Muscle is one of the most commonly affected organs in mitochondrial disorders, and the symptoms are often exercise related. The cardiopulmonary exercise test with the determination of lactic acid formation could give supplem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0fabd9da13f86b2e1fabcb300ab341a
https://pubmed.ncbi.nlm.nih.gov/15056184
https://pubmed.ncbi.nlm.nih.gov/15056184
ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease
Autor:
Anu Suomalainen, Anssi Sovijärvi, Hannu Somer, Matti Härkönen, Mervi Löfberg, Hannu Näveri, Anders Paetau, Harri Lindholm, Anna Majander
Publikováno v:
Neuromuscular disorders : NMD. 11(4)
We studied exercise-induced changes in the adenosine triphosphate (ATP), phosphocreatine (PCr), and lactate levels in the skeletal muscle of mitochondrial patients and patients with McArdle's disease. Needle muscle biopsy specimens for biochemical me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7ca4287b8ea048ce34b75754980e9be
https://pubmed.ncbi.nlm.nih.gov/11369188
https://pubmed.ncbi.nlm.nih.gov/11369188
Publikováno v:
Archives of neurology. 55(7)
Objective: To compare indium In 111 altumomab pentetate‐labeled antimyosin scintigraphy with magnetic resonance imaging (MRI) in the diagnosis and follow-up of patients with myositis. Design and Methods: Sixteen patients with polymyositis and 1 pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98019dba3c98f84b2ad921f027e4d34e
https://pubmed.ncbi.nlm.nih.gov/9678317
https://pubmed.ncbi.nlm.nih.gov/9678317