Search Results - "Moslemi, A.‐R."

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1 by Darin, N., Hedberg‐Oldfors, C., Kroksmark, A.‐K., Moslemi, A.‐R., Kollberg, G., Oldfors, A.

“…Background and purpose Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1…”
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Mitochondrial abnormalities in inclusion-body myositis by Oldfors, A, Moslemi, A R, Jonasson, L, Ohlsson, M, Kollberg, G, Lindberg, C

“…Mitochondrial changes are frequently encountered in sporadic inclusion-body myositis (s-IBM). Cytochrome c oxidase (COX)-deficient muscle fibers and…”
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Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I by Darin, N, Kroksmark, A.-K, Åhlander, A.-C, Moslemi, A.-R, Oldfors, A, Tulinius, M

“…Abstract Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene ( FKRP ), is one of the most common forms of…”
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Ophthalmological findings in children and young adults with genetically verified mitochondrial disease by Grönlund, M A, Honarvar, A K Seyedi, Andersson, S, Moslemi, A R, Oldfors, A, Holme, E, Tulinius, M, Darin, N

“…To describe ophthalmological phenotypes in patients with mitochondrial disease and known genotypes. A retrospective study was performed on 59 patients (29…”
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MELAS syndrome in a patient with a point mutation in MTTS1 by Lindberg, C., Moslemi, A.-R., Oldfors, A.

“…Background, Objective and Methods –  We describe a female patient with a mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes syndrome. As a…”
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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1 by Moslemi, A-R, Darin, N, Tulinius, M, Wiklund, L-M, Holme, E, Oldfors, A

“…Complex I of the oxidative phosphorylation system is composed of at least 45 subunits, seven of which are encoded by mitochondrial DNA (mtDNA). In this study…”
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Two new mutations in the MTATP6 gene associated with Leigh syndrome by Moslemi, A-R, Darin, N, Tulinius, M, Oldfors, A, Holme, E

“…In this study we have analyzed the mtDNA encoded ATPase 6 and 8 genes ( MTATP6 and MTATP8) in two children with Leigh syndrome (LS) and reduced Mg (2+) ATPase…”
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Inclusion Body Myositis: Clonal Expansions of Muscle‐Infiltrating T Cells Persist Over Time by Müntzing, K., Lindberg, C., Moslemi, A.‐R., Oldfors, A.

“…Inclusion body myositis (IBM) is a chronic inflammatory myopathy. The muscle histology is characterized by infiltration of T cells, which invade and apparently…”
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SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency by MOSLEMI, A.-R, TULINIUS, M, DARIN, N, AMAN, P, HOLME, E, OLDFORS, A

“…Leigh syndrome (LS) is one of the most frequent forms of mitochondrial disease in infancy and childhood. Mutations in SURF1 have been shown to be an important…”
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Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene by Darin, N, Kollberg, G, Moslemi, A-R, Tulinius, M, Holme, E, Grönlund, M Andersson, Andersson, S, Oldfors, A

“…We describe a second patient with the 583G>A mutation in the tRNA(phe) gene of mitochondrial DNA (mtDNA). This 17-year-old girl had a mitochondrial myopathy…”
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Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency by Darin, N, Moslemi, A-R, Lebon, S, Rustin, P, Holme, E, Oldfors, A, Tulinius, M

“…Cytochrome c oxidase (COX) deficiency has been associated with a wide spectrum of clinical features and may be caused by mutations in different genes of both…”
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Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions by MOSLEMI, A.-R, MELBERG, A, HOLME, E, OLDFORS, A

“…To relate signs and symptoms to morphologic changes and presence of multiple mitochondrial DNA (mtDNA) deletions in a patient with autosomal dominant…”
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A western blot and molecular genetic investigation of the estrogen receptor beta in giant cell arteritis by LARSSON, K, NORDBORG, C, MOSLEMI, A.-R, NORDBORG, E

“…The epidemiology of giant cell arteritis (GCA) may indicate a pathogenetic relationship between GCA and female sex hormone metabolism; GCA is two to four times…”
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Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia by Moslemi, A R, Melberg, A, Holme, E, Oldfors, A

“…Sporadic progressive external ophthalmoplegia and Kearns-Sayre syndrome are usually associated with single large-scale mitochondrial DNA deletions in muscle…”
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Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations by Roos, S, Lindgren, U, Ehrstedt, C, Moslemi, A.R, Oldfors, A

“…Abstract The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary…”
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A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy by Moslemi, A-R, Lindberg, C, Toft, J, Holme, E, Kollberg, G, Oldfors, A

“…We report a novel heteroplasmic T-->C mutation at nt position 582 within the mitochondrial tRNA(Phe) gene of a 70-year-old woman with mitochondrial myopathy…”
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Mitochondrial DNA deletions in muscle fibers in inclusion body myositis by Oldfors, A, Moslemi, A R, Fyhr, I M, Holme, E, Larsson, N G, Lindberg, C

“…Inclusion body myositis (IBM) is an autoimmune, inflammatory myopathy where morphological changes of muscle, including ragged red fibers, have indicated…”
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Estrogen receptor α in giant cell arteritis : A molecular genetic study by PETURSDOTTIR, V, MOSLEMI, A.-R, PERSSON, M, NORDBORG, E, NORDBORG, C

“…Giant cell arteritis (GCA) predominantly affects postmenopausal women. Estrogen receptor alpha (ER alpha) accumulates in the cytoplasm of smooth muscle cells,…”
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Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC by Pokrzywa, Malgorzata, Norum, Michaela, Lengqvist, Johan, Ghobadpour, Mehrnaz, Abdul-Hussein, Saba, Moslemi, Ali-Reza, Tajsharghi, Homa

“…An essential role for embryonic MyHC in foetal development has been found from its association with distal arthrogryposis syndromes, a heterogeneous group of…”
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Limited T-cell receptor V gene usage in inclusion body myositis by Fyhr, I M, Moslemi, A R, Tarkowski, A, Lindberg, C, Oldfors, A

“…Inclusion body myositis (IBM) is a chronic, progressive inflammatory myopathy. The inflammatory infiltrates are dominated by T cells, which frequently invade…”
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