Blar i NTNU Open på forfatter "Rahman, Shamima"
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Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Kristensen, Erle; Mathisen, Linda; Berland, Siren; Klingenberg, Claus Andreas; Brodtkorb, Eylert; Rasmussen, Magnhild; Tangeraas, Trine; Bliksrud, Yngve Thomas; Rahman, Shamima; Bindoff, Laurence Albert; Hikmat, Omar (Journal article; Peer reviewed, 2024)Objective To investigate the prevalence and natural history of POLG disease in the Norwegian population. Methods A national, population-based, retrospective study using demographic, clinical, and genetic data of ... -
The impact of gender, puberty, and pregnancy in patients with POLG disease
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Peer reviewed; Journal article, 2020)Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected ... -
The impact of gender, puberty, and pregnancy in patients with POLG disease
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Peer reviewed; Journal article, 2020)Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected ... -
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Østergaard, Elsebet; de Coo, Irenaeus F.M.; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Peer reviewed; Journal article, 2020)Background Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in ... -
Status epilepticus in POLG disease: a large multinational study
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus Andreas; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2024)We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. ...