Blar i Department of Clinical Medicine på forfatter "Bindoff, Laurence"
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Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
De Vries, Maaike C.; Brown, David A.; Allen, Mitchell E.; Bindoff, Laurence; Gorman, Gráinne S.; Karaa, Amel; Keshavan, Nandaki; Lamperti, Costanza; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D. S.; Rahman, Shamima; Russel, Frans G. M.; Varhaug, Kristin Nielsen; Schirris, Tom J. J.; Mancuso, Michelangelo (Journal article; Peer reviewed, 2020)Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary ... -
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 (Journal article; Peer reviewed, 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 ... -
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos (Peer reviewed; Journal article, 2014-01-22)Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial ... -
Using urine to diagnose large-scale mtDNA deletions in adult patients
Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence (Journal article; Peer reviewed, 2020)Objective: The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods: Eleven adult patients with progressive ...