Blar i Department of Clinical Medicine på tidsskrift "Annals of clinical and translational neurology"

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    • Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 

      Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)
      Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...

    • G1m1 predominance of intrathecal virus-specific antibodies in multiple sclerosis 

      Tomescu-Baciu, Alina; Vartdal, Frode; Holmøy, Trygve; Vedeler, Christian A.; Lossius, Peter Andreas Vold (Peer reviewed; Journal article, 2018-09-17)
      We have previously shown that plasmablasts of the G1m1 allotype of IgG1 are selectively enriched in the cerebrospinal fluid of G1m1/G1m3 heterozygous patients with multiple sclerosis, whereas both allotypes are equally ...

    • Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 

      Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmüller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C.; Straub, Volker (Journal article; Peer reviewed, 2020-04)
      Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital ...

    • 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 (Journal article; Peer reviewed, 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 ...

    • Month of birth and risk of multiple sclerosis: confoundingand adjustments 

      Torkildsen, Øivind Fredvik; Aarseth, Jan Harald; Benjaminsen, Espen; Celius, Elisabeth Gulowsen; Holmøy, Trygve; Kampman, Margitta Theodora; Løken-Amsrud, Kristin Ingeleiv; Midgard, Rune; Myhr, Kjell-Morten; Riise, Trond; Torkildsen, Nina Agnethe Grytten (Peer reviewed; Journal article, 2014-02)
      A month of birth effect on multiple sclerosis (MS) risk has been reported from different countries. Recent critics have suggested that this finding is caused by confounding and that adequately adjusting for year and place ...

    • Selective intrathecal enrichment of G1m1-positive B cells in multiple sclerosis 

      Lossius, Peter Andreas Vold; Tomescu-Baciu, Alina; Holmøy, Trygve; Vedeler, Christian A.; Røsjø, Egil Rørvik; Lorentzen, Åslaug Rudjord; Casetta, Ilaria; Vartdal, Frode (Peer reviewed; Journal article, 2017-10)
      Immunoglobulin gamma (IgG) heavy chain genes are associated with susceptibility to multiple sclerosis (MS) and IgG levels in the cerebrospinal fluid (CSF). However, how these variants are implicated in disease mechanisms ...

    • 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 ...