Gene expression profiling of meningiomas: current status after a decade of microarray-based transcriptomic studies

Por Aarhus, Mads, Lund-Johansen, Morten, Knappskog, Per Morten
Publicado em 2011

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Por Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A.
Publicado em 2013

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

Por Lozic, Bernarda, Johansson, Stefan, Lovric Kojundzic, Sanja, Markic, Josko, Knappskog, Per Morten, Hahn, Angelika F., Boman, Helge
Publicado no Ann Clin Transl Neurol (2016)

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Por Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A
Publicado em 2013

Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

Por Wedding, Iselin Marie, Kroken, Mette, Henriksen, Sandra Pilar, Selmer, Kaja Kristine, Fiskerstrand, Torunn, Knappskog, Per Morten, Berge, Tone, Tallaksen, Chantal ME
Publicado no Orphanet J Rare Dis (2015)

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

Por Tzoulis, Charalampos, Zayats, Tetyana, Knappskog, Per Morten, Müller, Bernd, Larsen, Jan Petter, Tysnes, Ole-Bjørn, Bindoff, Laurence A., Johansson, Stefan, Haugarvoll, Kristoffer
Publicado no Proc Natl Acad Sci U S A (2015)

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Por Haugarvoll, Kristoffer, Johansson, Stefan, Rodriguez, Carlos E., Boman, Helge, Haukanes, Bjørn Ivar, Bruland, Ove, Roque, Francisco, Jonassen, Inge, Blomqvist, Maria, Telstad, Wenche, Månsson, Jan-Eric, Knappskog, Per Morten, Bindoff, Laurence A.
Publicado no PLoS One (2017)