Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Øivind Nilssen"'
Autor:
Maisoon Alhamidi, Elisabeth Kjeldsen Buvang, Toril Fagerheim, Vigdis Brox, Sigurd Lindal, Marijke Van Ghelue, Øivind Nilssen
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e22968 (2011)
Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Conge
Externí odkaz:
https://doaj.org/article/81cd612059c64b5cb2877c30251210fd
Autor:
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
Publikováno v:
Brain. 146:912-922
We describe five families from different regions in Norway with a late-onset autosomal-dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously been described in infants with au
Publikováno v:
Lysosomal Storage Disorders. :203-210
Autor:
Øivind Nilssen, Christoffer Jonsrud, Maria Nebuchenykh, S. Løseth, Kai Ivar Müller, Marijke Van Ghelue, Kjell Arne Arntzen, Gry Hoem
Publikováno v:
Neuromuscular Disorders. 32:75-79
We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father w
Autor:
Synnøve M. Jensen, Kai Ivar Müller, Svein Ivar Mellgren, Laurence A. Bindoff, Magnhild Rasmussen, Kristin Ørstavik, Christoffer Jonsrud, Kristian Tveten, Øivind Nilssen, Marijke Van Ghelue, Kjell Arne Arntzen
Publikováno v:
Neuromuscular Disorders
We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figur
Autor:
Nanna Dahl Rendtorff, Øivind Nilssen, Pernille Mathiesen Tørring, Marika F. Moldenæs, Lone Sandbjerg Hindbæk, Lisbeth Tranebjærg
Publikováno v:
Moldenæs, M F, Rendtorff, N D, Hindbæk, L S, Tørring, P M, Nilssen, Ø & Tranebjærg, L 2021, ' Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome ', European Journal of Medical Genetics, vol. 64, no. 9, 104265 . https://doi.org/10.1016/j.ejmg.2021.104265
The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a5f8b73c9b80a737751145219db75a4
https://hdl.handle.net/10037/22718
https://hdl.handle.net/10037/22718
Autor:
M. Nebuchenykh, S. Løseth, Kai Ivar Müller, Kjell Arne Arntzen, Christoffer Jonsrud, M. Van Ghelue, Øivind Nilssen, G. Hoem
Publikováno v:
Neuromuscular Disorders. 31:S122-S123
Aims: Limb-girdle muscular dystrophy R9 (LGMDR9) is an autosomal recessive disorder caused by mutations in the fukutin-related protein gene (FKRP), encoding a glycosyltransferase involved in α-dystroglycan modification. Muscle atrophy, a significant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0e662807c434ae04d60b8481ceb1884
https://hdl.handle.net/10037/25267
https://hdl.handle.net/10037/25267
Autor:
Pirkko Heikinheimo, Elina Kuokkanen, Øivind Nilssen, Helle Bagterp Klenow, Elisabeth Kjeldsen Buvang, Hilde Monica Frostad Riise Stensland, Dag Malm, Gabrio Frantzen
Publikováno v:
Human Mutation. 36(6):581-586
α-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the MAN2B1 gene, encoding lysosomal α-mannosidase. The disorder is characterized by a range of clinical phenotypes of which the major manifestations are ment
Autor:
B. Nygård, Christoffer Jonsrud, Geir Åsmund Myge Hansen, Øivind Nilssen, Kristin Ørstavik, Toril Fagerheim, Magnhild Rasmussen, M. Van Ghelue, Kjell Arne Arntzen
Publikováno v:
Neuromuscular Disorders. 29:S181