Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Christoffer, Jonsrud"'
Autor:
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, Paul Hoff Backe, Trine Tangeraas, Magnhild Rasmussen, Erle Kristensen, Marijke Van Ghelue, Christoffer Jonsrud, Yngve Thomas Bliksrud
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 193-198 (2022)
Abstract Mitochondrial trifunctional protein (MTP) deficiency is an ultrarare hereditary recessive disorder causing a broad spectrum of phenotypes with lethal infantile cardiomyopathy at the most severe end. Attenuated forms with polyneuropathy have
Externí odkaz:
https://doaj.org/article/69e9d0a6cc444bf09dbe51d2f46778ba
Autor:
Kaspar Broch, MD, PhD, Trine Popperud, MD, PhD, Einar Gude, MD, PhD, Yngvar Fløisand, MD, PhD, Ellen-Ann Antal, MD, PhD, Gerhard Bosse, MD, Christoffer Jonsrud, MD, PhD, Terje Hegard, MD, Silje Skaara, MD, Ahmed Elsais, MD, PhD
Publikováno v:
JACC: Case Reports, Vol 2, Iss 5, Pp 785-789 (2020)
A 48-year-old man presented with rapidly progressive heart failure and monoclonal gammopathy of uncertain significance. No specific cause was detected on endomyocardial biopsy. As the heart failure worsened, he also developed progressive skeletal myo
Externí odkaz:
https://doaj.org/article/f8e11dab35b7470c982fb3abaa0295d1
Publikováno v:
Brain and Behavior, Vol 11, Iss 1, Pp n/a-n/a (2021)
Abstract Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for
Externí odkaz:
https://doaj.org/article/ab555798ef244c8cad1ab36620d2f6e3
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e8367838bccf6ebb307ab5ed2b2e41
https://doi.org/10.1016/j.nmd.2021.11.007
https://doi.org/10.1016/j.nmd.2021.11.007
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3289f728eb11e2ea2f7256bc817be719
https://pubmed.ncbi.nlm.nih.gov/36522254
https://pubmed.ncbi.nlm.nih.gov/36522254
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f5dd6ed779a129615810618f8e1ae4d
https://doi.org/10.1016/j.nmd.2021.07.267
https://doi.org/10.1016/j.nmd.2021.07.267
Autor:
S. Løseth, Christoffer Jonsrud, Kai Ivar Müller, Elisabeth Kjeldsen Buvang, Kjell Arne Arntzen, S.I. Mellgren, G. Hoem, H. Halvorsen, M. Van Ghelue, A. Bågenholm
Publikováno v:
Neuromuscular Disorders. 31:S66
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74750f9421ad17375b467db4db986bf4
https://doi.org/10.1016/j.nmd.2021.07.081
https://doi.org/10.1016/j.nmd.2021.07.081
Publikováno v:
Brain and Behavior, Vol 11, Iss 1, Pp n/a-n/a (2021)
Brain and Behavior
Brain and Behavior
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for heredita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfdee9b5426bc9d61cda9a1e953a77e
https://hdl.handle.net/10037/19884
https://hdl.handle.net/10037/19884
Autor:
Christoffer Jonsrud, Geir Åsmund Myge Hansen, Marijke Van Ghelue, Hilde Monica Frostad Riise Stensland, Siri Skarsfjord, Nina Strømsvik, Elisabeth Jarhelle, Monica Ingebrigtsen
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Families with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c32e64986e163086a2e4c84ca7b494
https://hdl.handle.net/10037/17238
https://hdl.handle.net/10037/17238
Autor:
K. Dahlbom, J. Hudson, Christoffer Jonsrud, Morten Duno, Christoph M Wahl, Hanns Lochmüller, Volker Straub, Lise Gammelgaard, Rita Barresi, Snjolaug Arnardottir, Marijke Van Ghelue, Nanna Witting, Laurence A. Bindoff, John Vissing
Publikováno v:
Vissing, J, Barresi, R, Witting, N, Van Ghelue, M, Gammelgaard, L, Bindoff, L A, Straub, V, Lochmuller, H, Hudson, J, Wahl, C M, Arnardottir, S, Dahlbom, K, Jonsrud, C & Duno, M 2016, ' A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy ', Brain, vol. 139, no. 8, pp. 2154-2163 . https://doi.org/10.1093/brain/aww133
Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such findings a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586db66e1f0be9f10af57549e3a85413
https://doi.org/10.1093/brain/aww133
https://doi.org/10.1093/brain/aww133