Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.

Autor: Kristensen E; Department of Medical Biochemistry, Oslo University Hospital, Oslo, 0424, Norway.; Department of Clinical Medicine (K1), University of Bergen, Bergen, 5020, Norway., Mathisen L; Department of Medical Genetics, Oslo University Hospital, Oslo, 0424, Norway., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway., Klingenberg C; Paediatric Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, 9019, Norway.; Department of Paediatrics, University Hospital of North Norway, Tromsø, 9019, Norway., Brodtkorb E; Department of Neurology, St. Olavs University Hospital, Trondheim, 7006, Norway.; Department of Neuromedicine and Movement Science, Faculty of Medicine, Norwegian University of Science and Technology, Trondheim, 7491, Norway., Rasmussen M; Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, Oslo, 0424, Norway.; Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, 0424, Norway., Tangeraas T; Department of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, 0424, Norway.; European Reference Network for Hereditary Metabolic Disorders., Bliksrud YT; Department of Medical Biochemistry, Oslo University Hospital, Oslo, 0424, Norway., Rahman S; European Reference Network for Hereditary Metabolic Disorders.; Metabolic Unit, Great Ormond Street Hospital, London, UK.; Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, UK., Bindoff LA; Department of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, 0424, Norway.; European Reference Network for Hereditary Metabolic Disorders.; Department of Neurology, Haukeland University Hospital, Bergen, 5021, Norway., Hikmat O; Department of Clinical Medicine (K1), University of Bergen, Bergen, 5020, Norway.; Department of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, 0424, Norway.; European Reference Network for Hereditary Metabolic Disorders.; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, 5021, Norway.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul; Vol. 11 (7), pp. 1819-1830. Date of Electronic Publication: 2024 Jun 07.

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Lack of pre-emptive analgesic effect of (R)-ketamine in laparoscopic cholecystectomy.

Autor: Mathisen, L. C.¹, Aasbø, V.², Ræder, J.², Aasbø, V (AUTHOR), Raeder, J (AUTHOR)

Publikováno v: Acta Anaesthesiologica Scandinavica. Feb99, Vol. 43 Issue 2, p220-224. 5p. 2 Charts, 4 Graphs.

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.

Autor: Slavotinek A; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway., Htun S; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Mathisen L; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo 0450, Norway., Foreman M; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA., Hurtig JE; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA., Enyenihi L; Department of Biology, Emory University, Atlanta, GA 30322, USA., Sterrett MC; Department of Biology, Emory University, Atlanta, GA 30322, USA., Leung SW; Department of Biology, Emory University, Atlanta, GA 30322, USA., Schneidman-Duhovny D; School of Computer Science and Engineering and the Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel., Estrada-Veras J; Department of Pediatrics-Medical Genetics and Metabolism, Uniformed Services University/Walter Reed NMMC Bethesda, MD 20889, USA., Duncan JL; Department of Ophthalmology, University of California, San Francisco, CA 94143, USA., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands., Xia V; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Beleford D; Department of Pediatrics, University of California, San Francisco, CA 94143, USA., Si Y; GeneDx Inc., MD 20877, USA., Douglas G; GeneDx Inc., MD 20877, USA., Treidene HE; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo 0450, Norway., van Hoof A; Department of Microbiology and Molecular Genetics, University of Texas Health Science Center-Houston, Houston, TX 77030, USA., Fasken MB; Department of Biology, Emory University, Atlanta, GA 30322, USA., Corbett AH; Department of Biology, Emory University, Atlanta, GA 30322, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2020 Aug 03; Vol. 29 (13), pp. 2218-2239.

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