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Author/Creator Knappskog, Per M.

2. Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease. Issue 10 (5th September 2018)

Authors:
Gaare, Johannes J.; Nido, Gonzalo S.; Sztromwasser, Paweł; Knappskog, Per M.; Dahl, Olav; Lund‐Johansen, Morten; Maple‐Grødem, Jodi; Alves, Guido; Tysnes, Ole‐Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos
Journal:
Movement disorders
Issue:
Volume 33:Issue 10(2018)
Page Start:
1591
Record Type:
Journal Article
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3. Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. Issue 133 (December 2022)

Authors:
Sjøgren, Thea; Bratland, Eirik; Røyrvik, Ellen C.; Grytaas, Marianne Aa.; Benneche, Andreas; Knappskog, Per M.; Kämpe, Olle; Oftedal, Bergithe E.; Husebye, Eystein S.; Wolff, Anette S.B.
Journal:
Journal of autoimmunity
Issue:
Issue 133(2022)
Page Start:
Record Type:
Journal Article
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4. The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Issue 3 (24th October 2016)

Authors:
Aukrust, Ingvild; Jansson, Ragnhild W.; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte G.; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per M.
Journal:
Acta ophthalmologica
Issue:
Volume 95:Issue 3(2017)
Page Start:
240
Record Type:
Journal Article
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5. The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. Issue 2 (9th December 2018)

Authors:
Szigetvari, Peter D.; Muruganandam, Gopinath; Kallio, Juha P.; Hallin, Erik I.; Fossbakk, Agnete; Loris, Remy; Kursula, Inari; Møller, Lisbeth B.; Knappskog, Per M.; Kursula, Petri; Haavik, Jan
Journal:
Journal of neurochemistry
Issue:
Volume 148:Issue 2(2019)
Page Start:
291
Record Type:
Journal Article
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6. Unusual Stüve‐Wiedemann syndrome with complete maternal chromosome 5 isodisomy. (24th October 2014)

Authors:
Melone, Mariarosa A. B.; Pellegrino, Michael J.; Nolano, Maria; Habecker, Beth A.; Johansson, Stefan; Nathanson, Neil M.; Knappskog, Per M.; Hahn, Angelika F.; Boman, Helge
Journal:
Annals of clinical and translational neurology
Issue:
Volume 1:Number 11(2014)
Page Start:
926
Record Type:
Journal Article
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7. Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. (November 2015)

Authors:
Aarnes, Siv Grethe; Hagen, Snorre B.; Andreassen, Rune; Schregel, Julia; Knappskog, Per M.; Hailer, Frank; Stenhouse, Gordon; Janke, Axel; Eiken, Hans Geir
Journal:
Forensic science international
Issue:
Volume 19(2015:Nov.)
Page Start:
197
Record Type:
Journal Article
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8. Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. (November 2015)

Authors:
Aarnes, Siv Grethe; Hagen, Snorre B.; Andreassen, Rune; Schregel, Julia; Knappskog, Per M.; Hailer, Frank; Stenhouse, Gordon; Janke, Axel; Eiken, Hans Geir
Journal:
Forensic science international
Issue:
Volume 19(2015:Nov.)
Page Start:
197
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗