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Author/Creator Benneche, Andreas

1. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021)

Authors:
Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si...
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
745
Record Type:
Journal Article
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2. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Issue 10 (22nd July 2022)

Authors:
Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Mar...
Other Names:
author non-byline.; Acosta Maria T. author non-byline.; Adam Margaret author non-byline.; Adams David R. author non-byline.; Alvey Justin author non-byline.; Amendola Laura author non-byline.; Andrews Ashley author non-byline.; Ashley Euan A. author non-byline.; Azamian Mahshid S. author non-byl...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 81:Issue 10(2022)
Page Start:
1453
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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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