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13 in total

1. A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.

Authors: Kazuo Yamashiro; Ryota Tanaka; Yuanzhe Li; Michitaka Mikasa; Nobutaka Hattori
Journal: J Neurol Date: 2013-08-30 Impact factor: 4.849

Review 2. [Familial chilblain lupus : Type 1 interferonopathy with model character].

Authors: C Fiehn
Journal: Z Rheumatol Date: 2017-05 Impact factor: 1.372

Review 3. Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?

Authors: Christoph Fiehn
Journal: Curr Rheumatol Rep Date: 2017-08-26 Impact factor: 4.592

Review 4. Human disease phenotypes associated with mutations in TREX1.

Authors: Gillian I Rice; Mathieu P Rodero; Yanick J Crow
Journal: J Clin Immunol Date: 2015-03-04 Impact factor: 8.317

5. TREX1 - Apex predator of cytosolic DNA metabolism.

Authors: Sean R Simpson; Wayne O Hemphill; Teesha Hudson; Fred W Perrino
Journal: DNA Repair (Amst) Date: 2020-06-12

6. [Genetics of lupus erythematosus].

Authors: Claudia Günther
Journal: Hautarzt Date: 2015-02 Impact factor: 0.751

7. The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Authors: Kader Cetin Gedik; Lovro Lamot; Micol Romano; Erkan Demirkaya; David Piskin; Sofia Torreggiani; Laura A Adang; Thais Armangue; Kathe Barchus; Devon R Cordova; Yanick J Crow; Russell C Dale; Karen L Durrant; Despina Eleftheriou; Elisa M Fazzi; Marco Gattorno; Francesco Gavazzi; Eric P Hanson; Min Ae Lee-Kirsch; Gina A Montealegre Sanchez; Bénédicte Neven; Simona Orcesi; Seza Ozen; M Cecilia Poli; Elliot Schumacher; Davide Tonduti; Katsiaryna Uss; Daniel Aletaha; Brian M Feldman; Adeline Vanderver; Paul A Brogan; Raphaela Goldbach-Mansky
Journal: Ann Rheum Dis Date: 2022-01-27 Impact factor: 27.973

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.