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Alzheimer'S Research & Therapy|December 31, 2010
Amyloid precursor protein selective gamma-secretase inhibitors for treatment of Alzheimer's diseaseGuriqbal S Basi, Susanna Hemphill, Elizabeth F Brigham, et al.
Annals of the Rheumatic Diseases|November 5, 2016
Development of the autoinflammatory disease damage index (ADDI)Nienke M Ter Haar, Kim V Annink, Sulaiman M Al-Mayouf, et al.
Journal of Medicinal Chemistry|May 30, 2013
Discovery of (R)-4-cyclopropyl-7,8-difluoro-5-(4-(trifluoromethyl)phenylsulfonyl)-4,5-dihydro-1H-pyrazolo[4,3-c]quinoline (ELND006) and (R)-4-cyclopropyl-8-fluoro-5-(6-(trifluoromethyl)pyridin-3-ylsulfonyl)-4,5-dihydro-2H-pyrazolo[4,3-c]quinoline (ELND007): metabolically stable γ-secretase Inhibitors that selectively inhibit the production of amyloid-β over NotchGary Probst, Danielle L Aubele, Simeon Bowers, et al.
The New England Journal of Medicine|July 17, 2014
Activated STING in a vascular and pulmonary syndromeY Liu, A A Jesus, B Marrero, et al.
Annals of the Rheumatic Diseases|August 6, 2018
In silico validation of the Autoinflammatory Disease Damage IndexNienke M Ter Haar, Amber Laetitia Justine van Delft, Kim Valerie Annink, et al.
Nature Communications|March 18, 2023
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndromeAdriana A de Jesus, Guibin Chen, Dan Yang, et al.
Annals of the Rheumatic Diseases|November 18, 2025
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesisSophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, et al.
Journal of Neurology|February 27, 2024
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2Katharina Vill, Moritz Tacke, Anna König, et al.
The Journal of Clinical Investigation|April 13, 2018
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathiesGina A Montealegre Sanchez, Adam Reinhardt, Suzanne Ramsey, et al.
The Lancet Regional Health. Europe|February 16, 2024
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational studyRené Günther, Claudia Diana Wurster, Svenja Brakemeier, et al.
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