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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

Kozycki, Christina Torres, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake Warner, Priyam Jani, Dima Hammoud, et al. 2022. “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”. Ann Rheum Dis 81 (10): 1453-64.

A Man with Paraneoplastic Retinopathy plus Small Fiber Polyneuropathy Associated with Waldenström Macroglobulinemia (Lymphoplasmacytic Lymphoma): Insights into Mechanisms

Liu, Yingna, Cynthia Magro, John Loewenstein, Robert Makar, Christopher Stowell, Walter Dzik, Ephraim Hochberg, Anne Louise Oaklander, and Lucia Sobrin. 2015. “A Man With Paraneoplastic Retinopathy Plus Small Fiber Polyneuropathy Associated With Waldenström Macroglobulinemia (Lymphoplasmacytic Lymphoma): Insights into Mechanisms”. Ocul Immunol Inflamm 23 (5): 405-9.