Related references
Note: Only part of the references are listed.Anti-Tumor Necrosis Factor α versus Tocilizumab in the Treatment of Refractory Uveitic Macular Edema A Multicenter Study from the French Uveitis Network
Mathilde Leclercq et al.
OPHTHALMOLOGY (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
Christina Torres Kozycki et al.
ANNALS OF THE RHEUMATIC DISEASES (2022)
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
Yingwei Wang et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2021)
Importance of Autoimmune Responses in Progression of Retinal Degeneration Initiated by Gene Mutations
Grazyna Adamus
FRONTIERS IN MEDICINE (2021)
ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal Dysplasia and Progressive Vision Loss
Yvan Jamilloux et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2021)
NF-κB: At the Borders of Autoimmunity and Inflammation
Laura Barnabei et al.
FRONTIERS IN IMMUNOLOGY (2021)
Enhanced S-Cone Syndrome Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients
Emanuel R. de Carvalho et al.
OPHTHALMOLOGY RETINA (2021)
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1
Linqing Zhong et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2020)
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
Lloyd B. Williams et al.
GENETICS IN MEDICINE (2019)
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
Mamunur Rashid et al.
NATURE COMMUNICATIONS (2019)
Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema
Sean M. Gratton et al.
NEURO-OPHTHALMOLOGY (2019)
IGF-1, Inflammation and Retinal Degeneration: A Close Network
Ana I. Arroba et al.
FRONTIERS IN AGING NEUROSCIENCE (2018)
Are Anti-Retinal Autoantibodies a Cause or a Consequence of Retinal Degeneration in Autoimmune Retinopathies?
Grazyna Adamus
FRONTIERS IN IMMUNOLOGY (2018)
Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose
Ping Zhou et al.
NATURE (2018)
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies A Long-Term Follow-up Study
Mays Talib et al.
OPHTHALMOLOGY (2017)
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Qing Zhou et al.
NATURE GENETICS (2016)
ISCEV Standard for full-field clinical electroretinography (2015 update)
Daphne L. McCulloch et al.
DOCUMENTA OPHTHALMOLOGICA (2015)
An inherited disorder with splenomegaly, cytopenias, and vision loss
Srinivas K. Tantravahi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
The role of inflammatory cytokines and NF-kappa B/MAPK signaling pathways in the evolution of familial Mediterranean fever: Current clinical perspectives and potential therapeutic approaches
John J. Haddad
CELLULAR IMMUNOLOGY (2009)
ISCEV Standard for full-field clinical electroretinography (2008 update)
M. F. Marmor et al.
DOCUMENTA OPHTHALMOLOGICA (2009)