Discover open access scientific publications

Search, annotate, share and cite publications

Publications by T Awaya

Clinical Heterogeneity Among a Three-Generation Japanese Family With D18N TREX1 Mutation for Aicardi-Goutières Syndrome / Familial Chilblain Lupus

Pediatric Rheumatology

English

Related publications

Familial Chilblain Lupus Due to a Novel Mutation in TREX1 Associated With Aicardi–Goutie’res Syndrome

Pediatric Rheumatology

English

Aicardi-Goutières Syndrome

English

Familial Chilblain Lupus Caused by an Activating Mutation in STING

Pediatric Rheumatology

English

Late Diagnosis and Atypical Brain Imaging of Aicardi-Goutières Syndrome: Are We Failing to Diagnose Aicardi-Goutières Syndrome-2?

Developmental Medicine and Child Neurology

Developmental Neuroscience

English

Cutting Edge: cGAS Is Required for Lethal Autoimmune Disease in the Trex1-Deficient Mouse Model of Aicardi–Goutières Syndrome

Journal of Immunology

English

Three Family Members With Familial Mediterranean Fever Carrying the M694V Mutation Showed Different Clinical Presentations

Internal Medicine

Internal Medicine

English

UBR5Gene Mutation Is Associated With Familial Adult Myoclonic Epilepsy in a Japanese Family

English

Familial Acromegaly: A Specific Clinical Entity--Further Evidence From the Genetic Study of a Three-Generation Family

European Journal of Endocrinology

English

Efficacy of Baricitinib in the Treatment of Chilblains Associated With the Type I Interferonopathy Aicardi-Goutières Syndrome

Arthritis and Rheumatology

English