Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation

(2018) Sadeem Ahmad et al.   CELL

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

(2018) Lyse Ruaud et al.   HUMAN MUTATION

An open-label trial of JAK 1/2 blockade in progressive IFIH1 -associated neuroinflammation

(2018) Kavitha Kothur et al.   NEUROLOGY

Aicardi goutières syndrome is associated with pulmonary hypertension

(2018) Laura A. Adang et al.   MOLECULAR GENETICS AND METABOLISM

JAK 1/2 Blockade in MDA5 Gain-of-Function

(2018) Kirsty E. McLellan et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Sine causa tetraparesis

(2018) Jessica Galli et al.   MEDICINE

Exome Pool-Seq in neurodevelopmental disorders

(2017) Bernt Popp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

(2017) Insa Buers et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

(2017) Luciana Martins de Carvalho et al.   Arthritis & Rheumatology

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

(2015) Frank Rutsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes

(2015) A.-C. Bursztejn et al.   BRITISH JOURNAL OF DERMATOLOGY

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

(2015) Yael Hacohen et al.   NEUROLOGY

MDA5—filament, dynamics and disease

(2015) Yoandris del Toro Duany et al.   Current Opinion in Virology

Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations

(2014) Hirotsugu Oda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

(2014) Gillian I Rice et al.   NATURE GENETICS

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY