Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy

[1]  Y. Crow,et al.  Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi–Goutières syndrome , 2021, Developmental medicine and child neurology.

[2]  Martin A. M. Reijns,et al.  cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing , 2020, Nature Genetics.

[3]  A. Vanderver,et al.  Janus Kinase Inhibition in the Aicardi-Goutières Syndrome. , 2020, The New England journal of medicine.

[4]  E. Bertini,et al.  Movement disorders in ADAR1 disease: Insights from a comprehensive cohort. , 2020, Parkinsonism & related disorders.

[5]  I. Heyman,et al.  Psychiatric comorbidity is common in dystonia and other movement disorders , 2020, Archives of Disease in Childhood.

[6]  Y. Crow,et al.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders , 2020, Brain communications.

[7]  R. Taipa,et al.  Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series , 2020, Movement disorders clinical practice.

[8]  A. Vanderver,et al.  Genetic and phenotypic spectrum associated with IFIH1 gain-of-function , 2020, Human mutation.

[9]  Y. Crow,et al.  Treatments in Aicardi–Goutières syndrome , 2020, Developmental medicine and child neurology.

[10]  R. Badolato,et al.  Novel and emerging treatments for Aicardi-Goutières syndrome , 2019, Expert review of clinical immunology.

[11]  Y. Crow,et al.  An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation , 2018, Neurology.

[12]  A. Vanderver,et al.  Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. , 2017, Neuropediatrics.

[13]  Y. Crow,et al.  Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview , 2016, The Journal of experimental medicine.

[14]  M. Pranzatelli,et al.  Trends and tenets in relapsing and progressive opsoclonus-myoclonus syndrome , 2016, Brain and Development.

[15]  M. Akiyama,et al.  Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. , 2016, The Journal of investigative dermatology.

[16]  Y. Crow,et al.  Aicardi–Goutières syndrome and the type I interferonopathies , 2015, Nature Reviews Immunology.

[17]  L. Lagae,et al.  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 , 2015, American journal of medical genetics. Part A.

[18]  Abhijit Dutta,et al.  Dyschromatosis symmetrica hereditaria with neurological abnormalities. , 2014, Indian journal of dermatology, venereology and leprology.

[19]  A. Munnich,et al.  A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1 , 2013, Journal of Medical Genetics.

[20]  T. Awaya,et al.  Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. , 2013, Rheumatology.

[21]  John H Livingston,et al.  Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature , 2012, Nature Genetics.

[22]  R. Dale,et al.  Biomarkers of inflammatory and auto-immune central nervous system disorders , 2010, Current opinion in pediatrics.

[23]  F. Kaliyadan,et al.  Acral dyschromatosis with developmental regression and dystonia in a seven-year-old child: dyschromatosis symmetrica hereditaria variant or a new syndrome? , 2009, Indian journal of dermatology, venereology and leprology.

[24]  T. Negoro,et al.  Dyschromatosis symmetrica hereditaria associated with neurological disorders , 2008, The Journal of dermatology.

[25]  M. Komine,et al.  Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes , 2008, The Journal of dermatology.

[26]  T. Hashimoto,et al.  Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation , 2006, Movement disorders : official journal of the Movement Disorder Society.

[27]  H. Shimizu,et al.  Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. , 2005, The Journal of investigative dermatology.

[28]  Y. Sekijima,et al.  [A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis]. , 2001, Rinsho shinkeigaku = Clinical neurology.

[29]  A. Pini,et al.  Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report. , 1994, Acta dermato-venereologica.