about
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesClinical and molecular phenotype of Aicardi-Goutieres syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersIntra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trialMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureAicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementAicardi-Goutieres syndrome.Molecular and clinical characterization of albinism in a large cohort of Italian patients.Leber's congenital amaurosis: an update.Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeSynonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.Typing TREX1 gene in patients with systemic lupus erythematosus.Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.Rates of neonatal death and cerebral palsy associated with fetal growth restriction among very low birthweight infants. A temporal analysis.Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity.Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection.Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.Severity of abruptio placentae and neurodevelopmental outcome in low birth weight infants.Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.Spectrum of visual disorders in children with cerebral visual impairment.Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.Sleep disturbances in visually impaired toddlers.Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function.
P50
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P50
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hulumtuese
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հետազոտող
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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Elisa Fazzi
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0000-0003-4805-7906