about
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyClinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportAicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.Aicardi-Goutieres syndrome.Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instabilityImproving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Altered PLP1 splicing causes hypomyelination of early myelinating structures.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.Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.Therapies in Aicardi-Goutières syndrome.Risk and protective factors in maternal-fetal attachment development.Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder.Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery.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.Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants.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.Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: a single institution study.Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results.COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.Sleep disturbances in visually impaired toddlers.Cerebral cavernous angiomas: an atypical case in infancy.Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.Antenatal and delivery risk factors simultaneously associated with neonatal death and cerebral palsy in preterm infants.New molecular findings in congenital myopathies due to selenoprotein N gene mutations.Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.
P50
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