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List of works by Simona Orcesi

A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study

scientific article published on 08 September 2020

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

scientific article published on 01 September 2000

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

scientific article

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

scientific article

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

scientific article

Aicardi-Goutieres syndrome.

scientific article

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

scientific article published on 20 February 2008

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder

scientific article

Antenatal and delivery risk factors simultaneously associated with neonatal death and cerebral palsy in preterm infants.

scientific article published in April 1997

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

scientific article

Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case

scientific article published in January 2006

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

scientific article published on 20 December 2013

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

scientific article published on 2 July 2008

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

scientific article published on 29 August 2012

Calcifying leukoencephalopathies: new overlapping phenotypes

scientific article published on 14 March 2012

Cerebral cavernous angiomas: an atypical case in infancy.

scientific article published in July 1997

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

scientific article

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery

scientific article published on 9 March 2015

Cortical malformations and COL4A1 mutation: Three new cases

scientific article published on 22 February 2019

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

scientific article published on 09 March 2022

Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother-infant dyads

scientific article published on 05 July 2019

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

scientific article published on 23 August 2011

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

scientific article

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

scientific article

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

scientific article published on 29 January 2018

Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study

scientific article published on 18 July 2018

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

scientific article published on 16 August 2018

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations

scientific article published on 13 August 2019

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.

scientific article

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome

scientific article

G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies

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

scientific article published on 30 March 2014

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

scientific article published on 10 April 2017

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

scientific article

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

scientific article

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

scientific article

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

scientific article published on 4 April 2018

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features

scientific article published on 02 November 2020

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

scientific article

Measurement of skeletal muscle mass in Duchenne muscular dystrophy: use of 24-h creatinine excretion ⬇️

scientific article published on October 1, 2003

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

scientific article published on 26 May 2019

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

Near-Infrared Spectroscopy Monitoring, Superior Vena Cava Flow, and Neurodevelopmental Outcome at 2 years in a Cohort of Very Low-Birth-Weight Infants

scientific article published on 7 September 2016

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

scientific article published on 20 July 2017

Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.

scientific article published in October 1997

Neurodevelopmental outcome in very-low-birth-weight infants with or without periventricular haemorrhage and/or leucomalacia

scientific article published on October 1, 1992

Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.

scientific article published on 17 June 2012

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

New molecular findings in congenital myopathies due to selenoprotein N gene mutations.

scientific article published in January 2011

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.

scientific article published on 24 January 2013

Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: a single institution study.

scientific article published on 4 August 2015

Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.

scientific article published on 15 July 2010

Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.

scientific article published on 7 April 2016

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

scientific article

Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability

scientific article

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

scientific article published on 20 July 2011

Risk and protective factors in maternal-fetal attachment development

scientific article published on September 2014

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis

article

Sleep disturbances in visually impaired toddlers.

scientific article published in October 2008

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

scientific article published on 22 March 2011

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

scientific article published on 25 February 2019

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

scientific article published on 13 May 2013

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

scientific article

The Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload

scientific article published on 15 April 2011

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

scientific article published on 12 April 2007

The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads.

scientific article

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients

scientific article published in May 2005

Therapies in Aicardi-Goutières syndrome.

scientific article published on January 2014

Typing TREX1 gene in patients with systemic lupus erythematosus

scientific article

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

scientific article published on 23 November 2020

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