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How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?
- Published in:
- Neurological Sciences, 2022, v. 43, n. 3, p. 2043, doi. 10.1007/s10072-021-05510-w
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- Publication type:
- Article
Developmental Outcomes of Aicardi Goutières Syndrome.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 1, p. 7, doi. 10.1177/0883073819870944
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- Publication type:
- Article
Early-Onset Aicardi-Goutières Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 10, p. 1343, doi. 10.1177/0883073814562252
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- Publication type:
- Article
Characterization of Mitochondrial Alterations in Aicardi–Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14482, doi. 10.3390/ijms232214482
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- Publication type:
- Article
Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic?
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.950455
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- Publication type:
- Article
Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1441128
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- Publication type:
- Article
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 82, doi. 10.1002/ajmg.a.63413
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- Publication type:
- Article
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2722, doi. 10.1002/ajmg.a.61832
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- Publication type:
- Article
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 810, doi. 10.1002/ajmg.a.36907
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- Publication type:
- Article
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 ( AGS6).
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 815, doi. 10.1002/ajmg.a.36360
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- Publication type:
- Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
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- Publication type:
- Article
Calcifying leukoencephalopathies: New overlapping phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 964, doi. 10.1002/ajmg.a.35242
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- Publication type:
- Article
Effect of preterm premature rupture of membranes on neurodevelopmental outcome: follow up at two years of age.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 1995, v. 102, n. 11, p. 882, doi. 10.1111/j.1471-0528.1995.tb10875.x
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- Publication type:
- Article
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
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- 2018
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- Publication type:
- journal article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
- Published in:
- 2018
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- Publication type:
- journal article
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy.
- Published in:
- 2000
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- Publication type:
- journal article
Response to carbamazepine of recessive-type myotonia congenita.
- Published in:
- 2000
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- Publication type:
- Case Study
Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.
- Published in:
- 2016
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- Publication type:
- journal article
Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: a single institution study.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
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- 2011
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- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report.
- Published in:
- 2011
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- Publication type:
- Case Study
3279 First in Man.
- Published in:
- 2019
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- Publication type:
- Abstract
An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2017, v. 47, n. 5, p. 1490, doi. 10.1007/s10803-017-3050-3
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- Publication type:
- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Publication type:
- Article
Zika Virus Infection in Pregnancy: Advanced Diagnostic Approaches in Dengue-Naive and Dengue-Experienced Pregnant Women and Possible Implication for Cross-Reactivity and Cross-Protection.
- Published in:
- Microorganisms, 2020, v. 8, n. 1, p. 56, doi. 10.3390/microorganisms8010056
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- Publication type:
- Article
Treatment response to Janus kinase inhibitor in a child affected by Aicardi‐Goutières syndrome.
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- 2023
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- Publication type:
- Case Study
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01660-6
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- Publication type:
- Article
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 693, doi. 10.1007/s10875-016-0325-y
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- Publication type:
- Article
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial.
- Published in:
- 2021
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- Publication type:
- journal article
Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients.
- Published in:
- Brain Pathology, 2009, v. 19, n. 4, p. 650, doi. 10.1111/j.1750-3639.2008.00229.x
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- Publication type:
- Article
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients.
- Published in:
- Clinical Pharmacology & Therapeutics, 2020, v. 108, n. 2, p. 358, doi. 10.1002/cpt.1837
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- Publication type:
- Article
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95864-0
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- Publication type:
- Article
Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 months.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95053-z
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- Publication type:
- Article
Reduction of hRNase H2 activity in Aicardi– Goutières syndrome cells leads to replication stress and genome instability
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 649, doi. 10.1093/hmg/ddu485
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- Publication type:
- Article
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 948, doi. 10.3390/diagnostics11060948
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- Publication type:
- Article
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1152237
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- Publication type:
- Article
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.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 2, p. 167, doi. 10.1177/0883073813511859
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- Publication type:
- Article
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features.
- Published in:
- 2013
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- Publication type:
- Case Study
Different Mutations in Three Prime Repair Exonuclease 1 and Ribonuclease H2 Genes Affect Clinical Features in Aicardi-Goutières Syndrome.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 1, p. 51, doi. 10.1177/0883073811413582
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- Publication type:
- Article
Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”.
- Published in:
- 2011
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- Publication type:
- Letter
Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 7, p. 876, doi. 10.1177/0883073810390038
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- Publication type:
- Article
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.
- Published in:
- Clinical & Developmental Immunology, 2012, p. 1, doi. 10.1155/2012/206730
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- Publication type:
- Article
Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi- Goutières Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1066, doi. 10.1002/humu.22336
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- Publication type:
- Article
Type I hyperprolinemia: genotype/phenotype correlations.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. 961, doi. 10.1002/humu.21296
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- Publication type:
- Article
Expanding the Natural History of SNORD118 -Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1817, doi. 10.3390/genes14091817
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- Publication type:
- Article
Early parenting intervention promotes 24-month psychomotor development in preterm children.
- Published in:
- 2021
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- Publication type:
- journal article
Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01303-9
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- Publication type:
- Article
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01033-4
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- Publication type:
- Article
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders.
- Published in:
- BMC Anesthesiology, 2019, v. 19, n. 1, p. 1, doi. 10.1186/s12871-019-0897-1
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- Publication type:
- Article
Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy.
- Published in:
- 2002
- By:
- Publication type:
- journal article