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Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
- Published in:
- Neuroradiology, 2024, v. 66, n. 8, p. 1397, doi. 10.1007/s00234-024-03386-z
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- Publication type:
- Article
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
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- Pediatric Nephrology, 2024, v. 39, n. 7, p. 2115, doi. 10.1007/s00467-024-06289-6
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- Publication type:
- Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
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- Publication type:
- Article
Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.
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- Child's Nervous System, 2024, v. 40, n. 6, p. 1731, doi. 10.1007/s00381-024-06304-z
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- Publication type:
- Article
Vein of Galen aneurysmal malformation: does size affect outcome?
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- Neuroradiology, 2024, v. 66, n. 6, p. 1031, doi. 10.1007/s00234-024-03347-6
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- Publication type:
- Article
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1751, doi. 10.1093/brain/awad427
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- Publication type:
- Article
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
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- Publication type:
- Article
Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review.
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- 2024
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- Publication type:
- Case Study
Use of gadolinium-based contrast agents in multiple sclerosis: a review by the ESMRMB-GREC and ESNR Multiple Sclerosis Working Group.
- Published in:
- European Radiology, 2024, v. 34, n. 3, p. 1726, doi. 10.1007/s00330-023-10151-y
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- Publication type:
- Article
Early Extra-Uterine Growth Restriction in Very-Low-Birth-Weight Neonates with Normal or Mildly Abnormal Brain MRI: Effects on a 2–3-Year Neurodevelopmental Outcome.
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- Nutrients, 2024, v. 16, n. 3, p. 449, doi. 10.3390/nu16030449
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- Publication type:
- Article
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2
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- Publication type:
- Article
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552
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- Publication type:
- Article
Neurodevelopmental Outcome at 3 Years of Age in Very Low Birth Weight Infants According to Brain Development and Lesions.
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- Current Pediatric Reviews, 2024, v. 20, n. 1, p. 94, doi. 10.2174/1573396319666230208092416
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- Publication type:
- Article
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.
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- Epilepsia Open, 2023, v. 8, n. 4, p. 1314, doi. 10.1002/epi4.12798
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- Publication type:
- Article
Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper.
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- Pediatric Radiology, 2023, v. 53, n. 12, p. 2323, doi. 10.1007/s00247-023-05728-0
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- Publication type:
- Article
Influence of isolated low‐grade intracranial haemorrhages on the neurodevelopmental outcome of infants born very low birthweight.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 10, p. 1366, doi. 10.1111/dmcn.15559
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- Publication type:
- Article
Multiple sclerosis imaging in clinical practice: a European-wide survey of 428 centers and conclusions by the ESNR Working Group.
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- European Radiology, 2023, v. 33, n. 10, p. 7025, doi. 10.1007/s00330-023-09701-1
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- Publication type:
- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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- Publication type:
- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
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- Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
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- Publication type:
- Article
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
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- Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
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- Publication type:
- Article
Assessment of the levels of termination of the conus medullaris and thecal sac in the pediatric population.
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- Neuroradiology, 2023, v. 65, n. 4, p. 835, doi. 10.1007/s00234-022-03111-8
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- Publication type:
- Article
Complete agenesis of corpus callosum and unilateral cortical formation anomalies detected on fetal MR imaging: a phenotype strongly associated with the male fetuses.
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- European Radiology, 2023, v. 33, n. 3, p. 2258, doi. 10.1007/s00330-022-09173-9
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- Publication type:
- Article
Second trimester fetal MRI of the brain: Through the ground glass.
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- Journal of Clinical Ultrasound, 2023, v. 51, n. 2, p. 283, doi. 10.1002/jcu.23423
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- Publication type:
- Article
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
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- Neuroradiology, 2023, v. 65, n. 2, p. 401, doi. 10.1007/s00234-022-03056-y
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- Publication type:
- Article
European recommendations on practices in pediatric neuroradiology: consensus document from the European Society of Neuroradiology (ESNR), European Society of Paediatric Radiology (ESPR) and European Union of Medical Specialists Division of Neuroradiology (UEMS)
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- Pediatric Radiology, 2023, v. 53, n. 1, p. 159, doi. 10.1007/s00247-022-05479-4
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- Publication type:
- Article
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
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- Neuroradiology, 2022, v. 64, n. 11, p. 2163, doi. 10.1007/s00234-022-02990-1
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- Publication type:
- Article
Long term follow-up in two siblings with Sengers syndrome: Case report.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01370-y
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- Publication type:
- Article
Spinal involvement in pediatric familial cavernous malformation syndrome.
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- Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
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- Publication type:
- Article
An Atypical Case of Aphasia: Transitory Ischemic Attack in a 13-Year-Old Patient with Asymptomatic SARS-CoV-2 Infection.
- Published in:
- Children, 2022, v. 9, n. 7, p. N.PAG, doi. 10.3390/children9070983
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- Publication type:
- Article
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1179, doi. 10.3390/genes13071179
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- Publication type:
- Article
Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.
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- Neuroradiology, 2022, v. 64, n. 6, p. 1081, doi. 10.1007/s00234-022-02950-9
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- Publication type:
- Article
Correction to: Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Adenosine Blood Level: A Biomarker of White Matter Damage in Very Low Birth Weight Infants.
- Published in:
- Current Pediatric Reviews, 2022, v. 18, n. 2, p. 153
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- Publication type:
- Article
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 4, p. 811, doi. 10.3390/diagnostics12040811
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- Publication type:
- Article
Balamuthia mandrillaris infection: report of 1st autochthonous, fatal case in Italy.
- Published in:
- 2022
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- Publication type:
- Case Study
Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13711
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- Publication type:
- Article
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 12, p. 4846, doi. 10.1007/s00415-021-10606-6
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- Publication type:
- Article
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5433, doi. 10.1007/s10072-021-05221-2
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- Publication type:
- Article
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
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- Publication type:
- Article
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. e3990, doi. 10.1210/clinem/dgab412
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- Publication type:
- Article
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab183
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- Publication type:
- Article
Symptomatic eating epilepsy: two novel pediatric patients and review of literature.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01051-2
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- Publication type:
- Article
Nosological Differences in the Nature of Punctate White Matter Lesions in Preterm Infants.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.657461
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- Publication type:
- Article
Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I.
- Published in:
- European Journal of Ophthalmology, 2021, v. 31, n. 2, p. 698, doi. 10.1177/1120672120906989
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- Publication type:
- Article
Changes in appearance of cortical formation abnormalities in the foetus detected on sequential in utero MR imaging.
- Published in:
- European Radiology, 2021, v. 31, n. 3, p. 1367, doi. 10.1007/s00330-020-07125-9
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- Publication type:
- Article
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.
- Published in:
- Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01261-x
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- Publication type:
- Article
Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review.
- Published in:
- Neuroradiology, 2020, v. 62, n. 12, p. 1565, doi. 10.1007/s00234-020-02511-y
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- Publication type:
- Article
Regional impairment of cortical and deep gray matter perfusion in preterm neonates with low-grade germinal matrix-intraventricular hemorrhage: an ASL study.
- Published in:
- Neuroradiology, 2020, v. 62, n. 12, p. 1689, doi. 10.1007/s00234-020-02514-9
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- Publication type:
- Article
Endocrine Outcomes In Central Diabetes Insipidus: the Predictive Value of Neuroimaging "Mismatch Pattern".
- Published in:
- 2020
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- Publication type:
- journal article
Definitions and classification of malformations of cortical development: practical guidelines.
- Published in:
- 2020
- By:
- Publication type:
- journal article