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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
Multiple sclerosis imaging in clinical practice: a European-wide survey of 428 centers and conclusions by the ESNR Working Group.
- Published in:
- European Radiology, 2023, v. 33, n. 10, p. 7025, doi. 10.1007/s00330-023-09701-1
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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.
- Published in:
- European Radiology, 2023, v. 33, n. 3, p. 2258, doi. 10.1007/s00330-022-09173-9
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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
Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres.
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- European Radiology, 2020, v. 30, n. 10, p. 5250, doi. 10.1007/s00330-020-06899-2
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- Publication type:
- Article
Prenatal magnetic resonance imaging within the 26th week of gestation may predict the fate of isolated upward rotation of the cerebellar vermis: insights from a multicentre study.
- Published in:
- 2020
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- Publication type:
- journal article
The effects of mild germinal matrix-intraventricular haemorrhage on the developmental white matter microstructure of preterm neonates: a DTI study.
- Published in:
- 2018
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- Publication type:
- journal article
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 12, p. 5433, doi. 10.1007/s10072-021-05221-2
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- Publication type:
- Article
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 3, p. 267, doi. 10.1111/cge.12154
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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
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients.
- Published in:
- 2011
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- Publication type:
- Case Study
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
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- Publication type:
- Article
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1751, doi. 10.1093/brain/awad427
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- Publication type:
- Article
Definitions and classification of malformations of cortical development: practical guidelines.
- Published in:
- 2020
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- Publication type:
- journal article
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
- Published in:
- 2019
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- Publication type:
- journal 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
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
Endocrine Outcomes In Central Diabetes Insipidus: the Predictive Value of Neuroimaging "Mismatch Pattern".
- Published in:
- 2020
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- Publication type:
- journal article
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
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
Vein of Galen aneurysmal malformation: does size affect outcome?
- Published in:
- Neuroradiology, 2024, v. 66, n. 6, p. 1031, doi. 10.1007/s00234-024-03347-6
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- Publication type:
- Article
Assessment of the levels of termination of the conus medullaris and thecal sac in the pediatric population.
- Published in:
- Neuroradiology, 2023, v. 65, n. 4, p. 835, doi. 10.1007/s00234-022-03111-8
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- Publication type:
- Article
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
- Published in:
- Neuroradiology, 2023, v. 65, n. 2, p. 401, doi. 10.1007/s00234-022-03056-y
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- Publication type:
- Article
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
- Published in:
- Neuroradiology, 2022, v. 64, n. 11, p. 2163, doi. 10.1007/s00234-022-02990-1
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- Publication type:
- Article
Spinal involvement in pediatric familial cavernous malformation syndrome.
- Published in:
- Neuroradiology, 2022, v. 64, n. 8, p. 1671, doi. 10.1007/s00234-022-02958-1
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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
- By:
- Publication type:
- Correction Notice
Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.
- Published in:
- Neuroradiology, 2022, v. 64, n. 6, p. 1081, doi. 10.1007/s00234-022-02950-9
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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
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
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.
- Published in:
- Neuroradiology, 2020, v. 62, n. 8, p. 1003, doi. 10.1007/s00234-020-02446-4
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- Publication type:
- Article
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type.
- Published in:
- Neuroradiology, 2020, v. 62, n. 1, p. 71, doi. 10.1007/s00234-019-02304-y
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- Publication type:
- Article
Asymmetric cavernous sinus enlargement: a novel finding in Sturge–Weber syndrome.
- Published in:
- Neuroradiology, 2019, v. 61, n. 5, p. 595, doi. 10.1007/s00234-019-02182-4
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- Publication type:
- Article
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.
- Published in:
- Neuroradiology, 2018, v. 60, n. 9, p. 885, doi. 10.1007/s00234-018-2052-y
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- Publication type:
- Article
Pediatric astrocytic tumor grading: comparison between arterial spin labeling and dynamic susceptibility contrast MRI perfusion.
- Published in:
- Neuroradiology, 2018, v. 60, n. 4, p. 437, doi. 10.1007/s00234-018-1992-6
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- Publication type:
- Article
T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.
- Published in:
- Neuroradiology, 2018, v. 60, n. 1, p. 89, doi. 10.1007/s00234-017-1947-3
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- Publication type:
- Article
Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.
- Published in:
- Neuroradiology, 2016, v. 58, n. 1, p. 33, doi. 10.1007/s00234-015-1601-x
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- Publication type:
- Article
Update on neuroimaging phenotypes of mid-hindbrain malformations.
- Published in:
- Neuroradiology, 2015, v. 57, n. 2, p. 113, doi. 10.1007/s00234-014-1431-2
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- Publication type:
- Article
Congenital tumors of the central nervous system.
- Published in:
- Neuroradiology, 2010, v. 52, n. 6, p. 531, doi. 10.1007/s00234-010-0699-0
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- Publication type:
- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
- Published in:
- 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.
- Published in:
- Cerebellum, 2023, v. 22, n. 2, p. 206, doi. 10.1007/s12311-022-01379-3
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- Publication type:
- Article
Balamuthia mandrillaris infection: report of 1st autochthonous, fatal case in Italy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1371
- By:
- Publication type:
- Article
Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
- Published in:
- 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
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
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- Publication type:
- Article
New insights into central nervous system involvement in FOP: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2817, doi. 10.1002/ajmg.a.37271
- By:
- Publication type:
- Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
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- Publication type:
- Article
Torcular pseudomass: a potential diagnostic pitfall in infants and young children.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Skull base osteomyelitis and potential cerebrovascular complications in children.
- Published in:
- Pediatric Radiology, 2012, v. 42, n. 7, p. 867, doi. 10.1007/s00247-011-2340-8
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- Publication type:
- Article