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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
Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.
- Published in:
- 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
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 2115, doi. 10.1007/s00467-024-06289-6
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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.
- Published in:
- Nutrients, 2024, v. 16, n. 3, p. 449, doi. 10.3390/nu16030449
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- Publication type:
- Article
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 179, doi. 10.1007/s10048-020-00610-9
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- Publication type:
- Article
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 165, doi. 10.1007/s10048-019-00582-5
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- Publication type:
- Article
Quantitative susceptibility map analysis in preterm neonates with germinal matrix-intraventricular hemorrhage.
- Published in:
- 2018
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- Publication type:
- journal 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.
- Published in:
- 2024
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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
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.
- Published in:
- Journal of Neuro-Oncology, 2012, v. 109, n. 3, p. 477, doi. 10.1007/s11060-012-0925-1
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- Publication type:
- Article
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 14, p. 1085, doi. 10.1002/bdr2.1711
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- Publication type:
- Article
Placental Pathology Findings and the Risk of Intraventricular and Cerebellar Hemorrhage in Preterm Neonates.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00761
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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
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 34, doi. 10.1038/ejhg.2012.93
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- Publication type:
- Article
Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 6, p. 613, doi. 10.1530/EJE-18-0094
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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
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- Publication type:
- Correction Notice
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
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.
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- 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.
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- 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
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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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
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 95, doi. 10.1515/jpem-2018-0272
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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
- By:
- Publication type:
- journal article
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Listeria meningitis complicated by hydrocephalus in an immunocompetent child: case report and review of the literature.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00873-w
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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
White matter and cerebellar involvement in alternating hemiplegia of childhood.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 5, p. 1300, doi. 10.1007/s00415-020-09698-3
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- Publication type:
- Article
Cerebral blood flow in a case of typical aura without headache.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 5, p. 1167, doi. 10.1007/s00415-019-09247-7
- By:
- Publication type:
- Article
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 6, p. 1419, doi. 10.1007/s00415-018-8826-7
- By:
- Publication type:
- Article
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552
- By:
- Publication type:
- 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
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
Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 58, n. 5, p. 810, doi. 10.1002/pbc.23405
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- Publication type:
- Article