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List of works by Domenico Tortora

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

scientific article

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Ability of (18)F-DOPA PET/CT and fused (18)F-DOPA PET/MRI to assess striatal involvement in paediatric glioma

scientific article published on 25 February 2016

Added value of diffusion weighted imaging in pediatric central nervous system embryonal tumors surveillance

scientific article published on 25 July 2017

Comparing 3T T1-weighted sequences in identifying hyperintense punctate lesions in preterm neonates.

scientific article published on 6 November 2014

Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies

scientific article published in 2022

Crossed Pontine Hemiatrophy Associated with Unilateral Cerebellar Hemorrhage in Premature Infants

scientific article published on 23 August 2016

Data-driven grading of brain gliomas: a multiparametric MR imaging study.

scientific article

Diagnostic Approach to Pediatric Spine Disorders.

scientific article

Differences in subependymal vein anatomy may predispose preterm infants to GMH-IVH.

scientific article published on 6 June 2017

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

scientific article published on 22 February 2019

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

scientific article published on 17 May 2017

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

scientific article

Grading and outcome prediction of pediatric diffuse astrocytic tumors with diffusion and arterial spin labeling perfusion MRI in comparison with 18F-DOPA PET.

scientific article

Improvement in White Matter Tract Reconstruction with Constrained Spherical Deconvolution and Track Density Mapping in Low Angular Resolution Data: A Pediatric Study and Literature Review

scientific article published on 30 August 2017

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

scientific article

Intradural Extramedullary Ependymoma with Leptomeningeal Dissemination: The First Case Report in a Child and Literature Review

scientific article published on 07 April 2015

Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome

scientific article published on 21 September 2020

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

scientific article published on 08 June 2017

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

scientific article published on 5 September 2017

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

scientific article published in 2022

Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up

scientific article published on 22 October 2020

Neuroimaging of Infectious and Inflammatory Diseases of the Pediatric Cerebellum and Brainstem.

scientific article

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy

scientific article published on 19 April 2018

Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva.

scientific article

Pediatric astrocytic tumor grading: comparison between arterial spin labeling and dynamic susceptibility contrast MRI perfusion.

scientific article published on 16 February 2018

Perinatal Arterial Ischemic Stroke in Fetal Vascular Malperfusion: A Case Series and Literature Review

scientific article published on 29 October 2020

Prematurity and brain perfusion: Arterial spin labeling MRI.

scientific article

Quantitative susceptibility map analysis in preterm neonates with germinal matrix-intraventricular hemorrhage

scientific article published on 10 May 2018

Reversible and Asymptomatic Gyral and Subarachnoid Contrast Enhancement after Carotid Stenting

scientific article published on 13 April 2015

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

scientific article published on 19 January 2017

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

scientific article published on 22 January 2018

T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.

scientific article published on 11 November 2017

The effects of mild germinal matrix-intraventricular haemorrhage on the developmental white matter microstructure of preterm neonates: a DTI study

scientific article published on 27 September 2017

Torcular pseudomass: a potential diagnostic pitfall in infants and young children.

scientific article published on 8 November 2016

Variability of Cerebral Deep Venous System in Preterm and Term Neonates Evaluated on MR SWI Venography.

scientific article published on 28 July 2016

White matter and cerebellar involvement in alternating hemiplegia of childhood

scientific article published on 16 January 2020

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