Lista de obras - Mariasavina Severino - Dominio Público Uruguay

A delayed methadone encephalopathy: clinical and neuroradiological findings

artículo científico publicado en 2009

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

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

artículo científico publicado en 2017

Acute communicating hydrocephalus as spinal cord surgery complication in a patient with lumbar lipomyelocele. Case report.

artículo científico publicado en 2018

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

scientific article published on 01 October 2019

An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy

artículo científico publicado en 2021

Basal ganglia dysmorphism in patients with Aicardi syndrome

artículo científico publicado en 2020

Bivalirudin anticoagulation to overcome heparin resistance in a neonate with cerebral sinovenus thrombosis

artículo científico publicado en 2020

Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study.

artículo científico publicado en 2018

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

scientific article published on 29 October 2020

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

artículo científico publicado en 2017

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations

scientific article published on 04 December 2018

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

artículo científico publicado en 2014

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

artículo científico publicado en 2017

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

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

artículo científico publicado en 2019

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

artículo científico publicado en 2015

Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping ⬇️

artículo científico publicado el 27 de mayo de 2013

Impact on rehabilitation programs during Covid-19 containment for children with pediatric and perinatal stroke

artículo científico publicado en 2020

Increased Childhood Peripheral Facial Palsy in the Emergency Department During COVID-19 Pandemic

artículo científico publicado en 2020

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity

scientific article published on 08 August 2018

Low-grade intraventricular hemorrhage: is ultrasound good enough?

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up

scientific article published on 22 October 2020

Neuroimaging Changes in Menkes Disease, Part 1.

artículo científico publicado en 2017

Neuroradiologic findings and follow‐up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement ⬇️

artículo científico publicado el 21 de noviembre de 2011

Neuroradiology of chemotherapeutic. Neurotoxicity in children.

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

artículo científico publicado en 2017

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

artículo científico publicado en 2014

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1

artículo científico publicado el 1 de diciembre de 2010

Pediatric Brain Tissue Segmentation from MRI using Clustering: a Preliminary Study

scientific article published on 01 July 2019

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

scientific article published on 29 October 2020

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

artículo científico publicado en 2011

Radiological-Pathological Comparison in a Case of Conjoined Gnatho-Thoracopagus Twins

artículo científico publicado en 2009

Regional impairment of cortical and deep gray matter perfusion in preterm neonates with low-grade germinal matrix-intraventricular hemorrhage: an ASL study

artículo científico publicado en 2020

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia

artículo científico publicado en 2018

Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease.

artículo científico publicado en 2015

Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases

artículo científico publicado en 2018

Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I

scientific article published on 18 February 2020

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

artículo científico publicado en 2014

Sinus pericranii: diagnosis and management in 21 pediatric patients

artículo científico publicado en 2015

Spinal cord infarction due to fibrocartilaginous embolization: the role of diffusion weighted imaging and short-tau inversion recovery sequences

artículo científico publicado en 2010

Spontaneously regressing leukoencephalopathy with bilateral temporal cysts in congenital rubella infection

artículo científico publicado en 2014

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

artículo científico publicado en 2017

Successful urgent neurosugery management with rFVIIa mega doses in a child with haemophilia A and high titre inhibitor.

artículo científico publicado en 2014

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)

artículo científico publicado en 2017

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

artículo científico publicado en 2017

The features of the m.10197G>A mtDNA mutation

scientific article published on 04 April 2019

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

White matter and cerebellar involvement in alternating hemiplegia of childhood

artículo científico publicado en 2020

White matter involvement in a family with a novel PDGFB mutation

artículo científico publicado en 2016

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

artículo científico publicado en 2017

Lista de obras de Mariasavina Severino

A delayed methadone encephalopathy: clinical and neuroradiological findings

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

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Acute communicating hydrocephalus as spinal cord surgery complication in a patient with lumbar lipomyelocele. Case report.

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy

Basal ganglia dysmorphism in patients with Aicardi syndrome

Bivalirudin anticoagulation to overcome heparin resistance in a neonate with cerebral sinovenus thrombosis

Brain-injured Survivors of Monochorionic Twin Pregnancies Complicated by Single Intrauterine Death: MR Findings in a Multicenter Study.

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

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

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping ⬇️

Impact on rehabilitation programs during Covid-19 containment for children with pediatric and perinatal stroke

Increased Childhood Peripheral Facial Palsy in the Emergency Department During COVID-19 Pandemic

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity

Low-grade intraventricular hemorrhage: is ultrasound good enough?

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

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

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

Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up

Neuroimaging Changes in Menkes Disease, Part 1.

Neuroradiologic findings and follow‐up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement ⬇️

Neuroradiology of chemotherapeutic. Neurotoxicity in children.

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

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1

Pediatric Brain Tissue Segmentation from MRI using Clustering: a Preliminary Study

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

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Radiological-Pathological Comparison in a Case of Conjoined Gnatho-Thoracopagus Twins

Regional impairment of cortical and deep gray matter perfusion in preterm neonates with low-grade germinal matrix-intraventricular hemorrhage: an ASL study

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia

Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease.

Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases

Role of visual evoked potentials and optical coherence tomography in the screening for optic pathway gliomas in patients with neurofibromatosis type I

Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

Sinus pericranii: diagnosis and management in 21 pediatric patients

Spinal cord infarction due to fibrocartilaginous embolization: the role of diffusion weighted imaging and short-tau inversion recovery sequences

Spontaneously regressing leukoencephalopathy with bilateral temporal cysts in congenital rubella infection

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

Successful urgent neurosugery management with rFVIIa mega doses in a child with haemophilia A and high titre inhibitor.

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)

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

The features of the m.10197G>A mtDNA mutation

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

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

White matter and cerebellar involvement in alternating hemiplegia of childhood

White matter involvement in a family with a novel PDGFB mutation

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.