Lista de obras - Stefano Sartori - Dominio Público Uruguay

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

artículo científico

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

artículo científico publicado en 2020

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

artículo científico publicado en 2009

Alexithymia in juvenile primary headache sufferers: a pilot study.

artículo científico publicado en 2010

Analysis of the bispectral index during natural sleep in children

artículo científico publicado en 2005

Angelman syndrome due to a novel splicing mutation of the UBE3A gene

artículo científico publicado en 2008

Anti-NMDAR encephalitis preceded by non-herpetic central nervous system infection: Systematic literature review and first case of tick-borne encephalitis triggering anti-NMDAR encephalitis

scientific article published on 19 March 2019

Antibiotic treatment for pyelonephritis in children: multicentre randomised controlled non-inferiority trial

artículo científico publicado en 2007

Baby Jerking: A Teaching Video-Recorded Case of Febrile Myoclonus

artículo científico publicado en 2015

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings

artículo científico publicado en 2008

Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis

artículo científico publicado en 2011

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

artículo científico publicado en 2018

Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report

artículo científico publicado en 2017

Cerebellar gray matter lesions are common in pediatric multiple sclerosis at clinical onset

artículo científico publicado en 2020

Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex

artículo científico publicado en 2019

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

scientific article published on 02 August 2019

Chiari 2 without spinal dysraphism: does it blow a hole in the pathogenesis?

artículo científico publicado en 2012

Children with convulsive epileptic seizures presenting to padua pediatric emergency department: the first retrospective population-based descriptive study in an Italian Health District

artículo científico publicado en 2014

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up

artículo científico publicado en 2010

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

artículo científico publicado en 2013

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

artículo científico publicado en 2013

Diffusion-weighted imaging findings in hemolytic uremic syndrome with central nervous system involvement

artículo científico publicado en 2008

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Early cortical cytotoxic edema in meningococcal meningitis

artículo científico publicado en 2009

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

artículo científico publicado en 2016

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

artículo científico publicado en 2012

Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

artículo científico publicado en 2012

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)

artículo científico publicado en 2016

Familial Ohtahara syndrome due to a novel ARX gene mutation

scientific article published on 01 December 2010

First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review

scientific article published on 15 October 2019

First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy

scientific article published on 07 September 2018

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy

artículo científico

Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis

artículo científico publicado en 2018

Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult.

artículo científico publicado en 2007

Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches

scientific article published on 14 November 2018

Headache in children with Chiari I malformation

artículo científico

Herpes simplex virus-induced anti-N-methyl-D-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases

artículo científico publicado en 2017

Identification of four novel PCDH19 Mutations and prediction of their functional impact

artículo científico publicado en 2014

Immunotherapeutics in Pediatric Autoimmune Central Nervous System Disease: Agents and Mechanisms

artículo científico publicado en 2017

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

artículo científico publicado en 2007

Intraparenchymal ventricular diverticula in chronic obstructive hydrocephalus: prevalence, imaging features and evolution.

artículo científico publicado en 2015

Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis

artículo científico publicado en 2013

Intravenous immunoglobulin in paediatric neurology: safety, adherence to guidelines, and long-term outcome

artículo científico publicado en 2016

LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome

scientific article published on 18 July 2019

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation

scientific article published on 10 May 2019

Long-term neurocognitive outcome and quality of life in pediatric acute disseminated encephalomyelitis

artículo científico publicado en 2013

Long-term plasma exchange in pediatric CIDP.

artículo científico publicado en 2015

Longitudinal electroencephalographic (EEG) findings in pediatric anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis: the Padua experience

artículo científico publicado en 2014

Management of antibody-mediated autoimmune encephalitis in adults and children: literature review and consensus-based practical recommendations

scientific article published on 03 June 2019

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy

scientific article published on 22 November 2019

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

artículo científico publicado en 2019

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

artículo científico publicado en 2013

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association

artículo científico publicado en 2016

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis ⬇️

artículo científico publicado el 20 de diciembre de 2010

Mycophenolate mofetil in paediatric autoimmune or immune-mediated diseases of the central nervous system: clinical experience and recommendations

scientific article published on 17 September 2018

Mycophenolate mofetil, azathioprine and methotrexate usage in paediatric anti-NMDAR encephalitis: A systematic literature review

article

N-methyl-D-aspartate receptor encephalitis: laboratory diagnostics and comparative clinical features in adults and children.

artículo científico publicado en 2018

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity

artículo científico publicado en 2015

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

artículo científico publicado en 2018

Neuroimaging Changes in Menkes Disease, Part 1.

artículo científico publicado en 2017

Neuroimaging Changes in Menkes Disease, Part 2.

artículo científico publicado en 2017

Neuropsychological And Psychopathological Profile Of Anti-Nmdar Encephalitis: A Possible Pathophysiological Model For Pediatric Neuropsychiatric Disorders

scientific article published on 01 November 2019

Nonorganic (psychogenic) visual loss in children: a retrospective series

scientific article published on 01 March 2010

Norovirus gastroenteritis and seizures: an atypical case with neuroradiological abnormalities

artículo científico publicado en 2011

Osmophobia as an early marker of migraine: a follow-up study in juvenile patients

artículo científico publicado en 2012

Pacemaker in complicated and refractory breath-holding spells: when to think about it?

artículo científico publicado en 2014

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

artículo científico publicado en 2015

Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili).

artículo científico publicado en 2015

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

artículo científico publicado en 2011

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients

artículo científico publicado en 2019

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype

scientific article published on 17 September 2019

Plasma exchange in pediatric anti-NMDAR encephalitis: A systematic review.

artículo científico publicado en 2016

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? ⬇️

artículo científico publicado el 29 de junio de 2011

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

artículo científico publicado en 2010

Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness.

artículo científico publicado en 2011

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders

scientific article published on 27 November 2018

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

artículo científico publicado en 2017

Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis

scientific article published on 07 June 2019

Rhinencephalon changes in tuberous sclerosis complex

scientific article published on 17 June 2018

Secondary parenchymal and vascular changes after middle cerebral artery stroke in children.

artículo científico publicado en 2013

Serum and CSF neurofilament light chain levels in antibody-mediated encephalitis

scientific article published on 03 April 2019

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

artículo científico publicado en 2010

Subgroup comparison according to clinical phenotype and serostatus in autoimmune encephalitis: a multicenter retrospective study

scientific article published on 14 January 2020

Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study.

artículo científico publicado en 2016

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

artículo científico publicado en 2013

The new definition and classification of status epilepticus: What are the implications for children?

artículo científico publicado en 2016

Treatment of convulsive status epilepticus in childhood: recommendations of the Italian League Against Epilepsy.

artículo científico publicado en 2013

Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study

artículo científico publicado en 2018

Unilateral hypoglossal nerve palsy due to neurovascular conflict in a child.

artículo científico publicado en 2008

Varicella and stroke in children: good outcome without steroids

artículo científico publicado en 2010

Lista de obras de Stefano Sartori

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Alexithymia in juvenile primary headache sufferers: a pilot study.

Analysis of the bispectral index during natural sleep in children

Angelman syndrome due to a novel splicing mutation of the UBE3A gene

Anti-NMDAR encephalitis preceded by non-herpetic central nervous system infection: Systematic literature review and first case of tick-borne encephalitis triggering anti-NMDAR encephalitis

Antibiotic treatment for pyelonephritis in children: multicentre randomised controlled non-inferiority trial

Baby Jerking: A Teaching Video-Recorded Case of Febrile Myoclonus

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings

Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report

Cerebellar gray matter lesions are common in pediatric multiple sclerosis at clinical onset

Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Chiari 2 without spinal dysraphism: does it blow a hole in the pathogenesis?

Children with convulsive epileptic seizures presenting to padua pediatric emergency department: the first retrospective population-based descriptive study in an Italian Health District

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

Diffusion-weighted imaging findings in hemolytic uremic syndrome with central nervous system involvement

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Early cortical cytotoxic edema in meningococcal meningitis

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)

Familial Ohtahara syndrome due to a novel ARX gene mutation

First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review

First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy

Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis

Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult.

Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches

Headache in children with Chiari I malformation

Herpes simplex virus-induced anti-N-methyl-D-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases

Identification of four novel PCDH19 Mutations and prediction of their functional impact

Immunotherapeutics in Pediatric Autoimmune Central Nervous System Disease: Agents and Mechanisms

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

Intraparenchymal ventricular diverticula in chronic obstructive hydrocephalus: prevalence, imaging features and evolution.

Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis

Intravenous immunoglobulin in paediatric neurology: safety, adherence to guidelines, and long-term outcome

LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation

Long-term neurocognitive outcome and quality of life in pediatric acute disseminated encephalomyelitis

Long-term plasma exchange in pediatric CIDP.

Longitudinal electroencephalographic (EEG) findings in pediatric anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis: the Padua experience

Management of antibody-mediated autoimmune encephalitis in adults and children: literature review and consensus-based practical recommendations

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis ⬇️

Mycophenolate mofetil in paediatric autoimmune or immune-mediated diseases of the central nervous system: clinical experience and recommendations

Mycophenolate mofetil, azathioprine and methotrexate usage in paediatric anti-NMDAR encephalitis: A systematic literature review

N-methyl-D-aspartate receptor encephalitis: laboratory diagnostics and comparative clinical features in adults and children.

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Neuroimaging Changes in Menkes Disease, Part 1.

Neuroimaging Changes in Menkes Disease, Part 2.

Neuropsychological And Psychopathological Profile Of Anti-Nmdar Encephalitis: A Possible Pathophysiological Model For Pediatric Neuropsychiatric Disorders

Nonorganic (psychogenic) visual loss in children: a retrospective series

Norovirus gastroenteritis and seizures: an atypical case with neuroradiological abnormalities

Osmophobia as an early marker of migraine: a follow-up study in juvenile patients

Pacemaker in complicated and refractory breath-holding spells: when to think about it?

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili).

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype

Plasma exchange in pediatric anti-NMDAR encephalitis: A systematic review.

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? ⬇️

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis

Rhinencephalon changes in tuberous sclerosis complex