Lista de obras - Francesco Nicita - Dominio Público Uruguay

&#x201C;Epileptic Encephalopathy&#x201D; of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings ⬇️

artículo científico publicado el 1 de diciembre de 2010

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

artículo científico publicado en 2017

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

artículo científico publicado en 2018

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype

artículo científico publicado en 2019

Beverage consumption and paediatric NAFLD.

artículo científico publicado en 2016

Bilateral middle cerebral artery thromboembolic occlusion. Could maternal hyperthermia be a detrimental factor? ⬇️

artículo científico publicado el 11 de mayo de 2011

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Clinical and pharmacological aspects of inflammatory demyelinating diseases in childhood: an update.

artículo científico publicado en 2010

Clinical dissection of early onset absence epilepsy in children and prognostic implications

artículo científico publicado en 2013

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

artículo científico publicado en 2016

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

artículo científico publicado en 2019

Developmental anomalies of the medial septal area: possible implication for limbic epileptogenesis

artículo científico publicado en 2010

Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation.

artículo científico publicado en 2011

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

artículo científico publicado en 2015

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

artículo científico publicado en 2012

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

artículo científico publicado en 2016

Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: a pilot study

artículo científico publicado en 2013

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

artículo científico publicado en 2013

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

artículo científico publicado en 2015

Epileptic nystagmus: description of a pediatric case with EEG correlation and SPECT findings.

artículo científico publicado en 2010

Evaluation and management of nonsyndromic craniosynostosis

artículo científico publicado en 2011

Evaluation of the basal ganglia in neurofibromatosis type 1.

artículo científico publicado en 2013

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

artículo científico publicado en 2017

Fiber tractography assessment in double cortex syndrome.

artículo científico publicado en 2011

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma

artículo científico publicado en 2013

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

artículo científico publicado en 2010

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

artículo científico publicado en 2020

Immunotherapy in Rasmussen's encephalitis: when should it be taken into account?

artículo científico publicado en 2012

Long-term outcome of epilepsy in Kabuki syndrome.

artículo científico publicado en 2011

Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.

artículo científico publicado en 2014

Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.

artículo científico publicado en 2011

Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome

artículo científico publicado en 2016

Metabolic epilepsy: an update

artículo científico publicado en 2012

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

scientific article published on 05 October 2020

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

artículo científico publicado en 2015

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

artículo científico publicado en 2022

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

artículo científico publicado en 2015

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

artículo científico publicado en 2018

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

artículo científico publicado en 2018

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

scientific article published on 01 April 2011

Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia

artículo científico publicado en 2014

Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment

artículo científico publicado en 2014

Pediatric cerebellar stroke associated with elevated titer of antibodies to β2-glycoprotein

artículo científico publicado en 2011

Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

artículo científico publicado en 2014

Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations.

artículo científico publicado en 2013

Recent understanding on diagnosis and management of central nervous system vasculitis in children

artículo científico publicado en 2012

Refractory absence seizures: An Italian multicenter retrospective study.

artículo científico publicado en 2015

Reply to "Post-surgical mutism and catatonia"

artículo científico publicado en 2017

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

artículo científico publicado en 2012

Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.

artículo científico publicado en 2014

Severe early onset ethylmalonic encephalopathy with West syndrome

artículo científico publicado en 2015

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

scientific article published on 15 August 2013

Spinal neurofibromatosis in children.

artículo científico publicado en 2012

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

artículo científico publicado en 2013

Stroke and migraine is there a possible comorbidity?

artículo científico publicado en 2016

Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study

artículo científico publicado en 2017

Teaching Neuro Images : Acute necrotizing encephalopathy during novel influenza A (H1N1) virus infection ⬇️

artículo científico publicado el 22 de noviembre de 2011

Teaching NeuroImages: Schizencephaly in fetal alcohol syndrome

scientific article published on 01 October 2011

Tension-type headache in paediatric age.

artículo científico publicado en 2011

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.

artículo científico publicado en 2011

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

artículo científico publicado en 2018

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

artículo científico publicado en 2014

The possible use of the L-type calcium channel antagonist verapamil in drug-resistant epilepsy

artículo científico publicado en 2015

The role of cytomegalovirus in schizencephaly

artículo científico publicado en 2011

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

artículo científico publicado en 2008

Unilateral Lisch nodules in a 47-year-old woman without other stigmata of neurofibromatosis type I: an example of segmental neurofibromatosis?

artículo científico publicado en 2012

Usefulness of diffusion tensor imaging and fiber tractography in neurological and neurosurgical pediatric diseases.

artículo científico publicado en 2010

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

artículo científico publicado en 2012

Lista de obras de Francesco Nicita

&amp;#x201C;Epileptic Encephalopathy&amp;#x201D; of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings ⬇️

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype

Beverage consumption and paediatric NAFLD.

Bilateral middle cerebral artery thromboembolic occlusion. Could maternal hyperthermia be a detrimental factor? ⬇️

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Clinical and pharmacological aspects of inflammatory demyelinating diseases in childhood: an update.

Clinical dissection of early onset absence epilepsy in children and prognostic implications

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Developmental anomalies of the medial septal area: possible implication for limbic epileptogenesis

Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation.

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: a pilot study

Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Epileptic nystagmus: description of a pediatric case with EEG correlation and SPECT findings.

Evaluation and management of nonsyndromic craniosynostosis

Evaluation of the basal ganglia in neurofibromatosis type 1.

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

Fiber tractography assessment in double cortex syndrome.

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Immunotherapy in Rasmussen's encephalitis: when should it be taken into account?

Long-term outcome of epilepsy in Kabuki syndrome.

Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.

Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria.

Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome

Metabolic epilepsy: an update

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome

Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia

Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment

Pediatric cerebellar stroke associated with elevated titer of antibodies to β2-glycoprotein

Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

Posterior fossa malformations and sex chromosomes anomalies. Report of a case with XYY syndrome and overview of known associations.

Recent understanding on diagnosis and management of central nervous system vasculitis in children

Refractory absence seizures: An Italian multicenter retrospective study.

Reply to "Post-surgical mutism and catatonia"

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series.

Severe early onset ethylmalonic encephalopathy with West syndrome

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation

Spinal neurofibromatosis in children.

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

Stroke and migraine is there a possible comorbidity?

Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study

Teaching Neuro Images : Acute necrotizing encephalopathy during novel influenza A (H1N1) virus infection ⬇️

Teaching NeuroImages: Schizencephaly in fetal alcohol syndrome

Tension-type headache in paediatric age.

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

The possible use of the L-type calcium channel antagonist verapamil in drug-resistant epilepsy

The role of cytomegalovirus in schizencephaly

Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke.

Unilateral Lisch nodules in a 47-year-old woman without other stigmata of neurofibromatosis type I: an example of segmental neurofibromatosis?

Usefulness of diffusion tensor imaging and fiber tractography in neurological and neurosurgical pediatric diseases.

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings ⬇️