Lista de obras -

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

artículo científico publicado en 2013

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy

artículo científico publicado en 1993

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

artículo científico publicado en 2012

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects

scientific article published on 29 November 2019

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 PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

artículo científico publicado en 2017

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy

article

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

artículo científico publicado en 2014

Abnormal cerebellar foliation in EBF3 mutation

scientific article published on 04 May 2020

Aicardi-Goutières syndrome: description of a late onset case

artículo científico publicado en 2008

Another patient with MECP2 mutation without classic Rett syndrome phenotype

scientific article published on 01 May 2005

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

artículo científico publicado en 2008

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

artículo científico publicado en 2012

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

artículo científico publicado en 2007

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

artículo científico publicado en 2019

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

artículo científico publicado en 2020

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

artículo científico publicado en 2015

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

scientific article published on 26 January 2020

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

artículo científico publicado en 2018

Cognitive and behavioural effects of migraine in childhood and adolescence

artículo científico publicado en 2006

Combined treatment modality for medulloblastoma in childhood: effects on neuropsychological functioning

artículo científico publicado en 1991

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

artículo científico publicado en 2018

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

artículo científico publicado en 2018

Congenital muscular dystrophies with cognitive impairment. A population study.

artículo científico publicado en 2010

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

artículo científico publicado en 1998

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

artículo científico publicado en 2019

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

artículo científico publicado en 2019

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675

artículo científico publicado en 2019

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case

artículo científico publicado en 2007

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

artículo científico publicado en 2013

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

artículo científico publicado en 2020

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay

scientific article published on 01 December 2006

Diagnostic approach to cerebellar disease in children

artículo científico publicado en 2005

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

artículo científico publicado en 2010

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

scientific article published on 21 February 2019

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

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

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

artículo científico publicado en 2020

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome

scientific article published on 04 July 2019

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

scientific article published on 22 August 2019

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results

scientific article published on 03 January 2019

Hemispheric specialization in children with unilateral epileptic focus, with and without computed tomography-demonstrated lesion

artículo científico publicado en 1993

Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

artículo científico publicado en 2020

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

artículo científico publicado en 2010

Impairment of neuropsychological functions in children with medulloblastomas and astrocytomas in the posterior fossa

artículo científico publicado en 1989

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

scientific article published on 19 October 2019

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

artículo científico

Intelligence outcome in children with shunted hydrocephalus of different etiology

artículo científico publicado en 1994

Intrathecal methotrexate affects cognitive function in children with medulloblastoma

artículo científico publicado en 2002

Late neuropsychological and behavioural outcome of children surgically treated for craniopharyngioma.

artículo científico publicado en 1998

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

artículo científico publicado en 2008

Levetiracetam Pregnancy Registry: Final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations

scientific article published on 23 May 2019

MEF2C deletions and mutations versus duplications: a clinical comparison.

artículo científico publicado en 2013

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

artículo científico publicado en 2009

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

artículo científico publicado en 2020

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

artículo científico publicado en 2020

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Mowat-Wilson syndrome: growth charts

artículo científico publicado en 2020

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

artículo científico publicado en 2005

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

artículo científico publicado en 2017

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

artículo científico publicado en 2016

Neurological phenotype of Potocki-Lupski syndrome

artículo científico publicado en 2020

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

artículo científico publicado en 2012

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

artículo científico publicado en 2010

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

artículo científico publicado en 2013

Oligoyric microcephaly in a child with Williams syndrome.

artículo científico publicado en 2003

Outcome measures for children with movement disorders.

artículo científico publicado en 2018

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

artículo científico publicado en 2014

Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report

artículo científico publicado en 2001

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment

artículo científico publicado en 2019

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

artículo científico publicado en 2005

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

artículo científico publicado en 2009

Radiosurgery for cerebral AVMs in children and adolescents: the neurobehavioral outcome.

artículo científico publicado en 1997

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

scientific article published on 01 December 2008

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort

scientific article published on 21 November 2019

Sedation of neurologically impaired children undergoing MRI: a sequential approach

artículo científico publicado en 2007

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

artículo científico publicado en 2014

Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (IDDCA)

artículo científico publicado en 2020

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

artículo científico publicado en 2016

So far so close: an insight into smart working and telehealth reorganization of a Language and Learning Disorders Service in Milan during COVID-19 pandemic

artículo científico publicado en 2020

Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in Succinic Semialdehyde Dehydrogenase Deficiency

artículo científico publicado en 2020

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.

artículo científico publicado en 2015

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

artículo científico publicado en 2011

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders

artículo científico publicado en 2018

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

artículo científico publicado en 2009

Unilateral frontal lobe epilepsy affects executive functions in children

artículo científico publicado en 2005

Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification

artículo científico publicado en 2004

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

artículo científico publicado en 2020

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

artículo científico publicado en 2016

Verbal and gestural communication in children with bilateral perisylvian polymicrogyria.

artículo científico publicado en 2007

Verbal dichotic listening performance and its relationship with EEG features in benign childhood epilepsy with centrotemporal spikes

artículo científico publicado en 2008

ZC4H2 deletions can cause severe phenotype in female carriers.

artículo científico publicado en 2017

Lista de obras de

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome

A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects

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

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Abnormal cerebellar foliation in EBF3 mutation

Aicardi-Goutières syndrome: description of a late onset case

Another patient with MECP2 mutation without classic Rett syndrome phenotype

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Cognitive and behavioural effects of migraine in childhood and adolescence

Combined treatment modality for medulloblastoma in childhood: effects on neuropsychological functioning

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

Congenital muscular dystrophies with cognitive impairment. A population study.

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

Correction: Sciacca, F. L., et al. Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. Int. J. Mol. Sci. 2018, 19, 3675

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay

Diagnostic approach to cerebellar disease in children

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

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

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results

Hemispheric specialization in children with unilateral epileptic focus, with and without computed tomography-demonstrated lesion

Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

Impairment of neuropsychological functions in children with medulloblastomas and astrocytomas in the posterior fossa

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Intellectual and language findings and their relationship to EEG characteristics in benign childhood epilepsy with centrotemporal spikes

Intelligence outcome in children with shunted hydrocephalus of different etiology

Intrathecal methotrexate affects cognitive function in children with medulloblastoma

Late neuropsychological and behavioural outcome of children surgically treated for craniopharyngioma.

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

Levetiracetam Pregnancy Registry: Final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations

MEF2C deletions and mutations versus duplications: a clinical comparison.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Mowat-Wilson syndrome: growth charts

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Neurological phenotype of Potocki-Lupski syndrome

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

Oligoyric microcephaly in a child with Williams syndrome.

Outcome measures for children with movement disorders.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

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

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes

Radiosurgery for cerebral AVMs in children and adolescents: the neurobehavioral outcome.

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort

Sedation of neurologically impaired children undergoing MRI: a sequential approach