Paolo Curatolo
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Biology
Paolo Curatolo's Degrees
- PhD Neuroscience University of Milan
- Masters Biology University of Milan
- Bachelors Biotechnology University of Milan
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(Suggest an Edit or Addition)Paolo Curatolo's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial (2013) (641)
- Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study (2016) (491)
- The neurobiology of attention deficit/hyperactivity disorder. (2009) (478)
- Neurological and neuropsychiatric aspects of tuberous sclerosis complex (2015) (412)
- Tuberous sclerosis (2008) (316)
- Comorbidity of ADHD and Dyslexia (2010) (221)
- Tuberous sclerosis complex: a review of neurological aspects. (2002) (212)
- Current role of melatonin in pediatric neurology: clinical recommendations. (2015) (198)
- Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1 (2010) (193)
- Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. (2010) (183)
- Attention and executive functions profile in drug naive ADHD subtypes (2007) (181)
- Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. (2012) (181)
- Preterm birth and neurodevelopmental outcome: a review (2010) (175)
- NEUROPSYCHOLOGICAL ASPECTS OF TUBEROUS SCLEROSIS IN RELATION TO EPILEPSY AND MRI FINDINGS (1991) (153)
- TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients (2017) (151)
- Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. (2014) (147)
- The neurobiological basis of ADHD (2010) (144)
- Neuropsychiatric Aspects of Tuberous Sclerosis (1991) (140)
- Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study (2016) (133)
- Co-existing psychiatric problems in ADHD in the ADORE cohort (2006) (130)
- Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. (2018) (130)
- Recent advances in neurobiology of Tuberous Sclerosis Complex (2009) (129)
- Autism in tuberous sclerosis: evoked potential evidence for a deficit in auditory sensory processing (1999) (126)
- Epidermal nevus syndrome (1991) (124)
- Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects (1999) (123)
- Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis (2011) (119)
- Genetics and Molecular Biology of Tuberous Sclerosis Complex (2008) (119)
- Topographic Comparative Study of Magnetic Resonance Imaging and Electroencephalography in 34 Children with Tuberous Sclerosis (1990) (119)
- Infantile spasms in tuberous sclerosis complex (2001) (116)
- mTOR Inhibitors in Tuberous Sclerosis Complex (2012) (115)
- Clinical, Morphological, and Biochemical Correlates of Head Circumference in Autism (2007) (113)
- Autism and Metabolic Diseases (2008) (112)
- Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. (2015) (112)
- Urinary p-cresol is elevated in small children with severe autism spectrum disorder (2011) (108)
- Sleep architecture and NREM alterations in children and adolescents with Asperger syndrome. (2007) (106)
- Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (2013) (99)
- Principal pathogenetic components and biological endophenotypes in autism spectrum disorders (2010) (95)
- Syndromic autism: causes and pathogenetic pathways (2009) (94)
- Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study (2018) (91)
- The Relationship between Sleep Problems, Neurobiological Alterations, Core Symptoms of Autism Spectrum Disorder, and Psychiatric Comorbidities (2018) (86)
- TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study (2018) (85)
- Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial (2020) (85)
- Attention deficit hyperactivity disorder in children with epilepsy (2010) (83)
- Cognitive and behavioral effects of new antiepileptic drugs in pediatric epilepsy (2017) (82)
- The relationship between sleep and epilepsy: the effect on cognitive functioning in children (2010) (82)
- Genotype/Phenotype Correlations in Tuberous Sclerosis Complex. (2015) (79)
- Autism Spectrum Disorders in Tuberous Sclerosis: Pathogenetic Pathways and Implications for Treatment (2010) (79)
- Chikungunya and the nervous system: what we do and do not know (2009) (76)
- Autism in tuberous sclerosis. (2004) (75)
- Sleep disorders in tuberous sclerosis: a polysomnographic study (1995) (75)
- Autistic Symptoms in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis (2019) (73)
- Autism: evidence of association with adenosine deaminase genetic polymorphism (2001) (73)
- Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression (2009) (73)
- Tourette Syndrome and comorbid ADHD: current pharmacological treatment options. (2013) (73)
- Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment (2004) (72)
- Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link? (2014) (70)
- Vigabatrin for tuberous sclerosis complex (2001) (69)
- Risk and Protective Environmental Factors Associated with Autism Spectrum Disorder: Evidence-Based Principles and Recommendations (2019) (69)
- Disentangling the effects of Tourette syndrome and attention deficit hyperactivity disorder on cognitive and behavioral phenotypes (2007) (68)
- Attention and executive functions profile in childhood absence epilepsy (2012) (67)
- Efficacy of intensive versus nonintensive physiotherapy in children with cerebral palsy: a meta-analysis (2010) (67)
- Pharmacotherapy of autism spectrum disorders (2013) (66)
- The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions (2016) (65)
- Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism (2019) (65)
- Toxocara Infection and Epilepsy in Children: A Case‐Control Study (1990) (64)
- Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1 (2007) (62)
- Epilepsy surgery for tuberous sclerosis. (2004) (61)
- Increased brain apparent diffusion coefficient in tuberous sclerosis. (2004) (60)
- TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex (2014) (60)
- Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial. (2018) (60)
- A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND) (2018) (59)
- Atomoxetine hydrochloride in the treatment of children and adolescents with attention-deficit/hyperactivity disorder and comorbid oppositional defiant disorder: A placebo-controlled Italian study (2009) (58)
- The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective (2011) (56)
- Current role of vigabatrin in infantile spasms. (2007) (56)
- Levetiracetam in juvenile myoclonic epilepsy: long‐term efficacy in newly diagnosed adolescents (2008) (56)
- mTOR dysregulation and tuberous sclerosis-related epilepsy (2018) (56)
- ADHD and genetic syndromes (2011) (55)
- Current advances in childhood absence epilepsy. (2014) (55)
- Attention-Deficit Hyperactivity Disorder (ADHD) and Tuberous Sclerosis Complex (2009) (55)
- Everolimus for treatment-refractory seizures in TSC (2018) (54)
- Cluster Analysis of Autistic Patients Based on Principal Pathogenetic Components (2012) (54)
- Lamotrigine-induced seizure aggravation and negative myoclonus in idiopathic rolandic epilepsy (2004) (53)
- HERVs Expression in Autism Spectrum Disorders (2012) (53)
- Lacosamide in pediatric and adult patients: Comparison of efficacy and safety (2013) (53)
- Tuberous sclerosis. (2013) (52)
- Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. (2018) (51)
- Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges (2010) (50)
- Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis. (2010) (50)
- Is mTOR inhibition a systemic treatment for tuberous sclerosis? (2013) (50)
- Rufinamide in children and adults with Lennox–Gastaut syndrome: First Italian multicenter experience (2010) (49)
- Hypohidrosis during topiramate treatment: a rare and reversible side effect. (2006) (49)
- Tuberous Sclerosis Complex: from basic science to clinical phenotypes (2005) (49)
- Current management for epilepsy in tuberous sclerosis complex (2006) (48)
- Levetiracetam in Childhood Epilepsy (2010) (48)
- Sleep spindle activity is correlated with reading abilities in developmental dyslexia. (2009) (47)
- Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes (2011) (47)
- Long term clinical course of Tourette syndrome (2012) (47)
- Brain damage in preterm infants: etiological pathways. (2005) (46)
- Levetiracetam in absence epilepsy (2008) (46)
- Prenatal and Perinatal Determinants of Neonatal Seizures Occurring in the First Week of Life (2001) (46)
- Comorbidity between ADHD and anxiety disorders across the lifespan (2019) (45)
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome (2015) (45)
- Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC. (2016) (45)
- Developmental and epileptic encephalopathies: what we do and do not know. (2020) (44)
- Benign childhood epilepsy with centrotemporal spikes and the multicomponent model of attention: A matched control study (2010) (44)
- Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness (2018) (44)
- Frontal Lobe Epilepsy Associated With Tuberous Sclerosis: Electroencephalographic-Magnetic Resonance Image Fusioning (1998) (43)
- Genetic polymorphisms and idiopathic generalized epilepsies. (2007) (42)
- Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study (2019) (42)
- Are caesarean sections, induced labor and oxytocin regulation linked to Autism Spectrum Disorders? (2014) (42)
- mTOR inhibitors as a new therapeutic option for epilepsy (2013) (41)
- Pharmacologic treatment of autism. (2004) (41)
- Autism and Infantile Spasms in Children with Tuberous Sclerosis (1987) (41)
- Hemimegalencephaly and neurofibromatosis. (1990) (41)
- Rufinamide in refractory childhood epileptic encephalopathies other than Lennox–Gastaut syndrome (2011) (41)
- Potential for diagnosis versus therapy monitoring of attention deficit hyperactivity disorder: a new epigenetic biomarker interacting with both genotype and auto-immunity (2018) (41)
- Use of the DISCERN tool for evaluating web searches in childhood epilepsy (2014) (40)
- Management of epilepsy in tuberous sclerosis complex (2008) (39)
- The pharmacological management of Lennox-Gastaut syndrome and critical literature review (2018) (39)
- Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2017) (39)
- Human endogenous retroviruses and ADHD (2014) (39)
- Association of syndromic mental retardation and autism with 22q11.2 duplication. (2009) (38)
- Neurological manifestations of tuberous sclerosis complex (1996) (37)
- Aicardi syndrome in a male infant. (1980) (37)
- Tourette syndrome and comorbid ADHD: causes and consequences (2015) (36)
- TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study (2020) (36)
- Decreased serum arylesterase activity in autism spectrum disorders (2010) (36)
- Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations (2013) (36)
- Detection of auto-antibodies to DAT in the serum: Interactions with DAT genotype and psycho-stimulant therapy for ADHD (2015) (35)
- Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy (2009) (34)
- Refractory absence seizures: An Italian multicenter retrospective study. (2015) (34)
- The Challenge of Pharmacotherapy in Children and Adolescents with Epilepsy-ADHD Comorbidity (2017) (34)
- Gelastic Epilepsy and True Precocious Puberty due to Hypothalamic Hamartoma (1984) (34)
- Attention impairment in childhood absence epilepsy: An impulsivity problem? (2013) (34)
- Oxcarbazepine and atypical evolution of benign idiopathic focal epilepsy of childhood (2006) (33)
- Topical Review : Neurologic Aspects of Adenylosuccinate Lyase Deficiency (2001) (32)
- Changes in cerebral blood flow velocities during childhood absence seizures. (1998) (32)
- Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: a longitudinal open label trial. (2013) (31)
- Current role of rufinamide in the treatment of childhood epilepsy: literature review and treatment guidelines. (2014) (31)
- Malformations of the nervous system (2008) (31)
- Children With Autism Spectrum Disorder and Their Mothers Share Abnormal Expression of Selected Endogenous Retroviruses Families and Cytokines (2019) (31)
- Tourette Syndrome and Comorbid Conditions (2014) (29)
- Current concepts on epilepsy management in tuberous sclerosis complex (2018) (29)
- Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome (2017) (28)
- Headache and attention deficit and hyperactivity disorder in children: Common condition with complex relation and disabling consequences (2014) (28)
- Mental outcome in West syndrome: prognostic value of some clinical factors. (2008) (28)
- RISK FACTORS FOR THE COOCCURRENCE OF PARTIAL EPILEPSY, CEREBRAL PALSY AND MENTAL RETARDATION (1995) (28)
- Gelastic seizures, precocious puberty, and hypothalamic hamartoma (1986) (27)
- Neurologic aspects of adenylosuccinate lyase deficiency. (2001) (27)
- Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism (2008) (27)
- Recommendations for early diagnosis and intervention in autism spectrum disorders: an Italian-Israeli consensus conference. (2014) (27)
- Safety of Methylphenidate and Atomoxetine in Children with Attention-Deficit/Hyperactivity Disorder (ADHD): Data from the Italian National ADHD Registry (2015) (27)
- Slow EEG Amplitude Oscillations During NREM Sleep and Reading Disabilities in Children With Dyslexia (2009) (27)
- Tuberous sclerosis. (2008) (26)
- Infantile Spasms and the CHARGE Association (1983) (26)
- Zonisamide in children and young adults with refractory epilepsy: An open label, multicenter Italian study (2009) (26)
- Vigabatrin for refractory partial seizures in children with tuberous sclerosis. (1994) (25)
- Seizures in Chiari I Malformation: A Clinical and Electroencephalographic Study (1999) (25)
- Motor cortical inhibition in ADHD: modulation of the transcranial magnetic stimulation-evoked N100 in a response control task (2013) (25)
- Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations (2018) (25)
- Safety and tolerability profile of new antiepileptic drug treatment in children with epilepsy (2018) (25)
- Current role of perampanel in pediatric epilepsy (2017) (24)
- Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy (2020) (24)
- Reduction in Retinal Nerve Fiber Layer Thickness in Young Adults with Autism Spectrum Disorders (2014) (24)
- Recent Advances in the Pathogenesis of Syndromic Autisms (2009) (23)
- The neurology of attention deficit/hyperactivity disorder (2005) (23)
- Use of Atomoxetine in Patients with Attention-Deficit Hyperactivity Disorder and Co-Morbid Conditions (2009) (23)
- Magnetic source imaging and reactivity to rhythmical stimulation in tuberous sclerosis (1998) (23)
- Long term outcome in children affected by absence epilepsy with onset before the age of three years (2011) (23)
- Epilepsy in patients with Cornelia de Lange syndrome: A clinical series (2013) (22)
- Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study (2016) (22)
- White matter disruption is associated with persistent seizures in tuberous sclerosis complex (2016) (22)
- Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome. (2013) (22)
- ATP1A3-related epileptic encephalopathy responding to ketogenic diet (2018) (22)
- Autism and Epilepsy in Patients With Tuberous Sclerosis Complex (2020) (22)
- ALTERED ANANDAMIDE DEGRADATION IN ATTENTION-DEFICIT/HYPERACTIVITY DISORDER (2009) (22)
- Exanthematic diseases during pregnancy and attention-deficit/hyperactivity disorder (ADHD). (2005) (22)
- Autism Spectrum Disorder: Why Do We Know So Little? (2018) (21)
- Seizures Induced by Desloratadine, A Second-Generation Antihistamine: Clinical Observations (2013) (21)
- The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study (2021) (21)
- Motor examination in children with Attention‐Deficit/Hyperactivity Disorder and Asperger Syndrome (2012) (20)
- Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH. (2009) (20)
- De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. (2011) (20)
- Lack of Infection with XMRV or Other MLV-Related Viruses in Blood, Post-Mortem Brains and Paternal Gametes of Autistic Individuals (2011) (19)
- Rufinamide for the treatment of refractory epilepsy secondary to neuronal migration disorders (2014) (19)
- A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder. (2019) (19)
- Long-term outcome of epilepsy in patients with Prader–Willi syndrome (2014) (19)
- Two epileptic syndromes, one brain: Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes (2012) (19)
- Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (2018) (19)
- Promoting Shared Decision Making to strengthen outcome of young children with Autism Spectrum Disorders: the role of staff competence. (2015) (19)
- Differing Risk Factors for Cerebral Palsy in the Presence of Mental Retardation and Epilepsy (1999) (19)
- Levetiracetam monotherapy for childhood occipital epilepsy of gastaut (2009) (19)
- Comorbidity of ADHD and High-functioning Autism: A Pilot Study on the Utility of the Overflow Movements Measure (2016) (18)
- Planning Deficit in Children With Neurofibromatosis Type 1 (2014) (18)
- Tuberous sclerosis: relationships between topographic mapping of EEG, VEPs and MRI findings (1991) (18)
- Rufinamide for refractory focal seizures: An open-label, multicenter European study (2013) (18)
- Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study (2020) (18)
- Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? (2020) (17)
- Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder (2020) (17)
- Tuberous sclerosis: diagnostic and prognostic problems. (1985) (17)
- Early clinical and imaging (high-field MRI) diagnosis of Hallervorden-Spatz disease (1994) (17)
- Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism (2004) (17)
- Methylphenidate-induced visual hallucinations. (2011) (17)
- Massive hepatic angiomyolipoma in a young woman with tuberous sclerosis complex: significant clinical improvement during tamoxifen treatment. (2008) (17)
- Mammalian Target of Rapamycin Inhibitors and Life-Threatening Conditions in Tuberous Sclerosis Complex. (2015) (16)
- Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy (2018) (16)
- Hypnic headache in children (2011) (16)
- Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. (2000) (16)
- Rufinamide efficacy and safety as adjunctive treatment in children with focal drug resistant epilepsy: The first Italian prospective study (2012) (16)
- Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study (2019) (16)
- Risk factors for the co-occurrence of partial epilepsy, cerebral palsy and mental retardation. (1995) (16)
- Dose-dependent effect of risperidone treatment in a case of 22q13.3 deletion syndrome (2010) (16)
- Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study (2019) (16)
- Impact of Italian lockdown on Tourette's syndrome patients at the time of the COVID‐19 pandemic (2020) (16)
- Efficacy of rufinamide in drug-resistant epilepsy: a meta-analysis. (2011) (16)
- Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence. (1979) (15)
- MR imaging of incomplete band heterotopia. (1991) (15)
- Neurologic Aspects of 49,XXXXY Syndrome (2003) (15)
- Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics (2020) (15)
- Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex (2019) (15)
- Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation. (2013) (15)
- Vitamin D Deficiency and Autism Spectrum Disorder. (2020) (14)
- Antenatal diagnosis of tuberous sclerosis (1993) (14)
- Autism spectrum disorders associated with chromosomal abnormalities (2010) (14)
- GABAA receptor active steroids are altered in epilepsy patients with tuberous sclerosis (2003) (14)
- Neurological soft signs are associated with attentional dysfunction in children with attention deficit hyperactivity disorder (2016) (14)
- Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project (2020) (14)
- "Idiopathic" mental retardation and new chromosomal abnormalities (2010) (14)
- Interstitial deletion of a proximal 3p: A clinically recognisable syndrome (2007) (14)
- The value of MRI in tuberous sclerosis. (1987) (14)
- Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations A review (2008) (14)
- ADHD and Epilepsy in children with Tourette Syndrome: a triple comorbidity? (2010) (13)
- Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype (2011) (13)
- Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers (2020) (13)
- Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas (2020) (13)
- Synapses as Therapeutic Targets for Autism Spectrum Disorders: An International Symposium Held in Pavia on July 4th, 2014 (2014) (13)
- Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes (2021) (12)
- Paediatric use of melatonin (Author reply to D. J. Kennaway). (2015) (12)
- Two-loci ADA haplotypes in autistic disorder. (2002) (12)
- Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment (2004) (12)
- Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas. (2017) (12)
- Clinical and therapeutic implications of psychiatric comorbidity in high functioning autism/Asperger syndrome: An Italian study (2013) (12)
- Association study of autistic disorder and chromosome 16p (2003) (12)
- The Urine Metabolome of Young Autistic Children Correlates with Their Clinical Profile Severity (2020) (12)
- Association between presenilin-1 −48C/T polymorphism and Down’s syndrome (2004) (11)
- Role of ADHD symptoms as a contributing factor to obesity in patients with MC4R mutations. (2015) (11)
- Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype (2020) (11)
- The Decrease in Human Endogenous Retrovirus-H Activity Runs in Parallel with Improvement in ADHD Symptoms in Patients Undergoing Methylphenidate Therapy. (2018) (11)
- Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry (2019) (11)
- Fetal Brain MRI Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex. (2021) (11)
- Early‐onset pure absence epilepsy: a distinct epileptic syndrome (2011) (11)
- Surgery for drug-resistant tuberous sclerosis complex-associated epilepsy: who, when, and what. (2021) (11)
- Neurological soft signs, but not theory of mind and emotion recognition deficit distinguished children with ADHD from healthy control (2017) (11)
- Reflex myoclonic epilepsy in infancy: a critical review (2013) (11)
- Late-Onset Epileptic Spasms in Children With Pallister-Killian Syndrome: A Report of Two New Cases and Review of the Electroclinical Aspects (2010) (11)
- Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex (2009) (10)
- Neuropsychiatric impairment in children with Continuous Spikes and Waves during slow Sleep: A long‐term follow-up study (2012) (10)
- The role of −850 tumor necrosis factor-α and apolipoprotein E genetic polymorphism in patients with Down's syndrome-related dementia (2003) (10)
- Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems. (2008) (10)
- DRUGS FOR ALTERNATING HEMIPLEGIC MIGRAINE (1984) (10)
- The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy (2021) (10)
- Effects of oral administration of common antioxidant supplements on the energy metabolism of red blood cells. Attenuation of oxidative stress-induced changes in Rett syndrome erythrocytes by CoQ10 (2019) (10)
- Variability of r(22) chromosomes phenotypical expression. (1977) (10)
- Sex Differences in Autism Spectrum Disorder: Repetitive Behaviors and Adaptive Functioning (2021) (10)
- Everolimus for Retinal Astrocytic Hamartomas in Tuberous Sclerosis Complex. (2017) (9)
- Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. (2008) (9)
- Intractable epilepsy in tuberous sclerosis: is the tuber removal not enough? (2010) (9)
- Impaired Motor Timing in Tourette Syndrome: Results From a Case–Control Study in Children (2020) (9)
- Symmetrical bithalamic hyperdensities in asphyxiated full-term newborns: An early indicator of status marmoratus (1988) (9)
- Candidate gene study of HOXB1 in autism spectrum disorder (2010) (9)
- Hepatocellular adenoma associated with long-term exposure to phenobarbital: a paediatric case report (2012) (8)
- Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) (2021) (8)
- OPTICAL COHERENCE TOMOGRAPHY AND INFRARED IMAGES OF ASTROCYTIC HAMARTOMAS NOT REVEALED BY FUNDUSCOPY IN TUBEROUS SCLEROSIS COMPLEX (2017) (8)
- Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome. (1993) (8)
- Attention-deficit hyperactivity disorder and binge eating disorder in a patient with 2q21.1-q22.2 deletion. (2012) (8)
- Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. (2020) (8)
- Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition (2020) (8)
- Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor (2016) (8)
- An Italian Prospective Study on Autism Treatment: The Earlier, the Better? (2012) (8)
- Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry (2021) (7)
- Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex (2017) (7)
- OPTIC GLIOMA IN CHILDREN WITH NEUROFIBROMATOSIS (1987) (7)
- A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome. (2004) (7)
- Does cesarean section prevent mortality and cerebral ultrasound abnormalities in preterm newborns? (2007) (7)
- Anophthalmia-Waardenburg Syndrome With Expanding Phenotype: Does Neural Crest Play a Role? (2007) (7)
- MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations (2011) (7)
- Use of nutritional supplements based on melatonin, tryptophan and vitamin B6 in children with primary chronic headache, with or without sleep disorders: a pilot study. (2020) (7)
- [Magnetic resonance imaging in Bourneville's disease: relation to the EEG]. (1988) (7)
- Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway (2021) (7)
- Adjunctive everolimus therapy for tuberous sclerosis complex‐associated refractory seizures: Results from the postextension phase of EXIST‐3 (2021) (7)
- Urinary polyomavirus infections in neurodevelopmental disorders (2013) (7)
- The International Child Neurology Association: Personal View (2003) (7)
- Impairment in Flexible Regulation of Speed and Accuracy in Children with ADHD (2013) (7)
- Treatment of infantile spasms: why do we know so little? (2020) (7)
- Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations (2017) (7)
- ffi cacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex ( EXIST-1 ) : a multicentre , randomised , placebo-controlled phase 3 trial (2012) (7)
- Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy (2022) (7)
- Neuroimaging findings of Sturge–Weber Syndrome in a child with Tuberous Sclerosis (2009) (6)
- Cortical maldevelopment in congenital cytomegalovirus infection transmitted by a woman with preexisting immunity (2011) (6)
- Conceptual and methodological challenges for neuroimaging studies of autistic spectrum disorders (2010) (6)
- An update on autism spectrum disorders in children. (2013) (6)
- Focal epilepsy with ictal abdominal pain: a case report (2013) (6)
- Diagnosis of pediatric anti-NMDAR encephalitis at the onset: A clinical challenge. (2020) (6)
- MRI Appearance of Sturge-Weber Syndrome in Tuberous Sclerosis Complex: Is the Neural Crest the Culprit? (2009) (6)
- Association of Adenosine Deaminase Polymorphism With Mild Mental Retardation (2006) (6)
- Sleep problems in attention-deficit/hyperactivity disorder and autism spectrum disorder: Sex differences and parental stress (2020) (6)
- Tuberous sclerosis: genes, brain, and behaviour. (2006) (6)
- Cerebellar vermis dysplasia: diagnostic problems by CT. (1982) (6)
- Scientific Evidence for the Evaluation of Neurological Soft Signs as Atypical Neurodevelopment Markers in Childhood Neuropsychiatric Disorders (2018) (6)
- Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder (2020) (5)
- Increased chromosomal breakage in epileptic children after long-term treatment (1986) (5)
- Pharmacotherapy of idiopathic generalized epilepsies (2009) (5)
- TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex (2021) (5)
- Event-Related Potentials in ADHD Associated With Tuberous Sclerosis Complex: A Possible Biomarker of Symptoms Severity? (2020) (5)
- Convulsive disorder and the genetics of signal transduction; a study of a low molecular weight protein tyrosine phosphatase in a pediatric sample (2002) (5)
- Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation (2008) (5)
- Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report (2019) (5)
- Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex (2021) (5)
- POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings (2020) (5)
- Timing and Clinical Characteristics of Topiramate-Induced Psychosis in a Patient With Epilepsy and Tuberous Sclerosis (2014) (5)
- Can we change the course of epilepsy in tuberous sclerosis complex? (2009) (5)
- TOXOCARIASIS IN CHILDREN (1988) (5)
- The Relationship between Autism Spectrum Disorder and Tourette Syndrome in Childhood: An Overview of Shared Characteristics (2017) (5)
- Cranial dermal sinuses in childhood and adolescence. (1978) (5)
- TUBEROUS SCLEROSIS COMPLEX (2006) (5)
- Association between D18S474 locus on chromosome 18q12 and idiopathic generalized epilepsy (2007) (4)
- Auditory Mismatch Negativity in Youth Affected by Autism Spectrum Disorder With and Without Attenuated Psychosis Syndrome (2020) (4)
- Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis (2016) (4)
- Flunarizine in therapy-resistant infantile epilepsies. (1986) (4)
- Erratum: Autism spectrum disorders in tuberous sclerosis: Pathogenetic pathways and implications for treatment (Journal of Child Neurology (2010) 25:7 (873-880) DOI: 10.1177/0883073810361789) (2012) (4)
- BAEPs in infantile spasms (1989) (4)
- Pharmacotherapy for Seizures in Tuberous Sclerosis Complex (2021) (4)
- Reduction in retinal nerve fiber layer thickness in tuberous sclerosis complex (2015) (3)
- Infantile Spasms: à Neuro‐ophthalmological Study (1981) (3)
- Current role of surgery for tuberous sclerosis complex‐associated epilepsy (2022) (3)
- Immediate and prolonged-release melatonin in children with neurodevelopmental disabilities. Author reply to Prof. Zisapel. (2017) (3)
- Can biological components predict short-term evolution in Autism Spectrum Disorders? A proof-of-concept study (2016) (3)
- Polymicrogyria: A case detected by MRI (1989) (3)
- EPISTOP – INTERNATIONAL, LONG-TERM, PROSPECTIVE STUDY EVALUATING CLINICAL AND MOLECULAR BIOMARKERS OF EPILEPTOGENESIS IN A GENETIC MODEL OF EPILEPSY – TUBEROUS SCLEROSIS COMPLEX (2014) (3)
- Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex (2022) (3)
- Drug Treatments for Core Symptoms of Autism Spectrum Disorder: Unmet Needs and Future Directions (2017) (3)
- Effect of Modified-Release Methylphenidate on Cognition in Children with ADHD: Evidence from a Temporal Preparation Task (2016) (3)
- Review article Recent advances in neurobiology of Tuberous Sclerosis Complex (2009) (3)
- Education in Child Neurology: The Role of the International Child Neurology Association (ICNA) (2010) (3)
- Tubers, epileptogenic foci, and epileptogenic networks in tuberous sclerosis (2010) (3)
- Epilepsy in Tuberous Sclerosis Complex (2015) (3)
- Everolimus for subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): EXIST-1 long-term efficacy and safety results (2014) (2)
- Epilepsy and deletion syndromes of chromosome 18: Do not forget the short arm! (2008) (2)
- COVID-19 and social responsiveness: A comparison between children with Sotos syndrome and autism (2021) (2)
- Prospective serial neuropsychological study in infants with Tuberous Sclerosis Complex (TSC): First analysis from the EPISTOP Project (2017) (2)
- Aicardi syndrome in a male infant. (1980) (2)
- Tuberous sclerosis: genes, brain, and behaviour (2006) (2)
- Use of Nutraceutical Ingredient Combinations in the Management of Tension-Type Headaches with or without Sleep Disorders (2021) (2)
- Emotional Lability in Children and Adolescents Affected by Tourette Syndrome (2015) (2)
- Neurocutaneous Syndromes in Children (2006) (2)
- Omega-3/6 supplementation for mild to moderate inattentive ADHD: a randomised, double-blind, placebo-controlled efficacy study in Italian children (2022) (2)
- Effect of age on concurrent administration of phenobarbital and valproic acid. (1982) (2)
- Child neurology: role of the International Association (2004) (2)
- Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study. (2021) (2)
- Reactivation of human herpesvirus 6 infection in an immunocompetent host with chronic encephalopathy. (2002) (2)
- Deletion of the Long Arm of Chromosome 6: Report on a New Case With Intractable Epilepsy (2006) (2)
- Educational, cognitive, behavioral and language development issues. (2008) (2)
- Localization of epileptogenic foci by topographic spike mapping of eeg in tuberous sclerosis (1992) (2)
- Diffuse Polymicrogyria Associated With Congenital Hydrocephalus, Craniosynostosis, Severe Mental Retardation, and Minor Facial and Genital Anomalies (2000) (2)
- Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders (2021) (2)
- The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases (2019) (2)
- Pharmacotherapy of idiopathic generalized epilepsies. (2009) (2)
- P130 Abnormal parieto-motor connectivity in tuberous sclerosis complex (2009) (2)
- Autism in tuberous sclerosis: are risk factors identifiable and preventable? (2011) (2)
- Long‐term neurological outcome of a sextuplet pregnancy (2011) (2)
- Sustained reduction in seizure frequency with adjunctive everolimus for treatment-refractory seizures associated with tuberous sclerosis complex (TSC) in children under 6 years of age: Results from the phase 3 EXIST-3 extension phase (2017) (2)
- QUALITY OF LIFE AND BURDEN OF DISEASE IN TUBEROUS SCLEROSIS COMPLEX (TSC): FINDINGS FROM TOSCA RESEARCH PROJECT (2017) (2)
- ANTENATAL DIAGNOSIS OF TUBEROUS SCLEROSIS. AUTHOR'S REPLY (1993) (2)
- Lack of association between IDE genetic variability and Down's syndrome (2005) (2)
- Use of erythromycin to inhibit carbamazepine metabolism in children with partial complex seizures (1988) (2)
- Lack of Evidence for Association Between D2S124 and D2S111 Polymorphisms of the SCN2A Gene and Idiopathic Generalized Epilepsy With Generalized Tonic—Clonic Seizures (2007) (1)
- Magnetic resonance imaging in the Bourneville syndrome: relations with electroencephalography (1988) (1)
- Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period (2022) (1)
- P.7.d.007 A randomized, double blind, placebo-controlled, efficacy study of Omega 3/6 in children with mild to moderate inattentive ADHD – preliminary results (2017) (1)
- Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study (2021) (1)
- Clinical Reasoning: A girl presenting with stiffness episodes during sleep, café-au-lait spots, and flecked retina (2013) (1)
- miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex (2022) (1)
- Behavioural and cognitive phenotypes in tuberous sclerosis complex (2008) (1)
- TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): FURTHER RESULTS FROM THE TOSCA NATURAL HISTORY STUDY (2017) (1)
- Neurology of attention deficit/hyperactivity disorder (2008) (1)
- Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study (2022) (1)
- Early-onset schizophrenia: psychopathology and clinical features (2008) (1)
- First Results of the EPISTOP Study (2019) (1)
- TSC-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): BASELINE DATA FROM THE TOSCA INTERNATIONAL DISEASE REGISTRY (2015) (1)
- Autism Spectrum Disorder in Tuberous Sclerosis: The Preventive Value of Early Detection (2017) (1)
- Everolimus Long-Term Efficacy and Safety for the Treatment of Subependymal Giant Cell Astrocytoma (SEGA) Associated With Tuberous Sclerosis Complex (TSC) (S42.007) (2014) (1)
- INTERNATIONAL SCHOOL OF NEUROLOGICAL SCIENCES, 13th Annual Symposium of the Child Neurology Section, Venice, Italy, September 13, 2003 (2003) (1)
- European paediatric neurology societyNewsletter (1999) (1)
- Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects (2020) (1)
- Book reviewNeurocutaneous Disorders—Hemangiomas A Clinical and Diagnostic Approach, P. Panteliadis Christos, Benjamin Ramsis, Cremer Hansjörg, Hagel Christian, Omran Heymut, Anshan Ltd. (2007), hardback, 300pp., £75, ISBN: 978 1905740 642 (2008) (1)
- Modulation of the TMS-evoked N100 during a go/nogo task in children with ADHD (2014) (1)
- Tuberous sclerosis‐associated epilepsy and intellectual disability: what role does the mammalian target of rapamycin pathway play? (2020) (1)
- MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis (2020) (1)
- P01.1 Epilepsy and cognitive long-term outcome is improved by prompt seizure control in children with tuberous sclerosis (2011) (1)
- 6.45 EFFICACY STUDY OF AN OMEGA-3/6 COMBINATION FOR MILD- TO MODERATE-INATTENTIVE ADHD: A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL IN ITALIAN CHILDREN (2019) (1)
- Is it confirmed the presence of neurological soft signs in children with Neurofibromatosis type 1? (2016) (1)
- Early Onset Epilepsy Caused by Low-Grade Epilepsy-Associated Tumors and Focal Meningeal Involvement (2020) (1)
- Toward targeted treatments in tuberous sclerosis (2016) (1)
- Website and Headache: Assessment of The Information Quality using the DISCERN Tool (2016) (1)
- LifeTime and improving European healthcare through cell-based interceptive medicine (2020) (1)
- Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery (2021) (1)
- Modulation of human endogenous retroviruses and cytokines expression in peripheral blood mononuclear cells from autistic children and their parents (2022) (1)
- [Giant congenital nevus and neurocutaneous melanosis. 2 clinical cases]. (1978) (1)
- TrASDition Training: An online parental training for transition-age youth with autism spectrum disorder (2021) (1)
- Family-based association study of ITGB3 in Autism Spectrum (2010) (1)
- Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness (2014) (1)
- [2 new cases of chromosome 22 with ring structure]. (1979) (1)
- Everolimus alleviates obstructive hydrocephalus due to subependymal giant cell astrocytomas (2017) (1)
- LEVETIRACETAM AS INITIAL MONOTHERAPHY FOR IDIOPATHIC GENERALIZED EPILEPSY (2006) (0)
- William Osier The cerebral palsies of children (Classics (1988) (0)
- Vagabatrio and epilepsy : Further lessons in early childhood. Commentapy (2008) (0)
- Biochemical markers of tic disorders in children: A prospective pilot study (2017) (0)
- Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2017) (0)
- 1. Epilepsy in tuberous sclerosis (1996) (0)
- Tuberous sclerosis complex and hydrosyringomielia: Report of two cases. (2006) (0)
- Adhd and human endogenous retroviruses (2014) (0)
- Author Correction: Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome (2017) (0)
- [Pathology of chromosome 16]. (1979) (0)
- [Suspension of antiepileptic treatment in childhood]. (1981) (0)
- Outcomes in patients with tuberous sclerosis complex-associated treatment-refractory seizures, transitioning from placebo in core phase to everolimus during extension phase of the EXIST-3 trial (2017) (0)
- rs4307059 and rs4141463 study in an Italian cohort with Autism spectrum disorder (2010) (0)
- Reduction in Retinal Nerve Fiber Layer Thickness in Young Adults with Autism Spectrum Disorders (2013) (0)
- [Agenesis of the vermis cerebelli in the developmental age]. (1980) (0)
- Review article ADHD and genetic syndromes (2011) (0)
- Abstracts of the International School of Neurological Sciences 11th annual meeting of the child neurology section. Venice, Italy, September 28-29, 2001. (2001) (0)
- A novel data-driven approach reveals gene networks and biological processes underlying autism (2020) (0)
- O81 – 1871 Motor cortical inhibition in ADHD: modulation of the transcranial magnetic stimulation-evoked N100 during a go/nogo task (2013) (0)
- Clinical and Imaging Characteristics of Subependymal Giant Cell Astrocytoma in Patients with Tuberous Sclerosis Complex included in TOSCA – TuberOus SClerosis Registry to IncreAse Disease Awareness (2018) (0)
- Psychometric evaluation of quality of life measures in a three-arm, randomized, double-blind, placebo-controlled phase III study of everolimus as adjunctive therapy in patients with tuberous sclerosis complex (TSC) who have refractory partial-onset seizures (EXIST-3) (P2.057) (2017) (0)
- Neurofibromatosis: Clinical, EEG and neuroradiological features of epilepsy in the first year of life (1988) (0)
- [Epidermal nervus syndrome]. (1982) (0)
- Review article Vigabatrin for tuberous sclerosis complex (2001) (0)
- Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (2021) (0)
- Paired transcranial magnetic stimulation in tuberous sclerosis complex (2008) (0)
- Epilepsy Associated with Incontinentia Pigmenti (2015) (0)
- Headache in children and quality of life: results of 2 italian multicentre studies (2001-2003). (2004) (0)
- Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations (2017) (0)
- Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs (2023) (0)
- Questionnaire-based assessment of sleep disorders in an adult population of Tuberous Sclerosis Complex. (2022) (0)
- IAP024 Juvenile idiopathic arthritis and epileptic manifestations: report on two cases (2007) (0)
- Editorial: Tuberous Sclerosis Complex – Diagnosis and Management (2021) (0)
- INTERNATIONAL SCHOOL OF NEUROLOGICAL SCIENCES, 15th Annual Symposium of the Child Neurology Section, San Servolo - Venice, Italy, June 17-18, 2005, Meeting Convenor: Paolo Curatolo, MD (2005) (0)
- DMP08 Interstitial deletion of a proximal 3p: a clinically recognisable syndrome (2007) (0)
- [Effects of intravenous administration of chlordesmethyldiazepam on paroxysmal intercritical activity in various electroclinical forms of infantile epilepsy]. (1985) (0)
- INTERNATIONAL SCHOOL OF NEUROLOGICAL SCIENCES, 12th Annual Meeting of the Child Neurology Section, Rome, Italy, September 27-28, 2002 (2002) (0)
- Neurosteroids in developmental disorders (1998) (0)
- Presence of neurologic signs in children with neurofibromatosis type 1 (2023) (0)
- P143 Late-onset epileptic spasms in children with Pallister Killian syndrome: two new cases and review of the electroclinical aspects (2009) (0)
- Association of Trp53 polymorphic variants at codon 72 with nonsyndromic mental retardation (2007) (0)
- Safety of mTOR Inhibitors in Infants with Tuberous Sclerosis Complex (TSC): Multicenter Clinical Experience (S35.003) (2018) (0)
- Tuberous Sclerosis Complex: from basic science to clinical phenotypes ‐ NEW (2004) (0)
- Website and Headache: Assessment of Thenm䀆n Quality using the DISCERN Tool (2016) (0)
- SINGLE-VOXEL H1 MR SPECTROSCOPY OF NORMAL APPEARING WHITE MATTER IN PATIENTS WITH TUBEROUS SCLEROSIS (2006) (0)
- Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy. (2023) (0)
- AUTISTIC CHILDREN WITH EEG ABNORMALITIES AND/OR EPILEPSY: CLINICAL CHARACTERIZATION IN TWO INDEPENDENT SAMPLES (2014) (0)
- CBP014 Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism (2007) (0)
- [Plasma levels of phenobarbital in epileptic children. Effect of combination with other anticonvulsants]. (1979) (0)
- Child neurology: role of the International Association. (2004) (0)
- Imaging studies and EEG in childhood degenerations (1988) (0)
- NEUROBIOLOGICAL CAUSES OF MILD MENTAL RETARDATION: THE ROLE OF ADENOSINE DEAMINASE POLYMORPHISM (2006) (0)
- Vigabatrin in refractory partial seizures due to tuberous sclerosis (1994) (0)
- CBP017 Autism and metabolic diseases (2007) (0)
- Periventricularlaminar Heterotopia (PLH): Characterization in a Series of 18 Patients (P7.326) (2014) (0)
- Tuberous Sclerosis Complex (TSC) - Associated Epilepsy: Final Results from the TOSCA Study (2018) (0)
- PMH5 A 3-MONTH ASSESSMENT OF TREATMENT PRESCRIBED TO PATIENTS WITH ADHD AND ITS IMPACT ON CLINICAL SEVERITY AND QOL OUTCOMES ACROSS 10 EUROPEAN COUNTRIES. RESULTS FROM ATTENTION DEFICIT/ HYPERACTIVITY DISODER OBSERVATIONAL RESEARCH IN EUROPE (ADORE) (2006) (0)
- CBP07 Trp53 polymorphic variants at codon 72 and non syndromic MR (2007) (0)
- International Child Neurology Association: Current role and future perspectives (2005) (0)
- Consensus in child neurology : consensus conference on biological and clinical perspectives in Autism (2003) (0)
- Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome (2014) (0)
- Behavioural phenotypes in sex-chromosome aneuploidies (2008) (0)
- Comprar Malformations of the Nervous System | Paolo Curatolo | 9780444518965 | (2007) (0)
- Zonisamide efficacy in ESES: a case report (2008) (0)
- P144 Absence of seizures in a case of Wolf Hirschhorn syndrome with LETM1 deletion (2009) (0)
- ROLE OF -850 TNF-Á AND PSEN1 IN DOWN SYNDROME-RELATED DEMENTIA (2006) (0)
- Vigabatrin and epilepsy: Further lessons in early childhood (2008) (0)
- [The rise in convulsive pathology in the 1st 2 years of life. Prognostic aspects]. (1980) (0)
- [Computerized axial tomographic diagnosis of agenesis of the cerebellar vermis. Diagnostic difficulties]. (1981) (0)
- ATP1A3 related disease: A series of new mutations expanding clinical phenotype (2017) (0)
- Advances in Autism Spectrum Disorder (2017) (0)
- Book Reviews: Children With Disabilities, 4th edition, by Mark L. Batshaw. Published in 1997 by Paul H. Brookes Publishing, Baltimore, 992 pages, $49.95 (1999) (0)
- Risk factors for partial symptomatic epilepsies: A case-control study (1992) (0)
- Medical treatment in children with central nervous system malformations. (2008) (0)
- Effects of oral administration of common antioxidant supplements on the energy metabolism of red blood cells. Attenuation of oxidative stress-induced changes in Rett syndrome erythrocytes by CoQ10 (2019) (0)
- Preface: Embryology is the essence of understanding development. (2008) (0)
- Sleep disorders in adults with tuberous sclerosis complex: a questionnaire-based study (2022) (0)
- Disorders of Neuronal Migration (2004) (0)
- Early prediction of the response to ACTH treatment in infantile spasms (1988) (0)
- Agirlpresentingwithstiffnessepisodesduring sleep, café-au-lait spots, and flecked retina (2013) (0)
- Infantile Spasms, James D. Frost, Richard A. Hrachovy. Kluwer Academic Publishers, The Netherlands (2003), hardback, 284 pages, Price £90.00, US$ 143, Eur 130.00, ISBN 1402074824 (2005) (0)
- [Prognosis in Lennox-Gastaut syndrome]. (1981) (0)
- Corrigendum to "Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC" [J. Eur. Paediatr. Neurol. 20 (2) (2016) 203-211]. (2022) (0)
- ‘Decrease in cerebral palsy mortality among children and adolescents in Italy from 1979 to 1993′ (1999) (0)
- Efficacy and safety of adjunctive everolimus for treatment-resistant focal onset seizures in tuberous sclerosis according to age: insights from EXIST-3 (P3.146) (2017) (0)
- Leptomeningeal angiomatosis and tuberous sclerosis (2008) (0)
- INV23 The neurology of ADHD (2007) (0)
- Epilepsies symptomatic of structural lesions (2004) (0)
- Localization of seizure onset in epilepsy associated with Tuberous Sclerosis. Results of an EEG-MRI fusioning procedure (1996) (0)
- Neuromagnetic 3D localization of interictal epileptogenic foci (1994) (0)
- 3D location of interictal epileptic activity by neuromagnetic method (1995) (0)
- P59-F ERP recording shows subclinical differences in ADHD patients with and without Tuberous Sclerosis (2019) (0)
- Attention impairments in benign childhood epilepsy with centrotemporal spikes and childhood absence epilepsy (2014) (0)
- The neurology of Attention Deficit / Hyperactivity Disorder problemy neurologiczne w ADHD (2011) (0)
- NNP01 Is cesarean section protective against mortality and cerebral ultrasound abnormalities in preterm newborns (2007) (0)
- Intrafamilial heterogeneity of clinical phenotype of PRRT2 mutations (2017) (0)
- Book reviews: The New Cognitive Neuroscience (2000) (0)
- Prospective Video EEG Tracking of Infants with Tuberous Sclerosis Complex (TSC) in the First Year of Life (2018) (0)
- Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and safety” [Seizure 22 (2013) 210–216] (2014) (0)
- Mild Wolf–Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures (2010) (0)
- P63 – 1669 Rufinamide as adjunctive drug in refractory epilepsy due to neuronal migration disorders (2013) (0)
- Predictors of Efficacy in Patients with Adjunctive Everolimus Therapy for Treatment-Resistant Seizures Associated with Tuberous Sclerosis Complex (2017) (0)
- Human endogenous retrovirus in autism spectrum disorder (2012) (0)
- Clinical Case Report: CORTICAL DYSPLASIA, TEMPORAL ATROPHY, MENTAL RETARDATION, DYSMORPHIC FACIES, AND PARTIAL EPILEPSY: AN EEG AND DYNAMIC SUSCEPTIBILITY CONTRAST (DSC) MRI STUDY IN A NEW POSSIBLE GENETIC SYNDROME (2003) (0)
- Long-term efficacy and safety of everolimus for the treatment of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC) in EXIST-1: approximately 3.5 years of exposure (P2.235) (2015) (0)
- Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project (2020) (0)
- Magnetoencephalographic characterization of epileptogenic foci in tuberous sclerosis patients (1999) (0)
- Meeting Abstracts (2003) (0)
- IDENTIFICATION OF THE CRITICAL LOCUS IN A NEW FORM OF LEUCODYSTROPHY WITH PROGRESSIVE ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (2006) (0)
- Spatiotemporal localization of epileptic foci in tuberous sclerosis complex (1993) (0)
- Everolimus for treatment-refractory seizures in TSC Extension of a randomized controlled trial (0)
- P049 Hepatocellular Adenoma associated with long-term exposure to Phenobarbital (2009) (0)
- Tuberous Sclerosis (Bourneville Disease) (2022) (0)
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome (2014) (0)
- Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period (2022) (0)
- Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations (2018) (0)
- The genetics of neurological disorders (1999) (0)
- REMOVAL: PS_Abstract (2017) (0)
- 2017 Reviewer Acknowledgment (2018) (0)
- ResearchCandidate gene study of HOXB 1 in autism spectrum disorder (2010) (0)
- P24.15 Methylphenidate-induced visual hallucinations (2011) (0)
- [Dermal cranial sinuses in childhood and adolescence]. (1977) (0)
- [Computer tomography in the early diagnosis of tuberous sclerosis associated with the West syndrome]. (1982) (0)
- ETP019 Efficacy of early introduction of Vigabatrin in tuberous sclerosis complex (2007) (0)
- NEUROCOGNITIVE ENDOPHENOTYPES OF ADHD (2006) (0)
- Etiologies and pathogenetic pathways of autism R eview article (0)
- Antenatal diagnosis of tuberous sclerosis. (1993) (0)
- Advances in Understanding Autism Spectrum Disorder (2017) (0)
- NEUROPSYCHOLOGICAL ENDOPHENOTYPES IN ADHD: NEUROCOGNITIVE DEFICITS IN ADHD PATIENTS AND THEIR PARENTS (2006) (0)
- Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment (2022) (0)
- [Discontinuation of antiepilepsy treatment in the developmental age]. (1984) (0)
- The management of drug resistant seizures in tuberous sclerosis (2009) (0)
- [Flunarizine in drug-resistant epilepsies of childhood and adolescence]. (1986) (0)
- Using Machine Learning to Explore Shared Genetic Pathways and Possible Endophenotypes in Autism Spectrum Disorder (2023) (0)
- New Perspectives in Autism Spectrum Disorder associated with Tuberous Sclerosis (2017) (0)
- Seizure susceptibility in tuberous sclerosis complex (2008) (0)
- Levetiracetam: efficacy and tolerability in patients with childhood and adolescent absence seizures (2008) (0)
- Researchgene study of HOXB1 in autism spectrum disorder (2010) (0)
- ERP recording shows subclinical differences in ADHD patients with and without Tuberous Sclerosis (2019) (0)
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