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List of works by Piero Pavone

A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion

scientific article published on 12 February 2018

A Selective Mutism Arising from First Language Attrition, Successfully Treated with Paroxetine-CBT Combination Treatment.

scientific article published on 30 September 2015

A boy born with multiple lesions of atrophoderma

scientific article

A child with congenital heart disease and situs viscerum inversus

scientific article published on 01 December 2008

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

scientific article

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies

scientific article

A genomewide screen for autism susceptibility loci

scientific article

A measles outbreak in Catania, Sicily: the importance of high vaccination coverage and early notification of cases for health and economic reasons.

scientific article

A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature

scientific article published on 18 April 2016

A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features.

scientific article published on 12 March 2016

A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS

scientific article

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

scientific article published on 18 September 2020

A syndrome with coarse face, mental retardation and unusual stereotyped movements*.

scientific article published in August 2009

Acetaminophen administration in pediatric age: an observational prospective cross-sectional study

scientific article published on 26 February 2016

Acute asthma in children: treatment in emergency.

scientific article published on June 2011

Acute hyperkinetic movement disorders in Italian paediatric emergency departments.

scientific article published on 8 March 2018

Adaptive psychological structure in childhood hearing impairment: audiological correlations.

scientific article

Advanced olfactory neuroblastoma in a teenager: a clinical case and short review of literature

scientific article published on 27 January 2020

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

scientific article (publication date: February 2004)

Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.

scientific article

Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure

scientific article published on 11 April 2012

Aripiprazole for the treatment of irritability and aggression in children and adolescents affected by autism spectrum disorders.

scientific article

Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center

scientific article published on 12 December 2018

Asthma and hypoxia

scientific article published on 30 September 2015

Ataxia in children: early recognition and clinical evaluation

scientific article published on 13 January 2017

Autoimmune hepatitis associated with celiac disease in childhood: report of two cases

scientific article published on 01 November 2003

Autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants

scientific article

Benign and severe early-life seizures: a round in the first year of life.

scientific article published on 15 May 2018

Bickerstaff's brainstem encephalitis (BBE) in childhood: rapid resolution after intravenous immunoglobulins treatment

scientific article published on January 2014

Biological drugs in Guillain-Barré Syndrome: an update.

scientific article published on 13 December 2016

Blepharoptosis in children: our experience at the light of literature.

scientific article published in May 2010

Blink reflex abnormalities in children with Tourette syndrome

scientific article published on 01 August 2006

Bone marrow hypoplasia associated with acute viral hepatitis in four children

scientific article published on 01 September 1999

Brain ultrasound features in multiple births due to spontaneous conception compared with assisted reproductive techniques: a cross-sectional, population-based study

scientific article

CNS findings in three cases of septo-optic dysplasia, including one with semilobar holoprosencephaly

scientific article published on 01 August 2005

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

scientific article published on 22 August 2020

Callosal anomalies with interhemispheric cyst: expanding the phenotype

scientific article

Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity

scientific article published on 31 December 2020

Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome-Literature Review

scientific article published on 04 August 2019

Chilblains-like lesions and SARS-CoV-2 in children: an overview in therapeutic approach

scientific article published on 03 November 2020

Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity.

scientific article published on 30 June 2016

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

scientific article published on 28 January 2020

Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?

scientific article published on 02 June 2018

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

scientific article published on 25 October 2015

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

scientific article published on 27 August 2013

Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument

scientific article

Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy

scientific article published on 01 March 2002

Clinical spectrum of woolly hair: indications for cerebral involvement.

scientific article published on 2 November 2017

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

scientific article (publication date: 2015)

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them

scientific article published in August 2005

Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.

scientific article published in July 2008

Congenital muscular dystrophy: from muscle to brain

scientific article

Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients

scientific article published on January 2013

Congenital talipes equinovarus: an epidemiological study in Sicily

scientific article

Correction to: advanced olfactory neuroblastoma in a teenager: a clinical case and short review of literature

scientific article published on 06 March 2020

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion

scientific article published on 15 July 2020

Diabetes insipidus in neurobrucellosis

scientific article published on 01 September 2000

Diagnosis and management of catamenial seizures: a review

scientific article

Diagnostic Clue in a Neonate with Amniotic Band Sequence

scientific article published on 01 October 2020

Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies

scientific article

Down syndrome and arterial ischemic stroke in childhood: a potential immunologic link with selective IgG4 subclass deficiency.

scientific article published on 25 February 2014

Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children

scientific article published on 01 December 2010

ENT involvement and orobuccal movements' disorders in Pandas patients: assessment and rehabilitations tools

Efficacy and safety of omalizumab in paediatric age: an update of literature data

scientific article

Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome

scientific article published on 01 July 2018

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

scientific article published on 27 August 2013

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15).

scientific article published on 23 January 2018

Epilepsy and innate immune system: A possible immunogenic predisposition and related therapeutic implications

scientific article (publication date: 2015)

Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency

scientific article published on 02 January 2019

Epilepsy is not a prominent feature of primary autism.

scientific article published in August 2004

Epileptic seizures as a manifestation of cow's milk allergy: a studied relationship and description of our pediatric experience

scientific article

Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile Dermatomyositis, Resembling an Immune Response to a dsRNA Virus Infection

article

Familial infantile hypertrophic pyloric stenosis

scientific article published on 01 June 2008

Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndrome Fetus

scientific article published on 01 June 2001

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

scientific article published in December 2004

First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.

scientific article published in April 2010

Ganglioneuroblastoma-associated vitamin D deficiency rickets.

scientific article published in July 2009

Gelastic seizures due to hypothalamic hamartoma: rapid resolution after endoscopic tumor disconnection

scientific article

Grisel syndrome in pediatric age: an Italian single center experience and review of the literature

article

Grisel's syndrome caused by Mycoplasma pneumoniae infection: a case report and review of the literature

scientific article published on 12 September 2018

Guillain-Barré syndrome after varicella zoster virus infections. A case report

scientific article published in June 2002

Haemophilic arthropathy: A narrative review on the use of intra-articular drugs for arthritis

scientific article published on 22 October 2019

Headache, migraine and obesity: an overview on plausible links

scientific article published on April 2016

Hemihydranencephaly: living with half brain dysfunction

scientific article published on 16 January 2013

Hepatic echinococcosis: clinical and therapeutic aspects.

scientific article published on April 2012

Holoprosencephaly (lobar form) associated with bilateral vocal cord palsy.

scientific article published in December 2001

HyperCKemia as a biomarker for muscular diseases.

scientific article published on March 2010

Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.

scientific article

Hypomelanosis of Ito: a round on the frequency and type of epileptic complications

scientific article

Ictal blinking, an under-recognized phenomenon: our experience and literature review

scientific article

Incidence of Mediterranean spotted fever in Sicilian children: a clinical-epidemiological observational retrospective study from 1987 to 2010.

scientific article published on 6 November 2014

Increased antistreptococcal antibody titers and anti-basal ganglia antibodies in patients with Tourette syndrome: controlled cross-sectional study

scientific article

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

scientific article published on 09 January 2017

Kawasaki's disease with paralytic ileus. A case report

scientific article published on 01 April 2006

Ketogenic diet for infants with epilepsy: A literature review

scientific article published on 28 September 2020

Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

scientific article published on 5 January 2013

Legumes steam allergy in childhood: Update of the reported cases

scientific article published on 08 January 2014

Leishmaniasis in a splenectomized thalassodrepanocytic young adult

scientific article published in October 2005

Levetiracetam in Neonatal Seizures as First-line Treatment: A Prospective Study.

scientific article published on January 2017

Liver transplantation in a child with celiac disease.

scientific article published in June 2005

Long-term neurological outcome of a sextuplet pregnancy.

scientific article published in May 2011

Long-term outcome of epilepsy in Kabuki syndrome.

scientific article published on 7 July 2011

Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity.

scientific article published on 19 November 2007

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

scientific article

Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication

scientific article published on 02 October 2018

Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy.

scientific article published on 15 May 2019

Natalizumab in multiple sclerosis: discontinuation, progressive multifocal leukoencephalopathy and possible use in children

scientific article

Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia

scientific article published on 21 December 2007

Nervous system involvement in clinical peripheral inflammation: A description of three pediatric cases

scientific article published on July 2016

Neurodevelopmental outcomes of neonatal non-epileptic paroxysmal events: a prospective study

scientific article published on 18 December 2020

Nevus Sebaceous and Its Association With Neurologic Involvement

scientific article published on 22 October 2015

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

article by Martino Ruggieri et al published 18 September 2012 in American Journal of Medical Genetics

Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood

article

Noninvasive ventilation for acute respiratory distress in children with central nervous system disorders.

scientific article published on 30 July 2013

Noninvasive ventilation in pediatric emergency care: a literature review and description of our experience

scientific article published on October 2013

Ohtahara syndrome with emphasis on recent genetic discovery.

scientific article

Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature

scientific article published on 22 July 2019

Otologic findings in children with gastroesophageal reflux.

scientific article published on 22 August 2007

Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects

scientific article published on 07 July 2020

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

scientific article published on 04 December 2019

Pediatric Autoimmune Encephalitis

scientific article published on April 2017

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

scientific article published on July 2014

Pediatric status epilepticus: improved management with new drug therapies?

scientific article published on 8 May 2017

Perinatal Femoral Fracture: A Ten-Year Observational Case Series Study

scientific article published on 01 October 2020

Peripheral neuropathy as first sign of ulcerative colitis in a child

scientific article published on 01 February 2004

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

scientific article published on 03 February 2020

Polyneuritis cranialis: full recovery after intravenous immunoglobulins

scientific article published on 01 September 2007

Polysomnographic evaluation of non-invasive ventilation in children with neuromuscular disease

scientific article

Post-influenza viral myositis: report of a case

scientific article published in March 1999

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

scientific article published on 23 April 2020

Protective effects of the sigma agonist Pre-084 in the rat retina.

scientific article published on 23 May 2007

Pseudohypoparathyroidism Ia with Evans syndrome

scientific article

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review

scientific article published on 01 September 2018

Pyridoxine Add-On Treatment for the Control of Behavioral Adverse Effects Induced by Levetiracetam in Children: A Case-Control Prospective Study.

scientific article published in February 2018

Randomized Comparison of Helmet CPAP Versus High-Flow Nasal Cannula Oxygen in Pediatric Respiratory Distress.

scientific article published on 9 May 2017

Rapid spontaneous resolution of fibromatosis colli in a 3-week-old girl.

scientific article published on 12 January 2014

Recurrent Hopkin's syndrome: A case report and review of the literature ⬇️

scientific article published on 07 August 2010

Recurrent peripheral neuropathy in a girl with celiac disease.

scientific article published in January 2000

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

scientific article

Refractory absence seizures: An Italian multicenter retrospective study.

scientific article published on 18 July 2015

Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment.

scientific article published on 26 July 2017

Rotavirus and celiac disease

scientific article published in August 2007

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

scientific article

Serum concentrations of perfluorinated compounds among children living in Sicily (Italy)

article

Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience

scientific article published on 02 June 2019

Sodium metabisulphite allergy with multiple food and drug hypersensitivities in a five-year-old child: a case report and literature review

scientific article published on 20 March 2014

Subacute sclerosing panencephalitis: a case report.

scientific article

Subclinical cardiological involvement in Sicilian patients with pure congenital muscular dystrophy

scientific article

Targeting inflammation as a therapeutic strategy for drug-resistant epilepsies: an update of new immune-modulating approaches

scientific article

Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter

scientific article published on 01 March 2000

Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome

scientific article published in October 2012

The Gut-brain Axis: A New Pathogenic View of Neurologic Symptoms - Description of a Pediatric Case.

scientific article

The immunomodulatory effect of probiotics beyond atopy: an update

scientific article published on 17 December 2013

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

scientific article

The usefulness of immunotherapy in pediatric neurodegenerative disorders: A systematic review of literature data

scientific article

Therapeutic approaches to pediatric pseudotumor cerebri: New insights from literature data

scientific article

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome

scientific article published on 22 September 2014

Tracheostomy in childhood: new causes for an old strategy

scientific article

Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome

scientific article published on 01 December 2000

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

scientific article published on 29 October 2008

Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area

scientific article

Usefulness of video-EEG in the paediatric emergency department.

scientific article published on 11 June 2014

Valproate in adolescents with photosensitive epilepsy with generalized tonic-clonic seizures only

scientific article published on 26 July 2013

Vein of Galen malformation and infantile spasms

scientific article published on 01 March 1999

Vitamin D3: an ever green molecule.

scientific article published on January 2013

Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?

scientific article

West syndrome treatment: new roads for an old syndrome

scientific article published on 12 August 2013

White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI.

scientific article published in March 2002

[Early relapse of herpes simplex encephalitis. Clinical and therapeutic implications]

scientific article published on 01 November 1999

[Early-onset of primary intestinal lymphangiectasia. A case report and diet treatment]

scientific article published on 01 December 2003

[Neonatal muscular spinal atrophy: a case report]

scientific article published on 01 March 2004

[Peutz-Jeghers syndrome. Report of a family]

scientific article published on 01 November 1998

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