Professor Piero Pavone
University of Catania
Professor, Medicine And Medical Sciences
Italy
My co-authors include
Professor Marco Carotenuto
Prof. Mario M. Di Traglia
MD, PhD Raffaele Falsaperla
My Publications
The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative ...
Children
August 2021
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurolog...
Neuropediatrics
March 2021
Dynamic and Static Splinting for Treatment of Developmental Dysplasia of the Hip: A Sys...
Children
February 2021
Secondary Scoliosis as a Complication of Acute Transverse Myelitis in a Child
Journal of Functional Morphology and Kinesiology
June 2020
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Dupl...
Neuropediatrics
February 2020
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impa...
Molecular Genetics & Genomic Medicine
January 2020
Advanced olfactory neuroblastoma in a teenager: a clinical case and short review of lit...
Child s Nervous System
January 2020
Epileptic Seizures in Non-syndromic Megalencephaly (MEG): A Case Series in our Department
Biomedical Journal of Scientific & Technical Research
December 2019
Cerebral Palsy in Children: Evaluation of Clinical Outcomes
Biomedical Journal of Scientific & Technical Research
December 2019
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and se...
Italian Journal of Pediatrics
December 2019
Haemophilic arthropathy: A narrative review on the use of intra‐articular drugs for art...
Haemophilia
October 2019
Acute Motor Axonal Neuropathy in a 5-Month-Old Child
Journal of Pediatric Neurology
October 2019
Focal Neuropathy Mimicking Focal Dystonia in a Child: Diagnostic and Rehabilitative Tools
Journal of Functional Morphology and Kinesiology
August 2019
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndr...
Journal of Pediatric Genetics
August 2019
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhoo...
Neuropediatrics
July 2019
Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versu...
Behavioural Neurology
June 2019
Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
Frontiers in Molecular Neuroscience
May 2019
Grisel Syndrome in Pediatric Age: A Single-Center Italian Experience and Review of the ...
World Neurosurgery
May 2019
Epilepsy in Children: From Diagnosis to Treatment with Focus on Emergency
Journal of Clinical Medicine
January 2019
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center
Child s Nervous System
December 2018
Serum concentrations of perfluorinated compounds among children living in Sicily (Italy)
Toxicology Letters
December 2018
Epilepsy in Children: From Diagnosis to Treatment
October 2018
Expression of the OAS Gene Family Is Highly Modulated in Subjects Affected by Juvenile ...
International Journal of Molecular Sciences
September 2018
Grisel’s syndrome caused by Mycoplasma pneumoniae infection: a case report and review o...
Child s Nervous System
September 2018
Ptosis in childhood
Medicine
September 2018
A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion
Current Drug Safety
June 2018
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a dist...
European Journal of Medical Genetics
June 2018
Benign and severe early-life seizures: a round in the first year of life
Italian Journal of Pediatrics
May 2018
Acute hyperkinetic movement disorders in Italian paediatric emergency departments
Archives of Disease in Childhood
March 2018
Pyridoxine Add-On Treatment for the Control of Behavioral Adverse Effects Induced by Le...
Annals of Pharmacotherapy
February 2018
Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)
Acta Neurologica Scandinavica
January 2018
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Aty...
Molecular Syndromology
January 2018
Electroclinical pattern and epilepsy evolution in an infant with Miller–Dieker syndrome
Journal of Pediatric Neurosciences
January 2018
Clinical spectrum of woolly hair: indications for cerebral involvement
Italian Journal of Pediatrics
November 2017
Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic sig...
Journal of Pediatric Surgery Case Reports
September 2017
Biological Drugs in Guillain-Barré Syndrome: An Update
Current Neuropharmacology
August 2017
A New Patient with Potocki–Lupski Syndrome: A Literature Review
Journal of Pediatric Genetics
July 2017
Resuming the obsolete term “small head”: when microcephaly occurs without cognitive imp...
Neurological Sciences
July 2017
Erratum: Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients
Journal of Pediatric Epilepsy
June 2017
A clinical review on megalencephaly
Medicine
June 2017
Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients
Journal of Pediatric Epilepsy
May 2017
Pediatric status epilepticus: improved management with new drug therapies?
Expert Opinion on Pharmacotherapy
May 2017
Randomized Comparison of Helmet CPAP Versus High-Flow Nasal Cannula Oxygen in Pediatric...
Respiratory Care
May 2017
Epilepsy
May 2017
Clinical Course of N-Methyl-D-Aspartate Receptor Encephalitis and the Effectiveness of ...
Journal of Pediatric Neurology
March 2017
Therapeutic approaches to pediatric pseudotumor cerebri: New insights from literature data
International Journal of Immunopathology and Pharmacology
March 2017
Ataxia in children: early recognition and clinical evaluation
Italian Journal of Pediatrics
January 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
Proceedings of the National Academy of Sciences
January 2017
Pediatric autoimmune encephalitis
Journal of Pediatric Neurosciences
January 2017
Levetiracetam in neonatal seizures as first-line treatment: A prospective study
Journal of Pediatric Neurosciences
January 2017
Hyperprolinemia Type IA
Journal of Inborn Errors of Metabolism and Screening
January 2017
The Gut–brain axis: A new pathogenic view of neurologic symptoms – Description of a ped...
Journal of Pediatric Neurosciences
January 2017
The Role of Dendritic Cells in Central Nervous System Autoimmunity: Focusing on Multipl...
Journal of Pediatric Biochemistry
December 2016
Array-CGH in pediatric neurology: A prospective observational study
European Journal of Inflammation
October 2016
Congenital muscular dystrophy: from muscle to brain
Italian Journal of Pediatrics
August 2016
Aripiprazole for the treatment of irritability and aggression in children and adolescen...
Expert Review of Neurotherapeutics
July 2016
A girl with a 14.7 Mb 3q26.32–q28 duplication
Clinical Dysmorphology
July 2016
Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity
The Open Neurology Journal
June 2016
A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly a...
European Journal of Medical Genetics
May 2016
Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Feat...
Journal of Pediatric Neurology
April 2016
A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient w...
BMJ Case Reports
April 2016
Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type
Medicine
March 2016
Acetaminophen administration in pediatric age: an observational prospective cross-secti...
Italian Journal of Pediatrics
February 2016
Holoprosencephaly and Recurrent Episodes of Severe Neurogenic Hypernatremia
Journal of Pediatric Neurology
February 2016
Nervous system involvement in clinical peripheral inflammation: A description of three ...
Journal of Pediatric Neurosciences
January 2016
Seizures Are Not a Prevalent Feature of Wyburn-Mason Syndrome
Journal of Pediatric Epilepsy
December 2015
Nevus Sebaceous and Its Association With Neurologic Involvement
Seminars in Pediatric Neurology
December 2015
Refractory absence seizures: An Italian multicenter retrospective study
European Journal of Paediatric Neurology
November 2015
Natalizumab in multiple sclerosis: discontinuation, progressive multifocal leukoencepha...
Expert Review of Neurotherapeutics
October 2015
Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication
European Journal of Neurology
October 2015
The usefulness of immunotherapy in pediatric neurodegenerative disorders: A systematic ...
Human Vaccines & Immunotherapeutics
August 2015
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndr...
Italian Journal of Pediatrics
August 2015
Epilepsy and innate immune system: A possible immunogenic predisposition and related th...
Human Vaccines & Immunotherapeutics
August 2015
Peripheral neuropathy in a child with Mycoplasma pneumoniae infections
Journal of Pediatric Infectious Diseases
July 2015
Propranolol: Effectiveness and Failure in Infantile Cutaneous Hemangiomas
Drug Safety - Case Reports
June 2015
Legumes steam allergy in childhood: Update of the reported cases
Allergologia et Immunopathologia
March 2015
Incidence of Mediterranean Spotted Fever in Sicilian children: a clinical-epidemiologic...
International Journal of Infectious Diseases
February 2015
Hypomelanosis of Ito: a round on the frequency and type of epileptic complications
Neurological Sciences
January 2015
A Selective Mutism Arising from First Language Attrition, Successfully Treated with Par...
Psychiatry Investigation
January 2015
Asthma and hypoxia
Italian Journal of Pediatrics
January 2015
Sodium metabisulphite allergy with multiple food and drug hypersensitivities in a five-...
Allergologia et Immunopathologia
January 2015
The natural history of spinal neurofibromatosis: a critical review of clinical and gene...
Clinical Genetics
November 2014
Epileptic seizures as a manifestation of cow’s milk allergy: a studied relationship and...
Expert Review of Clinical Immunology
November 2014
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles
Italian Journal of Pediatrics
October 2014
Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013
Brain and Development
October 2014
Three Cases of Palatal Tics and Gilles De La Tourette Syndrome
Journal of Child Neurology
September 2014
Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area
Clinical EEG and Neuroscience
September 2014
Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II ins...
The Journal of Headache and Pain
September 2014
Down syndrome and arterial ischemic stroke in childhood: A potential immunologic link w...
European Journal of Paediatric Neurology
July 2014
Usefulness of video-EEG in the paediatric emergency department
Expert Review of Neurotherapeutics
June 2014
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities,...
American Journal of Medical Genetics Part A
May 2014
Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and ...
Seizure
April 2014
Targeting inflammation as a therapeutic strategy for drug-resistant epilepsies
Human Vaccines & Immunotherapeutics
March 2014
Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Ep...
Epilepsy Research
March 2014
Klippel-Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth
American Journal of Medical Genetics Part A
January 2014
Rapid Spontaneous Resolution of Fibromatosis Colli in a 3-Week-Old Girl
Case Reports in Otolaryngology
January 2014
A new clinical feature associated with familial early-onset of dystonic-guttural tics: ...
Journal of Pediatric Neurosciences
January 2014
Valproate in adolescents with photosensitive epilepsy with generalized tonic–clonic sei...
European Journal of Paediatric Neurology
January 2014
Polysomnographic evaluation of non-invasive ventilation in children with neuromuscular ...
Respirology
December 2013
The immunomodulatory effect of probiotics beyond atopy: an update
Journal of Asthma
December 2013
Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with...
The Journal of Pediatrics
December 2013
Gelastic seizures due to hypothalamic hamartoma: Rapid resolution after endoscopic tumo...
Neurocase
October 2013
Noninvasive ventilation in pediatric emergency care: a literature review and descriptio...
Expert Review of Respiratory Medicine
October 2013
Noninvasive ventilation for acute respiratory distress in children with central nervous...
Respiratory Medicine
September 2013
Clinical dissection of early onset absence epilepsy in children and prognostic implicat...
Epilepsia
August 2013
Spinal Neurofibromatosis with Central Nervous System Involvement in a Set of Twin Girls...
Neuropediatrics
June 2013
Reflex myoclonic epilepsy in infancy: a critical review
Epileptic Disorders
June 2013
Sublingual immunotherapy in preschool children: an update
Expert Review of Clinical Immunology
April 2013
Lacosamide in pediatric and adult patients: Comparison of efficacy and safety
Seizure
April 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 year
Neurogenetics
February 2013
Reflex myoclonic epilepsy in infancy: A multicenter clinical study
Epilepsy Research
February 2013
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic t...
BMJ Case Reports
January 2013
West Syndrome Treatment: New Roads for an Old Syndrome
Frontiers in Neurology
January 2013
Cutaneous and Leptomeningeal Hemangiomas With Impressive Benign Evolution
Pediatric Neurology
January 2013
The Immunomodulatory Effect of Probiotics Beyond Atopy: An Update
Journal of Allergy & Therapy
January 2013
Hemihydranencephaly: living with half brain dysfunction
Italian Journal of Pediatrics
January 2013
Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients
Journal of Pediatric Neurosciences
January 2013
Acute Glomerulonephritis in a Child withChlamydia pneumoniaeInfection: A Case Report
Case Reports in Medicine
January 2013
Vitamin D3 an ever green molecule
January 2013
Non-Epileptik Psikojen Nöbetler: Klinik Pratikte Çözülmesi Zor Tanısal Bir Problem
Nöro Psikiyatri Arşivi
December 2012
Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phen...
European Journal of Medical Genetics
December 2012
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure
European Journal of Paediatric Neurology
November 2012
Spine and brain malformations in a patient obligate carrier of MTHFR with autism and me...
Clinical Neurology and Neurosurgery
November 2012
Autonomic Dysfunction Manifesting With Asymmetric Face Flushing and Paroxysmal Nonconvu...
Journal of Child Neurology
October 2012
Primary Headaches in Children: Clinical Findings and the Association with other Conditions
International Journal of Immunopathology and Pharmacology
October 2012
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vas...
American Journal of Medical Genetics Part A
September 2012
Diagnosis and management of catamenial seizures: a review
International Journal of Women s Health
September 2012
Ohtahara syndrome with emphasis on recent genetic discovery
Brain and Development
June 2012
Congenital talipes equinovarus: an epidemiological study in Sicily
Acta Orthopaedica
April 2012
Acquired Peripheral Neuropathy: A Report on 20 Children
International Journal of Immunopathology and Pharmacology
April 2012
An 11-Year Follow-up Study of Neonatal-Onset, Bath-Induced Alternating Hemiplegia of Ch...
Journal of Child Neurology
February 2012
Microcephaly associated with Legg-Calvè-Perthes disease in two siblings
Neurological Sciences
January 2012
Hepatic echinococcosis: Clinical and therapeutic aspects
World Journal of Gastroenterology
January 2012
The role of micronutrients in the diet of HIV-1-infected individuals
Frontiers in Bioscience-Elite
January 2012
Primary headache: Role of investigations in a cohort of young children and adolescents
Pediatrics International
December 2011
Generalised epilepsy with febrile seizures plus (GEFS+): molecular analysis in a restri...
Child s Nervous System
October 2011
Long-term outcome of epilepsy in Kabuki syndrome
Seizure
October 2011
Hopkins’ syndrome
Clinical Management Issues
June 2011
P16.10 Update on childhood-onset spinal muscular atrophy: a retrospective study of 75 c...
European Journal of Paediatric Neurology
May 2011
Erratum to “Recurrent Hopkin's syndrome: A case report and review of the literature” [J...
Journal of the Neurological Sciences
April 2011
Long-term neurological outcome of a sextuplet pregnancy
Acta Paediatrica
February 2011
Acute Disseminated Encephalomyelitis: A Long-Term Prospective Study and Meta-Analysis
Neuropediatrics
December 2010
Dysembryoplastic Neuroepithelial Tumors: A Prospective Clinicopathologic and Outcome St...
Pediatric Neurology
December 2010
Recurrent Hopkin's syndrome: A case report and review of the literature
Journal of the Neurological Sciences
October 2010
Neurological Manifestations in Individuals with Pure Cutaneous or Syndromic (Ruggieri-H...
Neuropediatrics
August 2010
First case of dizygous twins with X-linked α-thalassemia/mental retardation syndrome sh...
Pediatrics International
April 2010
The neurology of coeliac disease in childhood: what is the evidence? A systematic revie...
Developmental Medicine & Child Neurology
March 2010
A boy born with multiple lesions of atrophoderma
Acta Paediatrica
March 2010
Neonatal onset of bath-induced alternating hemiplegia of childhood
European Journal of Paediatric Neurology
March 2010
Neonatal Autoimmune Hypothyroidism: A Patient Report
Journal of Pediatric Endocrinology and Metabolism
January 2010
Lissencephalic syndromes brain and beyond
January 2010
The aristaless Arx gene one gene for many interneuronopathies
Frontiers in Bioscience-Elite
January 2010
Recurrent obstructive hydrocephalus in a 4-month-old infant
Child s Nervous System
October 2009
Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of d...
European Journal of Pediatrics
October 2009
Headache in Pediatric Patients With Celiac Disease and Its Prevalence as a Diagnostic Clue
Journal of Pediatric Gastroenterology and Nutrition
August 2009
A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements
Neuropediatrics
August 2009
Ganglioneuroblastoma-associated Vitamin D Deficiency Rickets
Journal of Pediatric Hematology/Oncology
July 2009
Incidence and causes of neonatal hyperbilirubinemia in a center of Catania
Therapeutics and Clinical Risk Management
March 2009
Symptomatic hypocalcemia in an epileptic child treated with valproic acid plus lamotrig...
Cases Journal
January 2009
Voluntary selective big toe dorsal flection: pseudo-Babinski phenomenon?
Neurological Sciences
November 2008
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke
Child s Nervous System
October 2008
Infantile spasms in the setting of Sturge–Weber syndrome
Child s Nervous System
October 2008
Headache in paediatric patients with celiac disease and its prevalence as a diagnostic ...
Digestive and Liver Disease
October 2008
Neurofibromatosis type 1 and infantile spasms
Child s Nervous System
September 2008
Reply
The Journal of Pediatrics
August 2008
Pseudohypoparathyroidism Ia With Evans Syndrome
Journal of Pediatric Hematology/Oncology
August 2008
Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce T...
Journal of Clinical Gastroenterology
July 2008
Low Prevalence of Neurologic and Psychiatric Manifestations in Children with Gluten Sen...
The Journal of Pediatrics
February 2008
Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesti...
Epilepsy Research
February 2008
Otologic findings in children with gastroesophageal reflux
International Journal of Pediatric Otorhinolaryngology
November 2007
Polyneuritis Cranialis: Full Recovery after Intravenous Immunoglobulins
Pediatric Neurology
September 2007
Rotavirus and Celiac Disease
The American Journal of Gastroenterology
August 2007
Protective effects of the sigma agonist Pre-084 in the rat retina
British Journal of Ophthalmology
May 2007
Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy
European Journal of Neurology
February 2007
Callosal anomalies with interhemispheric cyst: Expanding the phenotype
Acta Paediatrica
January 2007
Chronic Yersinia Enterocolitis Infection Presenting as Intestinal Obstruction
Infectious Diseases in Clinical Practice
January 2007
Increased Antistreptococcal Antibody Titers and Anti—Basal Ganglia Antibodies in Patien...
Journal of Child Neurology
September 2006
Topical Review: Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Inf...
Journal of Child Neurology
September 2006
Blink reflex abnormalities in children with Tourette syndrome
European Journal of Neurology
August 2006
Septo-Optic Dysplasia Complex: A Heterogeneous Malformation Syndrome
Pediatric Neurology
January 2006
Clinical Heterogeneity in Familial Congenital Ptosis: Analysis of Fourteen Cases in One...
Pediatric Neurology
October 2005
STROKE IN TWO CHILDREN WITH MYCOPLASMA PNEUMONIAE INFECTION A CAUSAL OR CASUAL RELATION...
The Pediatric Infectious Disease Journal
September 2005
Callosal anomalies with interhemispheric cyst: Expanding the phenotype
Acta Paediatrica
August 2005
A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly...
Neuropediatrics
August 2005
Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal...
Neuropediatrics
August 2005
Liver transplantation in a child with celiac disease
Journal of Gastroenterology and Hepatology
May 2005
CNS findings in three cases of septo-optic dysplasia, including one with semilobar holo...
American Journal of Medical Genetics Part A
January 2005
Fetal Cells in Maternal Blood: A Six-Fold Increase in Women who have Undergone Amniocen...
Neuropediatrics
November 2004
Ophthalmological manifestations in segmental neurofibromatosis type 1
British Journal of Ophthalmology
November 2004
Epilepsy is not a Prominent Feature of Primary Autism
Neuropediatrics
August 2004
Peripheral Neuropathy as First Sign of Ulcerative Colitis in a Child
Journal of Clinical Gastroenterology
February 2004
Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection
Pediatric Neurology
February 2004
Autoimmune Hepatitis Associated with Celiac Disease in Childhood: Report of Two Cases
Journal of Gastroenterology and Hepatology
November 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
Human Molecular Genetics
March 2003
Reply to Dr Hahn
Journal of Child Neurology
February 2003
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, m...
Neuromuscular Disorders
October 2002
Lobar Holoprosencephaly
Journal of Child Neurology
July 2002
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis...
Journal of the Neurological Sciences
March 2002
Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy
European Journal of Pediatrics
January 2002
Holoprosencephaly (Lobar Form) Associated With Bilateral Vocal Cord Palsy
Journal of Child Neurology
December 2001
Long-Term Survival in a Child With Arthrogryposis Multiplex Congenita and Spinal Muscul...
Journal of Child Neurology
December 2001
Neuropsychological assessment in children with absence epilepsy
Neurology
November 2001
A Genomewide Screen for Autism Susceptibility Loci
The American Journal of Human Genetics
August 2001
Fetal Nucleated Red Blood Cell Counts in Peripheral Blood of Mothers Bearing Down Syndr...
Neuropediatrics
June 2001
Neuropsychological assessment in children with absence epilepsy
Neurology
April 2001
Lack of progression of brain atrophy in Aicardi-Goutières syndrome
Pediatric Neurology
April 2001
Hemihydranencephaly: Case Report and Literature Review
Journal of Child Neurology
March 2001
Hemihydranencephaly: Case Report and Literature Review
Journal of Child Neurology
January 2001
Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of...
American Journal of Medical Genetics
January 2001
Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report
Neuropediatrics
December 2000
Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome
European Journal of Pediatrics
November 2000
Diabetes insipidus in neurobrucellosis
Clinical Neurology and Neurosurgery
September 2000
Diffuse Polymicrogyria Associated With Congenital Hydrocephalus, Craniosynostosis, Seve...
Journal of Child Neurology
July 2000
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or ne...
American Journal of Medical Genetics
June 2000
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or ne...
American Journal of Medical Genetics
June 2000
Temporal Triangular Alopecia in Association With Mental Retardation and Epilepsy in a M...
Archives of Dermatology
March 2000
Recurrent peripheral neuropathy in a girl with celiac disease
Journal of Neurology Neurosurgery & Psychiatry
January 2000
Extraordinary intrathecal bone reaction in β-thalassaemia intermedia
The Lancet
September 1999
Marin-Amat Syndrome: Case Report and Review of the Literature
Journal of Child Neurology
April 1999
Vein of Galen Malformation and Infantile Spasms
Journal of Child Neurology
March 1999
