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List of works by Salvatore Savasta

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

A rare cause of recurrent spontaneous pneumothorax

scientific article published on 01 May 2011

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

scientific article published on 31 July 2012

Benign convulsions associated with mild gastroenteritis: a multicenter clinical study

scientific article published on 10 December 2010

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

scientific article published on 11 February 2011

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication

scientific article published on 25 October 2015

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

scientific article

Clinical variability in children with dolichoarteriopathies of the internal carotid artery

scientific article published on 07 November 2019

Ehlers-Danlos syndrome and neurological features: a review.

scientific article published on 10 August 2010

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

scientific article published on 27 August 2013

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

scientific article

Epilepsy in patients with Cornelia de Lange syndrome: a clinical series.

scientific article published on 7 March 2013

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

scientific article

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

scientific article published on 5 October 2015

Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

scientific article published on 01 January 2015

Gelastic epilepsy without hypothalamic hamartoma: three additional cases

scientific article published on 7 July 2014

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS)

scientific article (publication date: July 1999)

Gradenigo's syndrome with abscess of the petrous apex in pediatric patients: what is the best treatment?

scientific article published on 20 August 2019

HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome ⬇️

scientific article published on May 1, 1992

Holoprosencephaly with neurogenic hypernatremia: a new case.

scientific article published on 7 August 2007

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

scientific article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Infantile mitochondria encephalomyopathies: report on 4 cases

scientific article published on 01 January 1993

Italian consensus conference on epilepsy and pregnancy, labor and puerperium.

scientific article published on January 2009

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

scientific article published on 5 January 2013

Long-term follow-up in children with benign convulsions associated with gastroenteritis

scientific article published on 14 April 2014

Long-term outcome of epilepsy in Kabuki syndrome.

scientific article published on 7 July 2011

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

scientific article published on 18 October 2014

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

scientific article published on 25 June 2014

Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.

scientific article published on 6 January 2012

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

scientific article published in November 2006

Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis

scientific article published on June 1, 1992

Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients

scientific article published on 01 November 2008

Paediatric clinically isolated syndromes: report of seven cases, differential diagnosis and literature review.

scientific article

Pai syndrome: a review

scientific article published on 10 July 2020

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

scientific article published in January 2014

Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

scientific article published on 26 July 2007

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses

scientific article published on 01 January 1990

Recurrent chest pain as the presenting manifestation of spinal meningioma

scientific article published on 01 September 1995

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

scientific article

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

scientific article published on 21 February 2012

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

scientific article

Stickler syndrome associated with epilepsy: report of three cases.

scientific article published on 27 March 2015

Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case.

scientific article

Thalamic hemorrhage in a 4-year-old child induced by nephro-vascular hypertension

scientific article published on 01 January 1989

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

scientific article published on 01 December 1994

Topiramate in frontal lobe epilepsy.

scientific article published in February 2007

Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports

scientific article published on March 2016

Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.

scientific article published on 14 June 2015

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age

scientific article published on 09 January 2010

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 15 February 2008

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