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List of works by Emilio Franzoni

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

article

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

scientific article published on 19 February 2014

A new case of idiopathic hemiplegia hemiconvulsion syndrome

scientific article published on 13 May 2010

Audit of digestive complaints and psychopathological traits in patients with eating disorders: a prospective study.

scientific article published on 9 April 2013

Bathing epilepsy: report of two Caucasian cases

scientific article published on 26 February 2010

Behçet syndrome: report of two early-onset cases treated with transfer factor

scientific article published on 01 March 1984

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

Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment

scientific article published on 28 February 2012

Cerebral ischemic involvement in Vogt-Koyanagi-Harada disease

scientific article published on 15 March 2014

Clinical and neuropsychological considerations in a case of unrecognized myoclonic epileptic jerks dramatically controlled by levetiracetam.

scientific article published on December 2010

Clinical features of benign infantile convulsions: familial and sporadic cases.

scientific article

Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy.

scientific article published on 17 June 2009

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

scientific article published in August 2015

Drama therapy and eating disorders: a historical perspective and an overview of a Bolognese project for adolescents

scientific article published on 12 February 2013

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up

article by Luciano Merlini et al published June 2012 in Muscle and Nerve

Early prednisone treatment in Duchenne muscular dystrophy

scientific article

Efficacy and safety of felbamate in children under 4 years of age: a retrospective chart review.

scientific article published on 10 July 2008

Efficacy and safety of levetiracetam in infants and young children with refractory epilepsy

scientific article published on 26 March 2007

Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study.

scientific article published on November 2005

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

scientific article

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

scientific article published on 27 August 2013

Emergent factors in eating disorders in childhood and preadolescence

scientific article published on 08 July 2010

Epilepsy and vaccinations: Italian guidelines

scientific article published on October 2013

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

scientific article

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

scientific article published on 01 January 2015

Etiology, characteristics and outcome of seizures after pediatric hematopoietic stem cell transplantation

scientific article published on 13 November 2013

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

scientific article published on 18 May 2011

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study

scientific article published on 19 October 2011

Follow-up of bone mineral density and body composition in adolescents with restrictive anorexia nervosa: role of dual-energy X-ray absorptiometry.

scientific article

Ictal pattern of EEG and muscular activation in symptomatic infantile spasms: a videopolygraphic and computer analysis

scientific article published in December 2002

Idiopathic generalized tonic-clonic epilepsy and photosensitivity: a long-term follow-up study.

scientific article published on 6 August 2009

Increased oxidative stress in epileptic children treated with valproic acid

scientific article published on 27 December 2007

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

article

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

scientific article published on 5 January 2013

Levetiracetam in absence epilepsy.

scientific article published on 19 September 2008

Levetiracetam in juvenile myoclonic epilepsy: long-term efficacy in newly diagnosed adolescents.

scientific article published in January 2008

Levetiracetam monotherapy for children and adolescents with benign rolandic seizures.

scientific article published on 3 January 2007

Levetiracetam or oxcarbazepine as monotherapy in newly diagnosed benign epilepsy of childhood with centrotemporal spikes (BECTS): an open-label, parallel group trial.

scientific article published on 20 October 2006

Life-threatening complications of posterior reversible encephalopathy syndrome in children.

scientific article published on 25 April 2014

Long term outcome in children affected by absence epilepsy with onset before the age of three years

scientific article published on 11 January 2011

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 patients with Prader-Willi syndrome.

scientific article published on 18 October 2014

MRI and CT in Krabbe's disease: case report

scientific article published on 01 August 1994

Medulloblastoma in young children: some EEG aspects.

scientific article published in January 1981

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

scientific article

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

scientific article

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer

scientific article published on 03 September 2015

No kinetic interaction between levetiracetam and cyclosporine: a case report

scientific article published on 01 April 2007

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

scientific article published on 25 November 2010

Open prospective study on oxcarbazepine in epilepsy in children: a preliminary report

scientific article published on 22 March 2006

PRES in Children Undergoing Hematopoietic Stem Cell or Solid Organ Transplantation

scientific article

Panayiotopoulos syndrome with convulsive status epilepticus at the onset: a long-term study

scientific article published on 06 June 2014

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

scientific article

Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy.

scientific article published on 14 July 2009

Psychometric evaluation of SAFA P test for eating disorders in adolescents: comparative validation with EDI-2

scientific article published on 09 February 2011

Rectal administration of sodium valproate in children

scientific article published on 01 June 1984

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

Risk factor analysis of posterior reversible encephalopathy syndrome after allogeneic hematopoietic SCT in children

article

Rufinamide in children and adults with Lennox-Gastaut syndrome: first Italian multicenter experience.

scientific article published on November 2010

Status epilepticus as a main manifestation of posterior reversible encephalopathy syndrome after pediatric hematopoietic stem cell transplantation

scientific article published on 11 October 2011

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

scientific article

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

scientific article

The characteristics and activities of child and adolescent mental health services in Italy: a regional survey

scientific article

The impact of internalizing symptoms on autistic traits in adolescents with restrictive anorexia nervosa

scientific article

The relationship between alexithymia, shame, trauma, and body image disorders: investigation over a large clinical sample

scientific article published on 18 February 2013

Thyroid hormones in children with epilepsy during long-term administration of carbamazepine and valproate.

scientific article

Topiramate effects on plasma serotonin levels in children with epilepsy.

scientific article published on 7 July 2008

Topiramate in frontal lobe epilepsy.

scientific article published in February 2007

Topiramate: effects on serum lipids and lipoproteins levels in children.

scientific article published on 3 October 2007

Total cholesterol, high-density lipoprotein cholesterol, and triglycerides in children receiving antiepileptic drugs

scientific article published on 01 September 1992

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

scientific article published in December 2006

VNS in drug resistant epilepsy: preliminary report on a small group of patients

scientific article

Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study.

scientific article

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