Francesca Pinto
Genoa, Italy
Last Updated: 09/26/2026
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Found 11 publications
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 26, 2018
A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 13, 2017
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Journal: Neurology. Genetics
Published: March 30, 2017
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.
Journal: Seizure
Published: January 30, 2017
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Journal: Birth defects research
Published: January 20, 2017
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.
Journal: Seizure
Published: October 28, 2016
Safety of Overnight Switch from Brand-Name to Generic Levetiracetam.
Journal: Clinical drug investigation
Published: October 29, 2015
Epileptic encephalopathy with continuous spike and wave during sleep associated to periventricular leukomalacia.
Journal: Journal of child neurology
Published: December 03, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Journal: Journal of neurology
Published: January 17, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026