Alfonso K. Romano
Naples, Italy
Last Updated: 09/26/2026
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Found 25 publications
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.
Journal: Pediatric neurology
Published: July 24, 2022
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Journal: Journal of medical genetics
Published: May 24, 2022
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: April 05, 2022
Magnetic Instabilities in the Quasi-One-Dimensional K2Cr3As3 Material with Twisted Triangular Tubes.
Magnetic Instabilities in the Quasi-One-Dimensional K2Cr3As3 Material with Twisted Triangular Tubes.
Journal: Materials (Basel, Switzerland)
Published: February 16, 2022
COVID-19-associated severe mono-hemispheric encephalitis in a young infant.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: February 06, 2022
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.
Journal: European journal of medical genetics
Published: September 27, 2021
Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein-associated neurodegeneration.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 01, 2021
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Journal: Molecular genetics & genomic medicine
Published: March 06, 2020
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
Journal: Seizure
Published: February 18, 2020
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder.
Journal: JIMD reports
Published: July 15, 2019
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Journal: Neuromuscular disorders : NMD
Published: June 01, 2018
Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea.
Journal: Journal of child neurology
Published: December 07, 2016
Last Updated: 09/26/2026