Thea Giacomini

Genoa, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 55 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

First demyelinating attack in children: A twelve year single center cohort.

First demyelinating attack in children: A twelve year single center cohort.

Journal: Multiple sclerosis and related disorders

Published: September 15, 2025

Head to head comparison between arterial spin labelling MRI and [18F]FDG-PET in presurgical evaluation of epilepsy in children: the role of voxel-based asymmetry index analysis.

Head to head comparison between arterial spin labelling MRI and [18F]FDG-PET in presurgical evaluation of epilepsy in children: the role of voxel-based asymmetry index analysis.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 04, 2025

Refractory "status dyskineticus" in a child with post-herpes simplex virus 1 N-methyl-D-aspartate receptor encephalitis: a case report.

Refractory "status dyskineticus" in a child with post-herpes simplex virus 1 N-methyl-D-aspartate receptor encephalitis: a case report.

Journal: BMC neurology

Published: March 11, 2025

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: June 23, 2024

Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis.

Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis.

Journal: Neurosurgical review

Published: March 07, 2024

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.

Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.

Journal: bioRxiv : the preprint server for biology

Published: November 14, 2023

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

Journal: Neuropediatrics

Published: October 06, 2023

Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.

Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 18, 2023

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 15, 2023

Asynchronous combined central and peripheral demyelination (CCPD) in a girl with anti-MOG positivity: A case report and review of the literature.

Asynchronous combined central and peripheral demyelination (CCPD) in a girl with anti-MOG positivity: A case report and review of the literature.

Journal: Journal of neuroimmunology

Published: June 30, 2023

Showing 1-12 of 55

Last Updated: 09/26/2026