EDITORIAL

por Siciliano, Gabriele, Santorelli, Filippo Maria, Battini, Roberta
Publicado 2016

Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy

por Tinelli, Francesca, Gamucci, Alessandra, Battini, Roberta, Cioni, Giovanni
Publicado 2013

Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report

por Alessandrì, Maria Grazia, Strigini, Francesca, Cioni, Giovanni, Battini, Roberta
Publicado 2020

Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus

por Fusco, Carlo, Leuzzi, Vincenzo, Striano, Pasquale, Battini, Roberta, Burlina, Alberto, Spagnoli, Carlotta
Publicado 2021

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability

por Milone, Roberta, Scalise, Roberta, Pasquariello, Rosa, Berloffa, Stefano, Ricca, Ivana, Battini, Roberta
Publicado 2021

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

por Battini, Roberta, Alessandrì, M. Grazia, Casalini, Claudia, Casarano, Manuela, Tosetti, Michela, Cioni, Giovanni
Publicado 2017

DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review

por Stoccoro, Andrea, Conti, Eugenia, Scaffei, Elena, Calderoni, Sara, Coppedè, Fabio, Migliore, Lucia, Battini, Roberta
Publicado 2023

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

por Bertini, Veronica, Azzarà, Alessia, Legitimo, Annalisa, Milone, Roberta, Battini, Roberta, Consolini, Rita, Valetto, Angelo
Publicado 2017

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

por Forli, Francesca, Bruschini, Luca, Franciosi, Beatrice, Battini, Roberta, Marinella, Gemma, Berrettini, Stefano, Lazzerini, Francesco
Publicado 2021

New Technological Approach for the Evaluation of Postural Control Abilities in Children with Developmental Coordination Disorder

por Martini, Giada, Beani, Elena, Filogna, Silvia, Menici, Valentina, Cioni, Giovanni, Battini, Roberta, Sgandurra, Giuseppina
Publicado 2022

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

por Milone, Roberta, Masson, Riccardo, Di Cosmo, Caterina, Tonacchera, Massimo, Bertini, Veronica, Guzzetta, Andrea, Battini, Roberta
Publicado 2019

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

por Milone, Roberta, Tancredi, Raffaella, Cosenza, Angela, Ferrari, Anna Rita, Scalise, Roberta, Cioni, Giovanni, Battini, Roberta
Publicado 2021

The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children

por Mazziotti, Raffaele, Scaffei, Elena, Conti, Eugenia, Marchi, Viviana, Rizzi, Riccardo, Cioni, Giovanni, Battini, Roberta, Baroncelli, Laura
Publicado 2022

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

por Della Vecchia, Stefania, Milone, Roberta, Cagiano, Romina, Calderoni, Sara, Santocchi, Elisa, Pasquariello, Rosa, Battini, Roberta, Muratori, Filippo
Publicado 2021

Further characterization of NFIB ‐associated phenotypes: Report of two new individuals

por Marinella, Gemma, Conti, Eugenia, Buchignani, Bianca, Sgherri, Giada, Pasquariello, Rosa, Giordano, Flavio, Cristofani, Paola, Battini, Roberta, Battaglia, Agatino
Publicado 2022

MECP2 duplication phenotype in symptomatic females: report of three further cases

por Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Publicado 2014

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

por Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni
Publicado 2015

Learning disabilities in neuromuscular disorders: a springboard for adult life

por Astrea, Guja, Battini, Roberta, Lenzi, Sara, Frosini, Silvia, Bonetti, Silvia, Moretti, Elena, Perazza, Silvia, Santorelli, Filippo M., Pecini, Chiara
Publicado 2016

Post-Traumatic Stress Reactions in Caregivers of Children and Adolescents/Young Adults with Severe Diseases: A Systematic Review of Risk and Protective Factors

por Carmassi, Claudia, Dell’Oste, Valerio, Foghi, Claudia, Bertelloni, Carlo Antonio, Conti, Eugenia, Calderoni, Sara, Battini, Roberta, Dell’Osso, Liliana
Publicado 2020

The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development

por Ghirardini, Elsa, Calugi, Francesco, Sagona, Giulia, Di Vetta, Federica, Palma, Martina, Battini, Roberta, Cioni, Giovanni, Pizzorusso, Tommaso, Baroncelli, Laura
Publicado 2021