Roberta Battini (R Battini)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 28

Top Topics

Saccharomyces Cerevisiae

Spectrum Disorder

Duchenne Muscular Dystrophy

Top Venues

International journal of molecular sciences

Bioengineering (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Francesca M A Papoff, Guja Astrea, Serena Mero, Laura Chicca, Sara Satolli, Rosa Pasquariello, Roberta Battini, Alessandra Tessa, Filippo M Santorelli
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature. Neuropediatrics (2024)
Valentina Menici, Roberta Scalise, Alessio Fasano, Egidio Falotico, Nevio Dubbini, Giuseppe Prencipe, Giuseppina Sgandurra, Silvia Filogna, Roberta Battini
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study. Bioengineering (Basel, Switzerland) 11 (2) (2024)
Valentina Menici, Roberta Scalise, Alessio Fasano, Egidio Falotico, Nevio Dubbini, Giuseppe Prencipe, Giuseppina Sgandurra, Silvia Filogna, Roberta Battini
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study. Bioengineering (Basel, Switzerland) 11 (2) (2024)
Valentina Menici, Roberta Scalise, Alessio Fasano, Egidio Falotico, Nevio Dubbini, Giuseppe Prencipe, Giuseppina Sgandurra, Silvia Filogna, Roberta Battini
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study. Bioengineering (Basel, Switzerland) 11 (2) (2024)
Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus. Behavioural neurology 2024 (2024)
Chenelle A Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D Moira Glerum, Claudia Nesti
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae . International journal of molecular sciences 24 (23) (2023)
Elena Scaffei, Raffaele Mazziotti, Eugenia Conti, Valeria Costanzo, Sara Calderoni, Andrea Stoccoro, Claudia Carmassi, Raffaella Tancredi, Laura Baroncelli, Roberta Battini
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers. Brain sciences 13 (6) (2023)
Elena Scaffei, Raffaele Mazziotti, Eugenia Conti, Valeria Costanzo, Sara Calderoni, Andrea Stoccoro, Claudia Carmassi, Raffaella Tancredi, Laura Baroncelli, Roberta Battini
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers. Brain sciences 13 (6) (2023)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Mirabella, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Silvia Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M Santorelli, Roberta Battini
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. International journal of molecular sciences 23 (23) (2022)
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia
Further characterization of NFIB-associated phenotypes: Report of two new individuals. American journal of medical genetics. Part A (2022)
Alessandro Orsini, Thomas Foiadelli, Attilio Sica, Andrea Santangelo, Niccolò Carli, Alice Bonuccelli, Rita Consolini, Sofia D'Elios, Nicolò Loddo, Alberto Verrotti, Giuseppe Di Cara, Chiara Marra, Maria Califano, Anna Fetta, Marianna Fabi, Stefania Bergamoni, Aglaia Vignoli, Roberta Battini, Marta Mosca, Chiara Baldini, Nadia Assanta, Pietro Marchese, Gabriele Simonini, Edoardo Marrani, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Salvatore Savasta, Giuseppe Santangelo, Virginia Pedrinelli, Gabriele Massimetti, Liliana Dell'Osso, Diego Giampietro Peroni, Duccio Maria Cordelli, Martina Corsi, Claudia Carmassi
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study. International journal of environmental research and public health 19 (17) (2022)
Veronica Bertini, Roberta Milone, Paola Cristofani, Francesca Cambi, Chiara Bosetti, Filippo Barbieri, Silvano Bertelloni, Giovanni Cioni, Angelo Valetto, Roberta Battini
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances. Genes 13 (5) (2022)
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Giampietro Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients. Genes 13 (2) (2022)
Mukesh Gautam, Renata Del Carratore, Benjamin Helmold, Alessandra Tessa, Oge Gozutok, Navdeep Chandel, Halil Idrisoglu, Paolo Bongioanni, Roberta Battini, P Hande Özdinler
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma. Metabolites 12 (2) (2022)
Stefania Della Vecchia, Roberta Milone, Romina Cagiano, Sara Calderoni, Elisa Santocchi, Rosa Pasquariello, Roberta Battini, Filippo Muratori
Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review. Children (Basel, Switzerland) 8 (6) (2021)
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini
Clinical, molecular and glycophenotype insights in SLC39A8-CDG. Orphanet journal of rare diseases 16 (1) (2021)
Roberta Milone, Raffaella Tancredi, Angela Cosenza, Anna Rita Ferrari, Roberta Scalise, Giovanni Cioni, Roberta Battini
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype. Genes 12 (11) (2021)
Gunes Orman, Stephen F Kralik, Roberta Battini, Bianca Buchignani, Nilesh K Desai, Robert Goetti, Avner Meoded, Christian Mitter, B Wallacher-Scholz, Eugen Boltshauser, Thierry A G M Huisman
Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity. AJNR. American journal of neuroradiology 42 (6) (2021)
Laura Biagi, Sara Lenzi, Emilio Cipriano, Simona Fiori, Paolo Bosco, Paola Cristofani, Guia Astrea, Antonella Pini, Giovanni Cioni, Eugenio Mercuri, Michela Tosetti, Roberta Battini
Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging. PloS one 16 (5) (2021)
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
NGS in Hereditary Ataxia: When Rare Becomes Frequent. International journal of molecular sciences 22 (16) (2021)
Francesca Forli, Luca Bruschini, Beatrice Franciosi, Roberta Battini, Gemma Marinella, Stefano Berrettini, Francesco Lazzerini
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review. Audiology research 11 (4) (2021)
Roberta Milone, Roberta Scalise, Rosa Pasquariello, Stefano Berloffa, Ivana Ricca, Roberta Battini
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability. Genes 12 (4) (2021)
Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Silvio Peluso, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. Journal of clinical medicine 10 (15) (2021)
Daniele Galatolo, Molly E Kuo, Patrick Mullen, Rebecca Meyer-Schuman, Stefano Doccini, Roberta Battini, Maria Lieto, Alessandra Tessa, Alessandro Filla, Christopher Francklyn, Anthony Antonellis, Filippo Maria Santorelli
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Human mutation 41 (7) (2020)
Roberta Milone, Riccardo Masson, Caterina Di Cosmo, Massimo Tonacchera, Veronica Bertini, Andrea Guzzetta, Roberta Battini
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? Child neurology open 6 (2019)