Roberta Battini

Affiliations
  • Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
  • Department of Clinical and Experimental Medicine, University of Pisa, 56126, Pisa, Italy.

Publications (55)

Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency.

Scientific reports
Avec: Francesco Cacciante , Mariangela Gennaro , Giulia Sagona , Raffaele Mazziotti , Leonardo Lupori , Elisa Cerri , Elena Putignano , Mark Butt , Minh-Ha T Do , John C McKew , Maria Grazia Alessandrì , Roberta Battini , Giovanni Cioni , Tommaso Pizzorusso , Laura Baroncelli

Behavioural and Emotional Changes during COVID-19 Lockdown in an Italian Paediatric Population with Neurologic and Psychiatric Disorders.

Brain sciences
Avec: Eugenia Conti , Giuseppina Sgandurra , Giacomo De Nicola , Tommaso Biagioni , Silvia Boldrini , Eleonora Bonaventura , Bianca Buchignani , Stefania Della Vecchia , Francesca Falcone , Caterina Fedi , Marisa Gazzillo , Gemma Marinella , Cristina Mazzullo , Jessica Micomonaco , Gloria Pantalone , Andrea Salvati , Gianluca Sesso , Valerio Simonelli , Greta Tolomei , Irene Troiano , Giovanni Cioni , Gabriele Masi , Filippo Muratori , Annarita Milone , Roberta Battini

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Molecular genetics and metabolism
Avec: Riccardo Montioli , Roberta Battini , Alessandro Paiardini , Manuela Tolve , Mariarita Bertoldi , Carla Carducci , Vincenzo Leuzzi , Carla Borri Voltattorni

Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity.

AJNR. American journal of neuroradiology
Avec: G Orman , S F Kralik , R Battini , B Buchignani , N K Desai , R Goetti , A Meoded , C Mitter , B Wallacher-Scholz , E Boltshauser , T A G M Huisman

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

Genes
Avec: Roberta Milone , Raffaella Tancredi , Angela Cosenza , Anna Rita Ferrari , Roberta Scalise , Giovanni Cioni , Roberta Battini

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.

Journal of pediatric genetics
Avec: Roberta Milone , Claudia Cesario , Marina Goldoni , Rosa Pasquariello , Caterina Fusilli , Agnese Giovannetti , Sabrina Giglio , Antonio Novelli , Viviana Caputo , Giovanni Cioni , Tommaso Mazza , Agatino Battaglia , Laura Bernardini , Roberta Battini

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ

Journal of neurology
Avec: Serena Mero , Leonardo Salviati , Vincenzo Leuzzi , Anna Rubegni , Cristina Calderan , Francesca Nardecchia , Daniele Galatolo , Maria Andrea Desbats , Valentina Naef , Federica Gemignani , Maria Novelli , Alessandra Tessa , Roberta Battini , Filippo M Santorelli , Maria Marchese

Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum Disorder.

Frontiers in neuroscience
Avec: Simona Lucibello , Giovanna Bertè , Tommaso Verdolotti , Martina Lucignani , Antonio Napolitano , Rosa D'Abronzo , Maria G Cicala , Elisa Pede , Daniela Chieffo , Paolo Mariotti , Cesare Colosimo , Eugenio Mercuri , Roberta Battini

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Neurology. Genetics
Avec: Salvatore Rossi , Anna Rubegni , Vittorio Riso , Melissa Barghigiani , Maria Teresa Bassi , Roberta Battini , Enrico Bertini , Cristina Cereda , Ettore Cioffi , Chiara Criscuolo , Beatrice Dal Fabbro , Clemente Dato , Maria Grazia D'Angelo , Antonio Di Muzio , Luca Diamanti , Maria Teresa Dotti , Alessandro Filla , Valeria Gioiosa , Rocco Liguori , Andrea Martinuzzi , Roberto Massa , Andrea Mignarri , Rossana Moroni , Olimpia Musumeci , Francesco Nicita , Ilaria Orologio , Laura Orsi , Elena Pegoraro , Antonio Petrucci , Massimo Plumari , Ivana Ricca , Giovanni Rizzo , Silvia Romano , Roberto Rumore , Simone Sampaolo , Marina Scarlato , Marco Seri , Cristina Stefan , Giulia Straccia , Alessandra Tessa , Lorena Travaglini , Rosanna Trovato , Lucia Ulgheri , Giovanni Vazza , Antonio Orlacchio , Gabriella Silvestri , Filippo Maria Santorelli , Mariarosa Anna Beatrice Melone , Carlo Casali

Looking for "fNIRS Signature" in Autism Spectrum: A Systematic Review Starting From Preschoolers.

Frontiers in neuroscience
Avec: Eugenia Conti , Elena Scaffei , Chiara Bosetti , Viviana Marchi , Valeria Costanzo , Valerio Dell'Oste , Raffaele Mazziotti , Liliana Dell'Osso , Claudia Carmassi , Filippo Muratori , Laura Baroncelli , Sara Calderoni , Roberta Battini

Muscle "islands": An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness.

Neuromuscular disorders : NMD
Avec: Guja Astrea , Jasper M Morrow , Adnan Manzur , Roxana Gunny , Roberta Battini , Eugenio Mercuri , Mary M Reilly , Francesco Muntoni , Tarek A Yousry

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

Translational psychiatry
Avec: Raffaele Mazziotti , Elena Scaffei , Eugenia Conti , Viviana Marchi , Riccardo Rizzi , Giovanni Cioni , Roberta Battini , Laura Baroncelli

Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Alessandro Orsini , Andrea Santangelo , Giorgio Costagliola , Massimo Scacciati , Francesco Massart , Francesca Felicia Operto , Sofia D'Elios , Rita Consolini , Fabrizio De Benedetti , Maria Cristina Maggio , Angela Miniaci , Alessandro Ferretti , Duccio Maria Cordelli , Roberta Battini , Alice Bonuccelli , Salvatore Savasta , Pasquale Parisi , Elisa Fazzi , Martino Ruggieri , Pasquale Striano , Diego Giampietro Peroni , Thomas Foiadelli , Auteur inconnu

Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.

Parkinsonism & related disorders
Avec: Filippo Manti , Mario Mastrangelo , Roberta Battini , Claudia Carducci , Carlotta Spagnoli , Carlo Fusco , Manuela Tolve , Carla Carducci , Vincenzo Leuzzi

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

Children (Basel, Switzerland)
Avec: Giada Martini , Elena Beani , Silvia Filogna , Valentina Menici , Giovanni Cioni , Roberta Battini , Giuseppina Sgandurra

Lung ultrasound in young children with neurological impairment: A proposed integrative clinical tool for deaeration-detection related to feeding.

Frontiers in pediatrics
Avec: Simona Fiori , Elena Moretti , Carolina Amador , Alice Martinelli , Rosa Teresa Scaramuzzo , Tiziana Controzzi , Roberta Battini , Luca Filippi , Andrea Guzzetta , Luna Gargani

Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.

Journal of neuromuscular diseases
Avec: Giulia Ricci , Alessandra Govoni , Francesca Torri , Guja Astrea , Bianca Buchignani , Gemma Marinella , Roberta Battini , Maria Laura Manca , Vincenzo Castiglione , Alberto Giannoni , Michele Emdin , Gabriele Siciliano

Novel

International journal of molecular sciences
Avec: 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

Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.

Neuromuscular disorders : NMD
Avec: Giorgia Coratti , Marika Pane , Claudia Brogna , Adele D'Amico , Elena Pegoraro , Luca Bello , Valeria A Sansone , Emilio Albamonte , Elisabetta Ferraroli , Elena Stacy Mazzone , Lavinia Fanelli , Sonia Messina , Maria Sframeli , Michela Catteruccia , Gianpaolo Cicala , Anna Capasso , Martina Ricci , Silvia Frosini , Giacomo De Luca , Enrica Rolle , Roberto De Sanctis , Nicola Forcina , Giulia Norcia , Luigia Passamano , Marianna Scutifero , Alice Gardani , Antonella Pini , Giulia Monaco , Maria Grazia D'Angelo , Daniela Leone , Riccardo Zanin , Gian Luca Vita , Chiara Panicucci , Claudio Bruno , Tiziana Mongini , Federica Ricci , Angela Berardinelli , Roberta Battini , Riccardo Masson , Giovanni Baranello , Claudia Dosi , Enrico Bertini , Vincenzo Nigro , Luisa Politano , Eugenio Mercuri

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Human genomics
Avec: V Alesi , S Genovese , M C Roberti , E Sallicandro , S Di Tommaso , S Loddo , V Orlando , D Pompili , C Calacci , V Mei , E Pisaneschi , M V Faggiano , A Morgia , C Mammì , G Astrea , R Battini , M Priolo , M L Dentici , R Milone , A Novelli

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

European journal of human genetics : EJHG
Avec: Fulvio D'Abrusco , Valentina Serpieri , Cecilia Maria Taccagni , Jessica Garau , Luca Cattaneo , Monica Boggioni , Simone Gana , Roberta Battini , Enrico Bertini , Ginevra Zanni , Eugen Boltshauser , Renato Borgatti , Romina Romaniello , Sabrina Signorini , Vincenzo Leuzzi , Caterina Caputi , Filippo Manti , Stefano D'Arrigo , Arianna De Laurentiis , Claudio Graziano , Johannes R Lemke , Federica Morelli , Danijela Petković Ramadža , Fabio Sirchia , Elisa Giorgio , Enza Maria Valente

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

Brain & development
Avec: Roberta Battini , Giorgia Olivieri , Roberta Milone , Federica Mazio , Roberta Scalise , Tommaso Verdolotti , Guido Primiano , Orazio Genovese , Eugenio Mercuri , Serenella Servidei

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Human mutation
Avec: Gillian I Rice , Sehoon Park , Francesco Gavazzi , Laura A Adang , Loveline A Ayuk , Lien Van Eyck , Luis Seabra , Christophe Barrea , Roberta Battini , Alexandre Belot , Stefan Berg , Thierry Billette de Villemeur , Annette E Bley , Lubov Blumkin , Odile Boespflug-Tanguy , Tracy A Briggs , Elise Brimble , Russell C Dale , Niklas Darin , François-Guillaume Debray , Valentina De Giorgis , Jonas Denecke , Diane Doummar , Gunilla Drake Af Hagelsrum , Despina Eleftheriou , Margherita Estienne , Elisa Fazzi , François Feillet , Jessica Galli , Nicholas Hartog , Julie Harvengt , Bénédicte Heron , Delphine Heron , Diedre A Kelly , Dorit Lev , Virginie Levrat , John H Livingston , Itxaso Marti , Cyril Mignot , Fanny Mochel , Marie-Christine Nougues , Ilena Oppermann , Belén Pérez-Dueñas , Bernt Popp , Mathieu P Rodero , Diana Rodriguez , Veronica Saletti , Cia Sharpe , Davide Tonduti , Gayatri Vadlamani , Keith Van Haren , Miguel Tomas Vila , Julie Vogt , Evangeline Wassmer , Arnaud Wiedemann , Callum J Wilson , Ayelet Zerem , Christiane Zweier , Sameer M Zuberi , Simona Orcesi , Adeline L Vanderver , Sun Hur , Yanick J Crow

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings.

Clinical anatomy (New York, N.Y.)
Avec: S Lucibello , T Verdolotti , F M Giordano , L Lapenta , A Infante , F Piludu , T Tartaglione , D Chieffo , C Colosimo , E Mercuri , R Battini

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

Neuromuscular disorders : NMD
Avec: Claudia Brogna , Giorgia Coratti , Rachele Rossi , Marcella Neri , Sonia Messina , Adele D' Amico , Claudio Bruno , Simona Lucibello , Gianluca Vita , Angela Berardinelli , Francesca Magri , Federica Ricci , Marina Pedemonte , Tiziana Mongini , Roberta Battini , Luca Bello , Elena Pegoraro , Giovanni Baranello , Luisa Politano , Giacomo P Comi , Valeria A Sansone , Emilio Albamonte , Alice Donati , Enrico Bertini , Nathalie Goemans , Stefano Previtali , Francesca Bovis , Marika Pane , Alessandra Ferlini , Eugenio Mercuri , Auteur inconnu

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

International journal of environmental research and public health
Avec: Claudia Carmassi , Valerio Dell'Oste , Claudia Foghi , Carlo Antonio Bertelloni , Eugenia Conti , Sara Calderoni , Roberta Battini , Liliana Dell'Osso

CASK related disorder: Epilepsy and developmental outcome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Thea Giacomini , Sara Nuovo , Ginevra Zanni , Maria Margherita Mancardi , Raffaella Cusmai , Chiara Pepi , Enrico Bertini , Enza Maria Valente , Roberta Battini , Annarita Ferrari , Romina Romaniello , Claudio Zucca , Renato Borgatti , Sara Uccella , Mariasavina Severino , Pasquale Striano , Angela Pistorio , Giulia Prato , Elisa De Grandis , Lino Nobili , Livia Pisciotta

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Journal of medical genetics
Avec: Sara Nuovo , Alessia Micalizzi , Romina Romaniello , Filippo Arrigoni , Monia Ginevrino , Antonella Casella , Valentina Serpieri , Stefano D'Arrigo , Marilena Briguglio , Grazia Gabriella Salerno , Sara Rossato , Stefano Sartori , Vincenzo Leuzzi , Roberta Battini , Bruria Ben-Zeev , Claudio Graziano , Marisol Mirabelli Badenier , Vesna Brankovic , Nardo Nardocci , Ronen Spiegel , Danijela Petković Ramadža , Giovanni Vento , Itxaso Marti , Alessandro Simonati , Savina Dipresa , Elena Freri , Tommaso Mazza , Maria Teresa Bassi , Luca Bosco , Lorena Travaglini , Ginevra Zanni , Enrico Silvio Bertini , Nicola Vanacore , Renato Borgatti , Enza Maria Valente

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

PloS one
Avec: Giorgia Coratti , Marika Pane , Claudia Brogna , Valeria Ricotti , Sonia Messina , Adele D'Amico , Claudio Bruno , Gianluca Vita , Angela Berardinelli , Elena Mazzone , Francesca Magri , Federica Ricci , Tiziana Mongini , Roberta Battini , Luca Bello , Elena Pegoraro , Giovanni Baranello , Stefano C Previtali , Luisa Politano , Giacomo P Comi , Valeria A Sansone , Alice Donati , Jean Yves Hogrel , Volker Straub , Silvana De Lucia , Erik Niks , Laurent Servais , Imelda De Groot , Mary Chesshyre , Enrico Bertini , Nathalie Goemans , Francesco Muntoni , Eugenio Mercuri , Auteur inconnu

2-Year-Old and 3-Year-Old Italian ALS Patients with Novel

Metabolites
Avec: Mukesh Gautam , Renata Del Carratore , Benjamin Helmold , Alessandra Tessa , Oge Gozutok , Navdeep Chandel , Halil Idrisoglu , Paolo Bongioanni , Roberta Battini , P Hande Ozdinler

The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.

Frontiers in neurology
Avec: Andrea Santangelo , Emanuele Bartolini , Giulia Nuzzi , Thomas Foiadelli , Alexandre Michev , Tommaso Mina , Irene Trambusti , Valeria Fichera , Alice Bonuccelli , Gabriele Massimetti , Diego G Peroni , Emanuela De Marco , Luca Coccoli , Laura Luti , Sayla Bernasconi , Margherita Nardi , Maria Cristina Menconi , Gabriella Casazza , Dario Pruna , Rosamaria Mura , Chiara Marra , Daniele Zama , Pasquale Striano , Duccio M Cordelli , Roberta Battini , Alessandro Orsini

Natural history of KBG syndrome in a large European cohort.

Human molecular genetics
Avec: Lorenzo Loberti , Lucia Pia Bruno , Stefania Granata , Gabriella Doddato , Sara Resciniti , Francesca Fava , Michele Carullo , Elisa Rahikkala , Guillaume Jouret , Leonie A Menke , Damien Lederer , Pascal Vrielynck , Lukáš Ryba , Nicola Brunetti-Pierri , Amaia Lasa-Aranzasti , Anna Maria Cueto-González , Laura Trujillano , Irene Valenzuela , Eduardo F Tizzano , Alessandro Mauro Spinelli , Irene Bruno , Aurora Currò , Franco Stanzial , Francesco Benedicenti , Diego Lopergolo , Filippo Maria Santorelli , Constantia Aristidou , George A Tanteles , Isabelle Maystadt , Tinatin Tkemaladze , Tiia Reimand , Helen Lokke , Katrin Õunap , Maria K Haanpää , Andrea Holubová , Veronika Zoubková , Martin Schwarz , Riina Žordania , Kai Muru , Laura Roht , Annika Tihveräinen , Rita Teek , Ulvi Thomson , Isis Atallah , Andrea Superti-Furga , Sabrina Buoni , Roberto Canitano , Valeria Scandurra , Annalisa Rossetti , Salvatore Grosso , Roberta Battini , Margherita Baldassarri , Maria Antonietta Mencarelli , Caterina Lo Rizzo , Mirella Bruttini , Francesca Mari , Francesca Ariani , Alessandra Renieri , Anna Maria Pinto

Congenital Myopathy as a Phenotypic Expression of

Genes
Avec: Gemma Marinella , Alessandro Orsini , Massimo Scacciati , Elisa Costa , Andrea Santangelo , Guja Astrea , Silvia Frosini , Rosa Pasquariello , Anna Rubegni , Giada Sgherri , Martina Corsi , Alice Bonuccelli , Roberta Battini

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics
Avec: Francesca Peluso , Stefano G Caraffi , Gianluca Contrò , Lara Valeri , Manuela Napoli , Giorgia Carboni , Alka Seth , Roberta Zuntini , Emanuele Coccia , Guja Astrea , Anne-Marie Bisgaard , Ivan Ivanovski , Silvia Maitz , Elise Brischoux-Boucher , Melissa T Carter , Maria Lisa Dentici , Koenraad Devriendt , Melissa Bellini , Maria Cristina Digilio , Asif Doja , David A Dyment , Stense Farholt , Carlos R Ferreira , Lynne A Wolfe , William A Gahl , Maria Gnazzo , Himanshu Goel , Sabine Weller Grønborg , Trine Hammer , Lorenzo Iughetti , Tjitske Kleefstra , David A Koolen , Francesca Romana Lepri , Gabrielle Lemire , Pedro Louro , Gary McCullagh , Simona F Madeo , Annarita Milone , Roberta Milone , Jens Erik Klint Nielsen , Antonio Novelli , Charlotte W Ockeloen , Rosario Pascarella , Tommaso Pippucci , Ivana Ricca , Stephen P Robertson , Sarah Sawyer , Marie Falkenberg Smeland , Sander Stegmann , Constanze T Stumpel , Amy Goel , Juliet M Taylor , Domenico Barbuti , Annarosa Soresina , Maria Francesca Bedeschi , Roberta Battini , Anna Cavalli , Carlo Fusco , Maria Iascone , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

American journal of human genetics
Avec: Vincenzo Salpietro , Reza Maroofian , Maha S Zaki , Jamie Wangen , Andrea Ciolfi , Sabina Barresi , Stephanie Efthymiou , Angelique Lamaze , Gabriel N Aughey , Fuad Al Mutairi , Aboulfazl Rad , Clarissa Rocca , Elisa Calì , Andrea Accogli , Federico Zara , Pasquale Striano , Majid Mojarrad , Huma Tariq , Edoardo Giacopuzzi , Jenny C Taylor , Gabriela Oprea , Volha Skrahina , Khalil Ur Rehman , Marwa Abd Elmaksoud , Mahmoud Bassiony , Huda G El Said , Mohamed S Abdel-Hamid , Maha Al Shalan , Gohun Seo , Sohyun Kim , Hane Lee , Rin Khang , Mahmoud Y Issa , Hasnaa M Elbendary , Karima Rafat , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Athina Ververi , Mara Sourmpi , Atieh Eslahi , Farhad Khadivi Zand , Mehran Beiraghi Toosi , Meisam Babaei , Adam Jackson , Auteur inconnu , Aida Bertoli-Avella , Alistair T Pagnamenta , Marcello Niceta , Roberta Battini , Antonio Corsello , Chiara Leoni , Francesco Chiarelli , Bruno Dallapiccola , Eissa Ali Faqeih , Krishnaraya K Tallur , Majid Alfadhel , Eman Alobeid , Sateesh Maddirevula , Kshitij Mankad , Siddharth Banka , Ehsan Ghayoor-Karimiani , Marco Tartaglia , Wendy K Chung , Rachel Green , Fowzan S Alkuraya , James E C Jepson , Henry Houlden

Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral Palsy.

Pediatric neurology
Avec: Daniel O Claassen , Heather R Riordan , Leon S Dure , Roberta Battini , Alma Cortez , Mark Forrest Gordon , Meaghan O'Connor , Kristi Jackson , April Foster , Mark Kosinski

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Journal of neuromuscular diseases
Avec: Marika Pane , Giorgia Coratti , Claudia Brogna , Francesca Bovis , Adele D'Amico , Elena Pegoraro , Luca Bello , Valeria Sansone , Emilio Albamonte , Elisabetta Ferraroli , Elena Stacy Mazzone , Lavinia Fanelli , Sonia Messina , Michela Catteruccia , Gianpaolo Cicala , Martina Ricci , Silvia Frosini , Giacomo De Luca , Enrica Rolle , Roberto De Sanctis , Nicola Forcina , Giulia Norcia , Luigia Passamano , Alice Gardani , Antonella Pini , Giulia Monaco , Maria Grazia D'Angelo , Anna Capasso , Daniela Leone , Riccardo Zanin , Gian Luca Vita , Chiara Panicucci , Claudio Bruno , Tiziana Mongini , Federica Ricci , Angela Berardinelli , Roberta Battini , Riccardo Masson , Giovanni Baranello , Claudia Dosi , Enrico Bertini , Luisa Politano , Eugenio Mercuri

Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember.

Neuro-ophthalmology (Aeolus Press)
Avec: Giorgio Costagliola , Michele Pio Vallario , Andrea Santangelo , Thomas Foiadelli , Maria Cristina Ragone , Roberta Battini , Francesca Tinelli , Maria Elisa Di Cicco , Alice Bonuccelli , Giovanni Gaeta , Chiara Iozzi , Diego Giampiero Peroni , Francesca Felicia Operto , Rita Consolini , Alessandro Orsini

Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study.

Bioengineering (Basel, Switzerland)
Avec: Valentina Menici , Roberta Scalise , Alessio Fasano , Egidio Falotico , Nevio Dubbini , Giuseppe Prencipe , Giuseppina Sgandurra , Silvia Filogna , Roberta Battini

Children and Young Adults with Epilepsy Exhibit an Interictal Autonomic Dysfunction: A Prospective Exploratory Study.

Brain sciences
Avec: Carmen Salluce , Marco Cocciante , Marisa Gazzillo , Anna Rita Ferrari , Roberta Battini , Filippo Maria Santorelli , Emanuele Bartolini

Age and sex prevalence estimate of Joubert syndrome in Italy.

Neurology
Avec: Sara Nuovo , Ilaria Bacigalupo , Monia Ginevrino , Roberta Battini , Enrico Bertini , Renato Borgatti , Antonella Casella , Alessia Micalizzi , Marta Nardella , Romina Romaniello , Valentina Serpieri , Ginevra Zanni , Enza Maria Valente , Nicola Vanacore , Auteur inconnu

Movement Disorders - Childhood Rating Scale 4-18 revised in children with dyskinetic cerebral palsy.

European journal of physical and rehabilitation medicine
Avec: Roberta Battini , Giuseppina Sgandurra , Valentina Menici , Roberta Scalise , Ilaria Olivieri , Roberta Di Pietro , Simona Lucibello , Maria T Giannini , Giovanni Cioni , Auteur inconnu

Expanding the clinical and genetic heterogeneity of SPAX5.

Annals of clinical and translational neurology
Avec: Claudia Dosi , Daniele Galatolo , Anna Rubegni , Stefano Doccini , Rosa Pasquariello , Claudia Nesti , Federico Sicca , Melissa Barghigiani , Roberta Battini , Alessandra Tessa , Filippo M Santorelli

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Avec: Eleonora Mauri , Elena Abati , Olimpia Musumeci , Carmelo Rodolico , Maria Grazia D'Angelo , Massimiliano Mirabella , Matteo Lucchini , Luca Bello , Elena Pegoraro , Lorenzo Maggi , Letizia Manneschi , Chiara Gemelli , Marina Grandis , Angela Zuppa , Sara Massucco , Luana Benedetti , Claudia Caponnetto , Angelo Schenone , Alessandro Prelle , Stefano C Previtali , Marina Scarlato , Adele D'Amico , Enrico Bertini , Elena M Pennisi , Laura De Giglio , Marika Pane , Eugenio Mercuri , Tiziana Mongini , Federica Ricci , Angela Berardinelli , Guja Astrea , Sara Lenzi , Roberta Battini , Giulia Ricci , Francesca Torri , Gabriele Siciliano , Filippo M Santorelli , Alessandra Ariatti , Massimiliano Filosto , Luigia Passamano , Luisa Politano , Marianna Scutifero , Paola Tonin , Barbara Fossati , Chiara Panicucci , Claudio Bruno , Sabrina Ravaglia , Mauro Monforte , Giorgio Tasca , Enzo Ricci , Antonio Petrucci , Lucio Santoro , Lucia Ruggiero , Andrea Barp , Emilio Albamonte , Valeria Sansone , Delia Gagliardi , Gianluca Costamagna , Alessandra Govoni , Francesca Magri , Roberta Brusa , Daniele Velardo , Megi Meneri , Monica Sciacco , Stefania Corti , Nereo Bresolin , Isabella Moroni , Sonia Messina , Antonio Di Muzio , Vincenzo Nigro , Rocco Liguori , Giovanni Antonini , Antonio Toscano , Carlo Minetti , Giacomo Pietro Comi , Auteur inconnu

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

PloS one
Avec: Claudia Brogna , Giorgia Coratti , Marika Pane , Valeria Ricotti , Sonia Messina , Adele D'Amico , Claudio Bruno , Gianluca Vita , Angela Berardinelli , Elena Mazzone , Francesca Magri , Federica Ricci , Tiziana Mongini , Roberta Battini , Luca Bello , Elena Pegoraro , Giovanni Baranello , Stefano C Previtali , Luisa Politano , Giacomo P Comi , Valeria A Sansone , Alice Donati , Enrico Bertini , Francesco Muntoni , Nathalie Goemans , Eugenio Mercuri , Auteur inconnu

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Journal of clinical medicine
Avec: Jessica Garau , Vanessa Cavallera , Marialuisa Valente , Davide Tonduti , Daisy Sproviero , Susanna Zucca , Domenica Battaglia , Roberta Battini , Enrico Bertini , Silvia Cappanera , Luisa Chiapparini , Camilla Crasà , Giovanni Crichiutti , Elvio Dalla Giustina , Stefano D'Arrigo , Valentina De Giorgis , Micaela De Simone , Jessica Galli , Roberta La Piana , Tullio Messana , Isabella Moroni , Nardo Nardocci , Celeste Panteghini , Cecilia Parazzini , Anna Pichiecchio , Antonella Pini , Federica Ricci , Veronica Saletti , Elisabetta Salvatici , Filippo M Santorelli , Stefano Sartori , Francesca Tinelli , Carla Uggetti , Edvige Veneselli , Giovanna Zorzi , Barbara Garavaglia , Elisa Fazzi , Simona Orcesi , Cristina Cereda

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

Audiology research
Avec: Francesca Forli , Luca Bruschini , Beatrice Franciosi , Roberta Battini , Gemma Marinella , Stefano Berrettini , Francesco Lazzerini

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

Molecular genetics and metabolism
Avec: Eleonora Mura , Francesco Nicita , Silvia Masnada , Roberta Battini , Chiara Ticci , Martino Montomoli , Angela Berardinelli , Chiara Pantaleoni , Anna Ardissone , Thomas Foiadelli , Elena Tartara , Ettore Salsano , Pierangelo Veggiotti , Isabella Ceccherini , Isabella Moroni , Enrico Bertini , Davide Tonduti

Novel translational phenotypes and biomarkers for creatine transporter deficiency.

Brain communications
Avec: Raffaele Mazziotti , Francesco Cacciante , Giulia Sagona , Leonardo Lupori , Mariangela Gennaro , Elena Putignano , Maria Grazia Alessandrì , Annarita Ferrari , Roberta Battini , Giovanni Cioni , Tommaso Pizzorusso , Laura Baroncelli

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

Italian journal of pediatrics
Avec: Carlo Fusco , Vincenzo Leuzzi , Pasquale Striano , Roberta Battini , Alberto Burlina , Auteur inconnu , Carlotta Spagnoli

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

Children (Basel, Switzerland)
Avec: Stefania Della Vecchia , Roberta Milone , Romina Cagiano , Sara Calderoni , Elisa Santocchi , Rosa Pasquariello , Roberta Battini , Filippo Muratori

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

Journal of clinical medicine
Avec: Chiara Ticci , Daniele Orsucci , Anna Ardissone , Luca Bello , Enrico Bertini , Irene Bonato , Claudio Bruno , Valerio Carelli , Daria Diodato , Stefano Doccini , Maria Alice Donati , Claudia Dosi , Massimiliano Filosto , Chiara Fiorillo , Chiara La Morgia , Costanza Lamperti , Silvia Marchet , Diego Martinelli , Carlo Minetti , Maurizio Moggio , Tiziana Enrica Mongini , Vincenzo Montano , Isabella Moroni , Olimpia Musumeci , Elia Pancheri , Elena Pegoraro , Guido Primiano , Elena Procopio , Anna Rubegni , Roberta Scalise , Monica Sciacco , Serenella Servidei , Gabriele Siciliano , Costanza Simoncini , Deborah Tolomeo , Paola Tonin , Antonio Toscano , Flavia Tubili , Michelangelo Mancuso , Roberta Battini , Filippo Maria Santorelli

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

Genes
Avec: Alessandro Orsini , Andrea Santangelo , Francesca Bravin , Alice Bonuccelli , Diego 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 Operto , Grazia Pastorino , Esra Sarigecili , Esra Sardaroglu , Cetin Okuyaz , Sevgan Bozdogan , Luciana Musante , Flavio Faletra , Caterina Zanus , Alessandro Ferretti , Federico Vigevano , Pasquale Striano , Duccio Maria Cordelli

De novo GRIN2A variants associated with epilepsy and autism and literature review.

Epilepsy & behavior : E&B
Avec: Giuseppe Donato Mangano , Antonella Riva , Antonina Fontana , Vincenzo Salpietro , Giuseppa Renata Mangano , Giulia Nobile , Alessandro Orsini , Michele Iacomino , Roberta Battini , Guja Astrea , Pasquale Striano , Rosaria Nardello

Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Journal of neurology
Avec: Daniele Sabbatini , Aurora Fusto , Sara Vianello , Matteo Villa , Joanna Janik , Grazia D'Angelo , Eleonora Diella , Francesca Magri , Giacomo P Comi , Chiara Panicucci , Claudio Bruno , Adele D'Amico , Enrico Bertini , Guja Astrea , Roberta Battini , Luisa Politano , Riccardo Masson , Giovanni Baranello , Stefano C Previtali , Sonia Messina , Gianluca Vita , Angela Berardinelli , Tiziana Mongini , Antonella Pini , Marika Pane , Eugenio Mercuri , Eric P Hoffman , Lauren Morgenroth , Heather Gordish-Dressman , Tina Duong , Craig M McDonald , Luca Bello , Elena Pegoraro

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Enrico Bertini 14 collaborations
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None None 9 collaborations
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