Simona Orcesi

Affiliations

Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

Publications (62)

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Stem cell research

Avec: Stefania Masneri , Gaetana Lanzi , Rosalba Monica Ferraro , Chiara Barisani , Giovanna Piovani , Giulia Savio , Marco Cattalini , Jessica Galli , Cristina Cereda , Marco Muzi-Falconi , Simona Orcesi , Elisa Fazzi , Silvia Giliani

Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother-infant dyads.

Journal of affective disorders

Avec: C Pisoni , S Spairani , F Manzoni , G Ariaudo , C Naboni , M Moncecchi , U Balottin , C Tinelli , B Gardella , C Tzialla , M Stronati , L Bollani , S Orcesi

Cortical malformations and COL4A1 mutation: Three new cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: G Vitale , A Pichiecchio , F Ormitti , D Tonduti , A Asaro , L Farina , B Piccolo , A Percesepe , S Bastianello , S Orcesi , 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

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Molecular genetics and metabolism

Avec: Silvia Masnada , Catherine Sarret , Clara Eleonora Antonello , Ala Fadilah , Heiko Krude , Eleonora Mura , Santosh Mordekar , Francesco Nicita , Sara Olivotto , Simona Orcesi , Francesco Porta , Ganaelle Remerand , Barbara Siri , Nina-Maria Wilpert , Pouneh Amir-Yazdani , Enrico Bertini , Markus Schuelke , Geneviève Bernard , Odile Boespflug-Tanguy , Davide Tonduti

Case Report: Novel Compound Heterozygous

Frontiers in immunology

Avec: Jessica Garau , Silvia Masnada , Francesca Dragoni , Daisy Sproviero , Federico Fogolari , Stella Gagliardi , Giana Izzo , Costanza Varesio , Simona Orcesi , Pierangelo Veggiotti , Gian Vincenzo Zuccotti , Orietta Pansarasa , Davide Tonduti , Cristina Cereda

EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Avec: Silvia Masnada , Enrico Alfei , Manuela Formica , Roberto Previtali , Patrizia Accorsi , Filippo Arrigoni , Paolo Bonanni , Renato Borgatti , Francesca Darra , Carlo Fusco , Valentina De Giorgis , Lucio Giordano , Francesca La Briola , Simona Orcesi , Elisa Osanni , Cecilia Parazzini , Lorenzo Pinelli , Erika Rebessi , Romina Romaniello , Antonino Romeo , Carlotta Spagnoli , Christian Uebler , Costanza Varesio , Maurizio Viri , Claudio Zucca , Anna Pichiecchio , Pierangelo Veggiotti

Is Brain-Derived Neurotropic Factor Methylation Involved in the Association Between Prenatal Stress and Maternal Postnatal Anxiety During the COVID-19 Pandemic?

Frontiers in psychiatry

Avec: Livio Provenzi , Marco Villa , Fabiana Mambretti , Andrea Citterio , Serena Grumi , Emanuela Bertazzoli , Giacomo Biasucci , Lidia Decembrino , Barbara Gardella , Roberta Giacchero , Maria Luisa Magnani , Renata Nacinovich , Camilla Pisoni , Federico Prefumo , Simona Orcesi , Barbara Scelsa , Roberto Giorda , Renato Borgatti

Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.

Frontiers in endocrinology

Avec: Francesca Dragoni , Jessica Garau , Simona Orcesi , Costanza Varesio , Matteo Bordoni , Eveljn Scarian , Rosalinda Di Gerlando , Elisa Fazzi , Roberta Battini , Altea Gjurgjaj , Bartolo Rizzo , Orietta Pansarasa , Stella Gagliardi

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.

Journal of clinical immunology

Avec: Clémence David , Mihaly Badonyi , Robin Kechiche , Antonella Insalaco , Marco Zecca , Fabrizio De Benedetti , Simona Orcesi , Luisa Chiapparini , Patrizia Comoli , Silvia Federici , Marco Gattorno , Monia Ginevrino , Elisa Giorgio , Valentina Matteo , Patricia Moran-Alvarez , Davide Politano , Giusi Prencipe , Fabio Sirchia , Stefano Volpi , Cécile Masson , Gillian I Rice , Marie-Louise Frémond , Alice Lepelley , Joseph A Marsh , Yanick J Crow

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.

Molecular genetics and metabolism

Avec: Davide Tonduti , Giana Izzo , Stefano D'Arrigo , Daria Riva , Isabella Moroni , Giovanna Zorzi , Vanessa Cavallera , Anna Pichiecchio , Carla Uggetti , Pierangelo Veggiotti , Simona Orcesi , Luisa Chiapparini , Cecilia Parazzini

Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients.

Clinical pharmacology and therapeutics

Avec: Elena Genova , Federica Cavion , Marianna Lucafò , Marco Pelin , Gaetana Lanzi , Stefania Masneri , Rosalba Monica Ferraro , Elisa Maria Fazzi , Simona Orcesi , Giuliana Decorti , Alberto Tommasini , Silvia Giliani , Gabriele Stocco

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to

Frontiers in pediatrics

Avec: Marco Cattalini , Jessica Galli , Fiammetta Zunica , Rosalba Monica Ferraro , Marialuisa Carpanelli , Simona Orcesi , Giovanni Palumbo , Lorenzo Pinelli , Silvia Giliani , Elisa Fazzi , Raffaele Badolato

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Neurology

Avec: Silvia Masnada , Anna Pichiecchio , Manuela Formica , Filippo Arrigoni , Paola Borrelli , Patrizia Accorsi , Paolo Bonanni , Renato Borgatti , Bernardo Dalla Bernardina , Alberto Danieli , Francesca Darra , Nicolas Deconinck , Valentina De Giorgis , Olivier Dulac , Svetlana Gataullina , Lucio Giordano , Renzo Guerrini , Francesca La Briola , Massimo Mastrangelo , Martino Montomoli , Marzia Mortilla , Elisa Osanni , Pasquale Parisi , Emilio Perucca , Lorenzo Pinelli , Romina Romaniello , Mariasavina Severino , Federico Vigevano , Aglaia Vignoli , Nadia Bahi-Buisson , Mara Cavallin , Andrea Accogli , Marie Burgeois , Valeria Capra , Virgine Chaves-Vischer , Luisa Chiapparini , GiovannaStefania Colafati , Stefano D'Arrigo , Isabelle Desguerre , Martine Doco-Fenzy , Giuseppe d'Orsi , Nino Epitashvili , Elisa Fazzi , Alessandro Ferretti , Elena Fiorini , Melanie Fradin , Carlo Fusco , Tiziana Granata , Katrine Marie Johannesen , Sebastien Lebon , Philippe Loget , Rikke Steensjerre Moller , Domenico Montanaro , Simona Orcesi , Chloe Quelin , Erika Rebessi , Antonino Romeo , Roberta Solazzi , Carlotta Spagnoli , Christian Uebler , Federico Zara , Alexis Arzimanoglou , Pierangelo Veggiotti , Auteur inconnu

The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.

Seizure

Avec: Valentina De Giorgis , Costanza Varesio , Maurizio Viri , Lucio Giordano , Roberta La Piana , Davide Tonduti , Federico Roncarolo , Silvia Masnada , Anna Pichiecchio , Pierangelo Veggiotti , Elisa Fazzi , Simona Orcesi , Auteur inconnu

Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period.

Scientific reports

Avec: Stefania Longo , Camilla Caporali , Camilla Pisoni , Alessandro Borghesi , Gianfranco Perotti , Giovanna Tritto , Ivana Olivieri , Roberta La Piana , Davide Tonduti , Alice Decio , Giada Ariaudo , Silvia Spairani , Cecilia Naboni , Barbara Gardella , Arsenio Spinillo , Federica Manzoni , Carmine Tinelli , Mauro Stronati , Simona Orcesi

How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?

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

Avec: Davide Tonduti , Anna Pichiecchio , Carla Uggetti , Stefania Maria Bova , Simona Orcesi , Cecilia Parazzini , Luisa Chiapparini

Neurodevelopmental outcome of Italian preterm ELBW infants: an eleven years single center cohort.

Italian journal of pediatrics

Avec: Camilla Caporali , Stefania Longo , Giovanna Tritto , Gianfranco Perotti , Camilla Pisoni , Cecilia Naboni , Barbara Gardella , Arsenio Spinillo , Federica Manzoni , Stefano Ghirardello , Renato Borgatti , Simona Orcesi , Auteur inconnu

What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature.

Frontiers in endocrinology

Avec: Barbara Gardella , Mattia Dominoni , Annachiara Licia Scatigno , Stefania Cesari , Giacomo Fiandrino , Simona Orcesi , Arsenio Spinillo

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

European journal of medical genetics

Avec: Chryssoula Tzialla , Alessia Arossa , Savina Mannarino , Simona Orcesi , Pierangelo Veggiotti , Giacomo Fiandrino , Orsetta Zuffardi , Edoardo Errichiello

Development of a neurologic severity scale for Aicardi Goutières Syndrome.

Molecular genetics and metabolism

Avec: Laura A Adang , Francesco Gavazzi , Abbas F Jawad , Stacy V Cusack , Kimberly Kopin , Kyle Peer , Constance Besnier , Micaela De Simone , Valentina De Giorgis , Simona Orcesi , Elisa Fazzi , Jessica Galli , Justine Shults , Adeline Vanderver

Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders.

BMC anesthesiology

Avec: Silvia Mongodi , Gaia Ottonello , Raffaelealdo Viggiano , Paola Borrelli , Simona Orcesi , Anna Pichiecchio , Umberto Balottin , Francesco Mojoli , Giorgio Antonio Iotti

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Stem cell research

Avec: Rosalba Monica Ferraro , Gaetana Lanzi , Stefania Masneri , Chiara Barisani , Giovanna Piovani , Giulia Savio , Marco Cattalini , Jessica Galli , Cristina Cereda , Marco Muzi-Falconi , Simona Orcesi , Elisa Fazzi , Silvia Giliani

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Italian journal of pediatrics

Avec: Giada Moresco , Jole Costanza , Carlo Santaniello , Ornella Rondinone , Federico Grilli , Elisabetta Prada , Simona Orcesi , Ilaria Coro , Anna Pichiecchio , Paola Marchisio , Monica Miozzo , Laura Fontana , Donatella Milani

Journal of medical genetics

Avec: Simone Gana , Antonella Casella , Sara Cociglio , Elena Tartara , Elisa Rognone , Elisa Giorgio , Anna Pichiecchio , Simona Orcesi , Enza Maria Valente

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.

Annals of the rheumatic diseases

Avec: Kader Cetin Gedik , Lovro Lamot , Micol Romano , Erkan Demirkaya , David Piskin , Sofia Torreggiani , Laura A Adang , Thais Armangue , Kathe Barchus , Devon R Cordova , Yanick J Crow , Russell C Dale , Karen L Durrant , Despina Eleftheriou , Elisa M Fazzi , Marco Gattorno , Francesco Gavazzi , Eric P Hanson , Min Ae Lee-Kirsch , Gina A Montealegre Sanchez , Bénédicte Neven , Simona Orcesi , Seza Ozen , M Cecilia Poli , Elliot Schumacher , Davide Tonduti , Katsiaryna Uss , Daniel Aletaha , Brian M Feldman , Adeline Vanderver , Paul A Brogan , Raphaela Goldbach-Mansky

Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated in

International journal of molecular sciences

Avec: Francesca Dragoni , Jessica Garau , Daisy Sproviero , Simona Orcesi , Costanza Varesio , Silvia De Siervi , Stella Gagliardi , Cristina Cereda , Orietta Pansarasa

Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.

Clinical case reports

Avec: Jessica Galli , Marco Cattalini , Erika Loi , Rosalba Monica Ferraro , Silvia Giliani , Simona Orcesi , Lorenzo Pinelli , Raffaele Badolato , Elisa Fazzi

Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection.

Journal of pineal research

Avec: Francesca Garofoli , Valentina Franco , Salvatore Aversa , Micol Angelini , Raffaella F Cabini , Sara Cociglio , Stefania Longo , Michela Palmisani , Camilla Pisoni , Francesco M Risso , Stefano Ghirardello , Simona Orcesi , Auteur inconnu

Masked or not, I smile to you: Exploring full-term and preterm infants' social smiles to adults wearing a protective facemask.

Infant behavior & development

Avec: Elena Pezzotti , Livio Provenzi , Cecilia Naboni , Elena Capelli , Stefano Ghirardello , Renato Borgatti , Simona Orcesi

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Neurology

Avec: Francesco Gavazzi , Ylenia Vaia , Sarah Woidill , Brielle Formanowski , Isabella Peixoto de Barcelos , Anjana Sevagamoorthy , Nicholson B Modesti , Lauren Charlton , Stacy V Cusack , Ariel Vincent , Russell D'Aiello , Abbas Jawad , Jessica Galli , Costanza Varesio , Elisa Fazzi , Simona Orcesi , Allan M Glanzman , Scott Lorch , Sara B DeMauro , Danielle Guez-Barber , Amy T Waldman , Adeline Vanderver , Laura A Adang

"Sink or swim": mothers' experiences of extremely preterm infants after 15 years from birth.

Early human development

Avec: Camilla Pisoni , Serena Grumi , Maria Letizia Minniti , Linda Gasparini , Annalisa Saracino , Cecilia Naboni , Stefano Ghirardello , Renato Borgatti , Simona Orcesi

Early parenting intervention promotes 24-month psychomotor development in preterm children.

Acta paediatrica (Oslo, Norway : 1992)

Avec: Camilla Pisoni , Livio Provenzi , Michela Moncecchi , Camilla Caporali , Cecilia Naboni , Mauro Stronati , Rosario Montirosso , Renato Borgatti , Simona Orcesi

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

Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants.

Pediatric neurology

Avec: Arsenio Spinillo , Mattia Dominoni , Camilla Caporali , Ivana Olivieri , Roberta La Piana , Stefania Longo , Stefania Cesari , Giacomo Fiandrino , Simona Orcesi , Barbara Gardella

Ruxolitinib in Aicardi-Goutières syndrome.

Metabolic brain disease

Avec: Eleonora Mura , Silvia Masnada , Clara Antonello , Cecilia Parazzini , Giana Izzo , Jessica Garau , Daisy Sproviero , Cristina Cereda , Simona Orcesi , Pierangelo Veggiotti , Gianvincenzo Zuccotti , Dario Dilillo , Francesca Penagini , Davide Tonduti

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

Pediatric neurology

Avec: Cara Piccoli , Nowa Bronner , Francesco Gavazzi , Holly Dubbs , Micaela De Simone , Valentina De Giorgis , Simona Orcesi , Elisa Fazzi , Jessica Galli , Silvia Masnada , Davide Tonduti , Costanza Varesio , Adeline Vanderver , Arastoo Vossough , Laura Adang

Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial.

Trials

Avec: Francesca Garofoli , Stefania Longo , Camilla Pisoni , Patrizia Accorsi , Micol Angelini , Salvatore Aversa , Camilla Caporali , Sara Cociglio , Annalisa De Silvestri , Elisa Fazzi , Vittoria Rizzo , Chryssoula Tzialla , Marco Zecca , Simona Orcesi

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

The Journal of clinical endocrinology and metabolism

Avec: Félixe Pelletier , Stefanie Perrier , Ferdy K Cayami , Amytice Mirchi , Stephan Saikali , Luan T Tran , Nicole Ulrick , Kether Guerrero , Emmanouil Rampakakis , Rosalina M L van Spaendonk , Sakkubai Naidu , Daniela Pohl , William T Gibson , Michelle Demos , Cyril Goizet , Ingrid Tejera-Martin , Ana Potic , Brent L Fogel , Bernard Brais , Michel Sylvain , Guillaume Sébire , Charles Marques Lourenço , Joshua L Bonkowsky , Coriene Catsman-Berrevoets , Pedro S Pinto , Sandya Tirupathi , Petter Strømme , Ton de Grauw , Dorota Gieruszczak-Bialek , Ingeborg Krägeloh-Mann , Hanna Mierzewska , Heike Philippi , Julia Rankin , Tahir Atik , Brenda Banwell , William S Benko , Astrid Blaschek , Annette Bley , Eugen Boltshauser , Drago Bratkovic , Klara Brozova , Icíar Cimas , Christopher Clough , Bernard Corenblum , Argirios Dinopoulos , Gail Dolan , Flavio Faletra , Raymond Fernandez , Janice Fletcher , Maria Eugenia Garcia Garcia , Paolo Gasparini , Janina Gburek-Augustat , Dolores Gonzalez Moron , Aline Hamati , Inga Harting , Christoph Hertzberg , Alan Hill , Grace M Hobson , A Micheil Innes , Marcelo Kauffman , Susan M Kirwin , Gerhard Kluger , Petra Kolditz , Urania Kotzaeridou , Roberta La Piana , Eriskay Liston , William McClintock , Meriel McEntagart , Fiona McKenzie , Serge Melançon , Anjum Misbahuddin , Mohnish Suri , Fernando I Monton , Sebastien Moutton , Raymond P J Murphy , Miriam Nickel , Hüseyin Onay , Simona Orcesi , Ferda Özkınay , Steffi Patzer , Helio Pedro , Sandra Pekic , Mercedes Pineda Marfa , Amy Pizzino , Barbara Plecko , Bwee Tien Poll-The , Vera Popovic , Dietz Rating , Marie-France Rioux , Norberto Rodriguez Espinosa , Anne Ronan , John R Ostergaard , Elsa Rossignol , Rocio Sanchez-Carpintero , Anna Schossig , Nesrin Senbil , Laura K Sønderberg Roos , Cathy A Stevens , Matthis Synofzik , László Sztriha , Daniel Tibussek , Dagmar Timmann , Davide Tonduti , Bart P van de Warrenburg , Maria Vázquez-López , Sunita Venkateswaran , Pontus Wasling , Evangeline Wassmer , Richard I Webster , Gert Wiegand , Grace Yoon , Joost Rotteveel , Raphael Schiffmann , Marjo S van der Knaap , Adeline Vanderver , Gabriel Á Martos-Moreno , Constantin Polychronakos , Nicole I Wolf , Geneviève Bernard

Prenatal maternal stress during the COVID-19 pandemic and infant regulatory capacity at 3 months: A longitudinal study.

Development and psychopathology

Avec: Livio Provenzi , Serena Grumi , Lilia Altieri , Giulia Bensi , Emanuela Bertazzoli , Giacomo Biasucci , Anna Cavallini , Lidia Decembrino , Rossana Falcone , Anna Freddi , Barbara Gardella , Roberta Giacchero , Roberto Giorda , Elena Grossi , Paola Guerini , Maria Luisa Magnani , Paola Martelli , Mario Motta , Renata Nacinovich , Dario Pantaleo , Camilla Pisoni , Federico Prefumo , Laura Riva , Barbara Scelsa , Maria V Spartà , Arsenio Spinillo , Patrizia Vergani , Simona Orcesi , Renato Borgatti , Auteur inconnu

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes.

The Journal of experimental medicine

Avec: Anna Maria Sole Giordano , Marco Luciani , Francesca Gatto , Monah Abou Alezz , Chiara Beghè , Lucrezia Della Volpe , Alessandro Migliara , Sara Valsoni , Marco Genua , Monika Dzieciatkowska , Giacomo Frati , Julie Tahraoui-Bories , Silvia Clara Giliani , Simona Orcesi , Elisa Fazzi , Renato Ostuni , Angelo D'Alessandro , Raffaella Di Micco , Ivan Merelli , Angelo Lombardo , Martin A M Reijns , Natalia Gromak , Angela Gritti , Anna Kajaste-Rudnitski

Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome.

Clinical immunology (Orlando, Fla.)

Avec: Jessica Garau , Amandine Charras , Costanza Varesio , Simona Orcesi , Francesca Dragoni , Jessica Galli , Elisa Fazzi , Stella Gagliardi , Orietta Pansarasa , Cristina Cereda , Christian M Hedrich

Congenital Cytomegalovirus Infection With Isolated "Minor" Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome.

Pediatric neurology

Avec: Chiara Doneda , Barbara Scelsa , Paola Introvini , Maurizio Zavattoni , Simona Orcesi , Giuseppina Lombardi , Lorenza Pugni , Monica Fumagalli , Mariangela Rustico , Elena Vola , Filippo Arrigoni , Elisa Fabbri , Mario Tortora , Giana Izzo , Maurilio Genovese , Cecilia Parazzini , Beatrice Tassis , Andrea Ronchi , Carlo Pietrasanta , Fabio Triulzi , Andrea Righini

Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.

Frontiers in neurology

Avec: Viola Oldrati , Verusca Gasparroni , Arianna Michelutti , Andrea Ciricugno , Renato Borgatti , Simona Orcesi , Elisa Fazzi , Alessandra Morandi , Jessica Galli , Luigi Piccinini , Cristina Maghini , Maria Arioli , Zaira Cattaneo , Cosimo Urgesi , Alessandra Finisguerra

Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal project.

BMJ open

Avec: Livio Provenzi , Serena Grumi , Roberto Giorda , Giacomo Biasucci , Renza Bonini , Anna Cavallini , Lidia Decembrino , Bruno Drera , Rossana Falcone , Elisa Fazzi , Barbara Gardella , Roberta Giacchero , Renata Nacinovich , Camilla Pisoni , Federico Prefumo , Barbara Scelsa , Maria Valentina Spartà , Pierangelo Veggiotti , Simona Orcesi , Renato Borgatti , Auteur inconnu

The Experience of Child Neuropsychiatry Residents who Volunteered in Italian COVID-19-Designated Hospitals.

Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry

Avec: Stefano Parravicini , Livio Provenzi , Serena Barello , Tiziana Nania , Serena Grumi , Elisa Rinaldi , Simona Orcesi , Renato Borgatti

Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction.

American journal of obstetrics and gynecology

Avec: Barbara Gardella , Mattia Dominoni , Camilla Caporali , Stefania Cesari , Giacomo Fiandrino , Stefania Longo , Giovanni Battista De Vito , Cecilia Naboni , Davide Tonduti , Gianfranco Perotti , Simona Orcesi , Arsenio Spinillo

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

Journal of clinical immunology

Avec: Lorenzo Lodi , Isabelle Melki , Vincent Bondet , Luis Seabra , Gillian I Rice , Edwin Carter , Alice Lepelley , Maria José Martin-Niclós , Buthaina Al Adba , Brigitte Bader-Meunier , Magalie Barth , Thomas Blauwblomme , Christine Bodemer , Odile Boespflug-Tanguy , Russel C Dale , Isabelle Desguerre , Camille Ducrocq , Fabienne Dulieu , Cécile Dumaine , Pierre Ellul , Alice Hadchouel , Véronique Hentgen , Miguel Hié , Marie Hully , Eric Jeziorski , Romain Lévy , Fanny Mochel , Simona Orcesi , Sandrine Passemard , Marie Pouletty , Pierre Quartier , Florence Renaldo , Rainer Seidl , Jay Shetty , Bénédicte Neven , Stéphane Blanche , Darragh Duffy , Yanick J Crow , Marie-Louise Frémond

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Nature genetics

Avec: Carolina Uggenti , Alice Lepelley , Marine Depp , Andrew P Badrock , Mathieu P Rodero , Marie-Thérèse El-Daher , Gillian I Rice , Somdutta Dhir , Ann P Wheeler , Ashish Dhir , Waad Albawardi , Marie-Louise Frémond , Luis Seabra , Jennifer Doig , Natalie Blair , Maria José Martin-Niclos , Erika Della Mina , Alejandro Rubio-Roldán , Jose L García-Pérez , Duncan Sproul , Jan Rehwinkel , Jonny Hertzog , Anne Boland-Auge , Robert Olaso , Jean-François Deleuze , Julien Baruteau , Karine Brochard , Jonathan Buckley , Vanessa Cavallera , Cristina Cereda , Liesbeth M H De Waele , Angus Dobbie , Diane Doummar , Frances Elmslie , Margarete Koch-Hogrebe , Ram Kumar , Kate Lamb , John H Livingston , Anirban Majumdar , Charles Marques Lorenço , Simona Orcesi , Sylviane Peudenier , Kevin Rostasy , Caroline A Salmon , Christiaan Scott , Davide Tonduti , Guy Touati , Marialuisa Valente , Hélio van der Linden , Hilde Van Esch , Marie Vermelle , Kate Webb , Andrew P Jackson , Martin A M Reijns , Nick Gilbert , Yanick J Crow

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Stem cell research

Avec: Rosalba Monica Ferraro , Stefania Masneri , Gaetana Lanzi , Chiara Barisani , Giovanna Piovani , Giulia Savio , Marco Cattalini , Jessica Galli , Cristina Cereda , Marco Muzi-Falconi , Simona Orcesi , Elisa Fazzi , Silvia Giliani

Developmental Outcomes of Aicardi Goutières Syndrome.

Journal of child neurology

Avec: Laura Adang , Francesco Gavazzi , Micaela De Simone , Elisa Fazzi , Jessica Galli , Jamie Koh , Julia Kramer-Golinkoff , Valentina De Giorgis , Simona Orcesi , Kyle Peer , Nicole Ulrick , Sarah Woidill , Justine Shults , Adeline Vanderver

Zika Virus Infection in Pregnancy: Advanced Diagnostic Approaches in Dengue-Naive and Dengue-Experienced Pregnant Women and Possible Implication for Cross-Reactivity and Cross-Protection.

Microorganisms

Avec: Maurizio Zavattoni , Francesca Rovida , Elena Percivalle , Irene Cassaniti , Antonella Sarasini , Alessia Arossa , Beatrice Tassis , Lina Bollani , Giuseppina Lombardi , Simona Orcesi , Fausto Baldanti

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A

Avec: Simone Gana , Massimo Plumari , Elena Rossi , Annalisa Saracino , Melanie Iorio , Martina Paola Zanaboni , Simona Orcesi , Enza Maria Valente

A global perspective on parental stress in the neonatal intensive care unit: a meta-analytic study.

Journal of perinatology : official journal of the California Perinatal Association

Avec: Camilla Caporali , Camilla Pisoni , Linda Gasparini , Elena Ballante , Marzo Zecca , Simona Orcesi , Livio Provenzi

Early Parenting Intervention - Biobehavioral Outcomes in infants with Neurodevelopmental Disabilities (EPI-BOND): study protocol for an Italian multicentre randomised controlled trial.

BMJ open

Avec: Rosario Montirosso , Elisa Rosa , Roberto Giorda , Elisa Fazzi , Simona Orcesi , Anna Cavallini , Livio Provenzi , Auteur inconnu

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Diagnostics (Basel, Switzerland)

Avec: Costanza Varesio , Simone Gana , Alessia Asaro , Elena Ballante , Raffaella Fiamma Cabini , Elena Tartara , Michela Bagnaschi , Ludovica Pasca , Marialuisa Valente , Simona Orcesi , Cristina Cereda , Pierangelo Veggiotti , Renato Borgatti , Enza Maria Valente , Valentina De Giorgis

Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 months.

Scientific reports

Avec: Livio Provenzi , Fabiana Mambretti , Marco Villa , Serena Grumi , Andrea Citterio , Emanuela Bertazzoli , Giacomo Biasucci , Lidia Decembrino , Rossana Falcone , Barbara Gardella , Maria Roberta Longo , Renata Nacinovich , Camilla Pisoni , Federico Prefumo , Simona Orcesi , Barbara Scelsa , Roberto Giorda , Renato Borgatti

Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support.

Frontiers in psychiatry

Avec: Serena Grumi , Livio Provenzi , Patrizia Accorsi , Giacomo Biasucci , Anna Cavallini , Lidia Decembrino , Rossana Falcone , Elisa Maria Fazzi , Barbara Gardella , Roberta Giacchero , Paola Guerini , Elena Grossi , Maria Luisa Magnani , Eloisa Maria Mariani , Renata Nacinovich , Dario Pantaleo , Camilla Pisoni , Federico Prefumo , Caterina Sabatini , Barbara Scelsa , Maria Valentina Spartà , Arsenio Spinillo , Roberto Giorda , Simona Orcesi , Renato Borgatti

Emotion recognition and theory of mind weakness at school age in children born preterm.

Minerva pediatrics

Avec: Stefania M Bova , Ivana Olivieri , Arianna Krachmalnicoff , Serena Micheletti , Andrea Rossi , Elisa M Fazzi , Laura Savaré , Simona Orcesi

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS.

Arthritis & rheumatology (Hoboken, N.J.)

Expanding the Natural History of

Genes

Avec: Davide Politano , Guido Catalano , Elena Pezzotti , Costanza Varesio , Fabio Sirchia , Antonella Casella , Elisa Rognone , Anna Pichiecchio , Renato Borgatti , Simona Orcesi

Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.

American journal of medical genetics. Part A

Avec: Maria Letizia Minniti , Silvia Kalantari , Ludovica Pasca , Samantha Bruno , Sebastiano Arceri , Elisa Novello , Elisa Giorgio , Vittoria Rizzo , Renato Borgatti , Enza Maria Valente , Antonio Pisani , Simona Orcesi , Fabio Sirchia

Réseau de co-auteurs

Elisa Fazzi 20 collaborations

Renato Borgatti 16 collaborations

Davide Tonduti 15 collaborations

Jessica Galli 13 collaborations

Camilla Pisoni 12 collaborations

Cristina Cereda 10 collaborations

Anna Pichiecchio 10 collaborations

Costanza Varesio 10 collaborations

Livio Provenzi 10 collaborations

Barbara Gardella 10 collaborations

Valentina De Giorgis 9 collaborations

Pierangelo Veggiotti 9 collaborations

None None 8 collaborations

Silvia Masnada 7 collaborations

Serena Grumi 7 collaborations

Camilla Caporali 7 collaborations

Arsenio Spinillo 7 collaborations

Francesco Gavazzi 7 collaborations

Adeline Vanderver 7 collaborations

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