Elena Freri

Affiliations
  • Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Publications (41)

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

European journal of medical genetics
Avec: Luigi Vetri , Francesco Calì , Mirella Vinci , Carmelo Amato , Michele Roccella , Tiziana Granata , Elena Freri , Roberta Solazzi , Valentino Romano , Maurizio Elia

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Epilepsy research
Avec: Laura Canafoglia , Giuseppina Barbella , Edoardo Ferlazzo , Pasquale Striano , Adriana Magaudda , Giuseppe d'Orsi , Tommaso Martino , Carlo Avolio , Umberto Aguglia , Chiara Sueri , Loretta Giuliano , Vito Sofia , Federica Zibordi , Francesca Ragona , Elena Freri , Cinzia Costa , Elena Nardi Cesarini , Martina Fanella , Davide Rossi Sebastiano , Patrizia Riguzzi , Antonio Gambardella , Carlo Di Bonaventura , Roberto Michelucci , Tiziana Granata , Francesca Bisulli , Laura Licchetta , Paolo Tinuper , Francesca Beccaria , Elisa Visani , Silvana Franceschetti

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.

Neurogenetics
Avec: Berardo Rinaldi , Yu-Han Ge , Elena Freri , Arianna Tucci , Tiziana Granata , Margherita Estienne , Jia-Hui Sun , Bénédicte Gérard , Allan Bayat , Stephanie Efthymiou , Cristina Gervasini , Yun Stone Shi , Henry Houlden , Paola Marchisio , Donatella Milani

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Seizure
Avec: Federico Raviglione , Sofia Douzgou , Marcello Scala , Alessia Mingarelli , Stefano D'Arrigo , Elena Freri , Francesca Darra , Sabrina Giglio , Maria C Bonaglia , Chiara Pantaleoni , Massimo Mastrangelo , Roberta Epifanio , Maurizio Elia , Veronica Saletti , Silvia Morlino , Maria Stella Vari , Paola De Liso , Julija Pavaine , Luigina Spaccini , Elisa Cattaneo , Elena Gardella , Rikke S Møller , Francesca Marchese , Clara Colonna , Claudia Gandioli , Giuseppe Gobbi , Dipak Ram , Orazio Palumbo , Massimo Carella , Michele Germano , Davide Tonduti , Diego De Angelis , Davide Caputo , Patrizia Bergonzini , Francesca Novara , Orsetta Zuffardi , Alberto Verrotti , Alessandro Orsini , Alice Bonuccelli , Maria Carmela De Muto , Marina Trivisano , Federico Vigevano , Tiziana Granata , Bernardo Dalla Bernardina , Antonia Tranchina , Pasquale Striano

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.

Annals of clinical and translational neurology
Avec: Yi-Chen Lai , Eyal Muscal , Elizabeth Wells , Nikita Shukla , Krista Eschbach , Ki Hyeong Lee , Marios Kaliakatsos , Nevedita Desai , Ronny Wickström , Maurizio Viri , Elena Freri , Tiziana Granata , Srishti Nangia , Robertino Dilena , Andreas Brunklaus , Mark S Wainwright , Mark P Gorman , Coral M Stredny , Abdurhman Asiri , Khalid Hundallah , Asif Doja , Eric Payne , Elaine Wirrell , Sookyong Koh , Jessica L Carpenter , James Riviello

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Journal of neurology
Avec: Alessandro Orsini , Daniele Ferrari , Antonella Riva , Andrea Santangelo , Angelo Macrì , Elena Freri , Laura Canafoglia , Alfredo D'Aniello , Giancarlo Di Gennaro , Gabriele Massimetti , Carlo Minetti , Federico Zara , Roberto Michelucci , Anupreet Tumber , Ajoy Vincent , Berge Arakel Minassian , Pasquale Striano

Early Parkinsonism in a Senegalese girl with Lafora disease.

Epileptic disorders : international epilepsy journal with videotape
Avec: Francesca Ragona , Laura Canafoglia , Barbara Castellotti , Roberta Solazzi , Sara Gabbiadini , Elena Freri , Vidmer Scaioli , Jacopo Cosimo DiFrancesco , Cinzia Gellera , Tiziana Granata

Psychiatric autoimmune conditions in children and adolescents: Is catatonia a severity marker?

Progress in neuro-psychopharmacology & biological psychiatry
Avec: Vladimir Ferrafiat , Elise Riquin , Elena Freri , Tiziana Granata , Nardo Nardocci , François Medjkane , Claire Corfiotti , Alessandra Tozzo , Huges Pellerin , Xavier Benarous , Julien Haroche , Zahir Amoura , Philippe Duverger , Renaud Jardri , Priscille Gerardin , David Cohen , Angèle Consoli , Marie Raffin

Treatment with metformin in twelve patients with Lafora disease.

Orphanet journal of rare diseases
Avec: Francesca Bisulli , Lorenzo Muccioli , Giuseppe d'Orsi , Laura Canafoglia , Elena Freri , Laura Licchetta , Barbara Mostacci , Patrizia Riguzzi , Federica Pondrelli , Carlo Avolio , Tommaso Martino , Roberto Michelucci , Paolo Tinuper

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

Epilepsy research
Avec: Jacopo C DiFrancesco , Barbara Castellotti , Raffaella Milanesi , Francesca Ragona , Elena Freri , Laura Canafoglia , Silvana Franceschetti , Carlo Ferrarese , Stefania Magri , Franco Taroni , Cinzia Costa , Angelo Labate , Antonio Gambardella , Roberta Solazzi , Anna Binda , Ilaria Rivolta , Giancarlo Di Gennaro , Sara Casciato , Ludovico D'Incerti , Andrea Barbuti , Dario DiFrancesco , Tiziana Granata , Cinzia Gellera

CDKL5 deficiency disorder in males: Five new variants and review of the literature.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Barbara Siri , Costanza Varesio , Elena Freri , Francesca Darra , Simone Gana , Davide Mei , Francesco Porta , Elena Fontana , Giulia Galati , Roberta Solazzi , Marcello Niceta , Pierangelo Veggiotti , Enrico Alfei

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

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.

Journal of endocrinological investigation
Avec: G I Baroncelli , G Carlucci , E Freri , M R Giuca , V Guarnieri , G Navarra , B Toschi , S Mora

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

Epilepsia
Avec: Sara Matricardi , Paola De Liso , Elena Freri , Paola Costa , Barbara Castellotti , Stefania Magri , Cinzia Gellera , Tiziana Granata , Luciana Musante , Gaetan Lesca , Julie Oertel , Dana Craiu , Trine B Hammer , Rikke S Møller , Nina Barisic , Rami Abou Jamra , Tilman Polster , Federico Vigevano , Carla Marini

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Journal of the neurological sciences
Avec: Antonella Riva , Alessandro Orsini , Marcello Scala , Vittoria Taramasso , Laura Canafoglia , Giuseppe d'Orsi , Maria Teresa Di Claudio , Carlo Avolio , Alfredo D'Aniello , Maurizio Elia , Silvana Franceschetti , Giancarlo Di Gennaro , Francesca Bisulli , Paolo Tinuper , Maria Tappatà , Antonino Romeo , Elena Freri , Carla Marini , Cinzia Costa , Vito Sofia , Edoardo Ferlazzo , Adriana Magaudda , Pierangelo Veggiotti , Elena Gennaro , Angela Pistorio , Carlo Minetti , Amedeo Bianchi , Salvatore Striano , Roberto Michelucci , Federico Zara , Berge Arakel Minassian , Pasquale Striano , Auteur inconnu

Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.

Epilepsy & behavior : E&B
Avec: Laura Canafoglia , Maria Sabina Dettori , Dunja Duran , Francesca Ragona , Elena Freri , Susanna Casellato , Tiziana Granata , Silvana Franceschetti , Ferruccio Panzica

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Movement disorders clinical practice
Avec: Camilla Russo , Anna Ardissone , Elena Freri , Serena Gasperini , Marco Moscatelli , Giovanna Zorzi , Celeste Panteghini , Barbara Castellotti , Barbara Garavaglia , Nardo Nardocci , Luisa Chiapparini

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Pediatric neurology
Avec: Roberta Solazzi , Giuliana Nanni , Silvia Esposito , Margherita Estienne , Elena Freri , Federica Zibordi , Laura Canafoglia , Barbara Castellotti , Tiziana Granata

Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: A multicenter retrospective study.

Epilepsia
Avec: Sara Matricardi , Elisabetta Cesaroni , Paolo Bonanni , Nicoletta Foschi , Alfredo D Aniello , Giancarlo Di Gennaro , Pasquale Striano , Silvia Cappanera , Sabrina Siliquini , Elena Freri , Francesca Ragona , Tiziana Granata , Francesco Deleo , Flavio Villani , Angelo Russo , Tullio Messana , Laura Siri , Irene Bagnasco , Aglaia Vignoli , Francesca Felicia Operto , Alessandro Orsini , Alice Bonuccelli , Amanda Papa , Cinzia Peruzzi , Claudio Liguori , Alberto Verrotti , Francesco Chiarelli , Carla Marini , Simona Lattanzi

A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.

Epilepsia
Avec: Paolo Ambrosino , Francesca Ragona , Ilaria Mosca , Chiara Vannicola , Laura Canafoglia , Roberta Solazzi , Ilaria Rivolta , Elena Freri , Tiziana Granata , Giuliana Messina , Barbara Castellotti , Cinzia Gellera , Maria Virginia Soldovieri , Jacopo Cosimo DiFrancesco , Maurizio Taglialatela

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Epilepsia open
Avec: Barbara Castellotti , Francesca Ragona , Elena Freri , Giuliana Messina , Stefania Magri , Roberto Previtali , Roberta Solazzi , Silvana Franceschetti , Franco Taroni , Laura Canafoglia , Cinzia Gellera , Tiziana Granata , Jacopo C DiFrancesco

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.

Journal of neurology
Avec: Barbara Castellotti , Francesca Ragona , Elena Freri , Roberta Solazzi , Stefano Ciardullo , Giovanni Tricomi , Anna Venerando , Barbara Salis , Laura Canafoglia , Flavio Villani , Silvana Franceschetti , Nardo Nardocci , Cinzia Gellera , Jacopo C DiFrancesco , Tiziana Granata

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.

Epilepsia
Avec: Carmen Barba , Judith Helen Cross , Kees Braun , Massimo Cossu , Kerstin Alexandra Klotz , Salvatore De Masi , Maria Angeles Perez Jiménez , Eija Gaily , Nicola Specchio , Pedro Cabral , Joseph Toulouse , Petia Dimova , Domenica Battaglia , Elena Freri , Alessandro Consales , Elisabetta Cesaroni , Oana Tarta-Arsene , Antonio Gil-Nagel , Ioana Mindruta , Giancarlo Di Gennaro , Marco Giulioni , Martin M Tisdall , Christin Eltze , Muhammad Zubair Tahir , Floor Jansen , Peter van Rijen , Maurits Sanders , Laura Tassi , Stefano Francione , Giorgio Lo Russo , Julia Jacobs , Thomas Bast , Giulia Matta , Marcelo Budke , Concepción Fournier Del Castillo , Eeva-Liisa Metsahonkala , Atte Karppinen , José Carlos Ferreira , Krasimir Minkin , Carlo Efisio Marras , Auteur inconnu , Alexis Arzimanoglou , Renzo Guerrini

FDG-PET assessment and metabolic patterns in Lafora disease.

European journal of nuclear medicine and molecular imaging
Avec: Lorenzo Muccioli , Andrea Farolfi , Federica Pondrelli , Giuseppe d'Orsi , Roberto Michelucci , Elena Freri , Laura Canafoglia , Laura Licchetta , Francesco Toni , Rachele Bonfiglioli , Simona Civollani , Cinzia Pettinato , Elisa Maietti , Giorgio Marotta , Stefano Fanti , Paolo Tinuper , Francesca Bisulli

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Avec: Davide Pareyson , Chiara Pantaleoni , Roberto Eleopra , Giuseppe De Filippis , Isabella Moroni , Elena Freri , Federica Zibordi , Sara Bulgheroni , Emanuela Pagliano , Daniela Sarti , Antonio Silvani , Licia Grazzi , Pietro Tiraboschi , Giuseppe Didato , Elena Anghileri , Anna Bersano , Laura Valentini , Sylvie Piacentini , Cristina Muscio , Matilde Leonardi , Caterina Mariotti , Marica Eoli , Sara Nuzzo , Fabrizio Tagliavini , Paolo Confalonieri , Francesca De Giorgi , Auteur inconnu

Genotype-phenotype correlations in patients with de novo

Neurology. Genetics
Avec: Federica Malerba , Giulio Alberini , Ganna Balagura , Francesca Marchese , Elisabetta Amadori , Antonella Riva , Maria Stella Vari , Elena Gennaro , Francesca Madia , Vincenzo Salpietro , Marco Angriman , Lucio Giordano , Patrizia Accorsi , Marina Trivisano , Nicola Specchio , Angelo Russo , Giuseppe Gobbi , Federico Raviglione , Tiziana Pisano , Carla Marini , Maria M Mancardi , Lino Nobili , Elena Freri , Barbara Castellotti , Giuseppe Capovilla , Antonietta Coppola , Alberto Verrotti , Paola Martelli , Francesco Miceli , Luca Maragliano , Fabio Benfenati , Maria R Cilio , Kathrine M Johannesen , Rikke S Møller , Berten Ceulemans , Carlo Minetti , Sarah Weckhuysen , Federico Zara , Maurizio Taglialatela , Pasquale Striano

The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes.

Epilepsy & behavior : E&B
Avec: Martina Paola Zanaboni , Ludovica Pasca , Stefania Bergamoni , Stefania Maria Bova , Massimiliano Celario , Elena Freri , Serena Grumi , Melissa Filippini , Valeria Leonardi , Serena Micheletti , Francesca Felicita Operto , Amanda Papa , Grazia Maria Giovanna Pastorino , Cinzia Peruzzi , Dario Pruna , Francesca Ragona , Federico Raviglione , Martina Totaro , Costanza Varesio , Valentina De Giorgis , Auteur inconnu

Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.

Journal of neurology, neurosurgery, and psychiatry
Avec: Sara Matricardi , Sara Casciato , Silvia Bozzetti , Sara Mariotto , Andrea Stabile , Elena Freri , Francesco Deleo , Stefano Sartori , Margherita Nosadini , Irene Pappalardo , Stefano Meletti , Giada Giovannini , Elisabetta Zucchi , Carlo Di Bonaventura , Giancarlo Di Gennaro , Sergio Ferrari , Luigi Zuliani , Marco Zoccarato , Alberto Vogrig , Simona Lattanzi , Roberto Michelucci , Antonio Gambardella , Edoardo Ferlazzo , Lucia Fusco , Tiziana Granata , Flavio Villani , Auteur inconnu

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Epilepsia open
Avec: Barbara Castellotti , Laura Canafoglia , Elena Freri , Maria Tappatà , Giuliana Messina , Stefania Magri , Jacopo C DiFrancesco , Martina Fanella , Carlo Di Bonaventura , Alessandra Morano , Tiziana Granata , Cinzia Gellera , Silvana Franceschetti , Roberto Michelucci

Case report:

Frontiers in neuroscience
Avec: Davide Caputo , Silvana Franceschetti , Barbara Castellotti , Elena Freri , G Zorzi , Veronica Saletti , Laura Canafoglia , Tiziana Granata

A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.

Epilepsia
Avec: Jacopo C DiFrancesco , Francesca Ragona , Carmen Murano , Anthony Frosio , Dario Melgari , Anna Binda , Serena Calamaio , Rachele Prevostini , Mario Mauri , Laura Canafoglia , Barbara Castellotti , Giuliana Messina , Cinzia Gellera , Roberto Previtali , Pierangelo Veggiotti , Raffaella Milanesi , Andrea Barbuti , Roberta Solazzi , Elena Freri , Tiziana Granata , Ilaria Rivolta

Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.

Developmental medicine and child neurology
Avec: Margherita Nosadini , Tiziana Granata , Sara Matricardi , Elena Freri , Francesca Ragona , Laura Papetti , Agnese Suppiej , Massimiliano Valeriani , Stefano Sartori , Auteur inconnu

International Consensus Based Review and Recommendations for Minimum Reporting Standards in Research on Transcutaneous Vagus Nerve Stimulation (Version 2020).

Frontiers in human neuroscience
Avec: Adam D Farmer , Adam Strzelczyk , Alessandra Finisguerra , Alexander V Gourine , Alireza Gharabaghi , Alkomiet Hasan , Andreas M Burger , Andrés M Jaramillo , Ann Mertens , Arshad Majid , Bart Verkuil , Bashar W Badran , Carlos Ventura-Bort , Charly Gaul , Christian Beste , Christopher M Warren , Daniel S Quintana , Dorothea Hämmerer , Elena Freri , Eleni Frangos , Eleonora Tobaldini , Eugenijus Kaniusas , Felix Rosenow , Fioravante Capone , Fivos Panetsos , Gareth L Ackland , Gaurav Kaithwas , Georgia H O'Leary , Hannah Genheimer , Heidi I L Jacobs , Ilse Van Diest , Jean Schoenen , Jessica Redgrave , Jiliang Fang , Jim Deuchars , Jozsef C Széles , Julian F Thayer , Kaushik More , Kristl Vonck , Laura Steenbergen , Lauro C Vianna , Lisa M McTeague , Mareike Ludwig , Maria G Veldhuizen , Marijke De Couck , Marina Casazza , Marius Keute , Marom Bikson , Marta Andreatta , Martina D'Agostini , Mathias Weymar , Matthew Betts , Matthias Prigge , Michael Kaess , Michael Roden , Michelle Thai , Nathaniel M Schuster , Nicola Montano , Niels Hansen , Nils B Kroemer , Peijing Rong , Rico Fischer , Robert H Howland , Roberta Sclocco , Roberta Sellaro , Ronald G Garcia , Sebastian Bauer , Sofiya Gancheva , Stavros Stavrakis , Stefan Kampusch , Susan A Deuchars , Sven Wehner , Sylvain Laborde , Taras Usichenko , Thomas Polak , Tino Zaehle , Uirassu Borges , Vanessa Teckentrup , Vera K Jandackova , Vitaly Napadow , Julian Koenig

Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.

Pharmacological research
Avec: Maria Virginia Soldovieri , Elena Freri , Paolo Ambrosino , Ilaria Rivolta , Ilaria Mosca , Anna Binda , Carmen Murano , Francesca Ragona , Laura Canafoglia , Chiara Vannicola , Roberta Solazzi , Tiziana Granata , Barbara Castellotti , Giuliana Messina , Cinzia Gellera , Audrey Labalme , Gaetan Lesca , Jacopo C DiFrancesco , Maurizio Taglialatela

Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.

Epileptic disorders : international epilepsy journal with videotape
Avec: Roberta Solazzi , Barbara Castellotti , Laura Canafoglia , Giuliana Messina , Stefania Magri , Elena Freri , Francesca Ragona , Silvana Franceschetti , Jacopo C Di Francesco , Cinzia Gellera , Tiziana Granata

Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.

Frontiers in pharmacology
Avec: Ilaria Mosca , Ilaria Rivolta , Audrey Labalme , Paolo Ambrosino , Barbara Castellotti , Cinzia Gellera , Tiziana Granata , Elena Freri , Anna Binda , Gaetan Lesca , Jacopo C DiFrancesco , Maria Virginia Soldovieri , Maurizio Taglialatela

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Brain : a journal of neurology
Avec: Nataliya Di Donato , Renzo Guerrini , Charles J Billington , A James Barkovich , Philine Dinkel , Elena Freri , Michael Heide , Elliot S Gershon , Tracy S Gertler , Robert J Hopkin , Suma Jacob , Sarah K Keedy , Daniz Kooshavar , Paul J Lockhart , Dietmar R Lohmann , Iman G Mahmoud , Elena Parrini , Evelin Schrock , Giulia Severi , Andrew E Timms , Richard I Webster , Mary J H Willis , Maha S Zaki , Joseph G Gleeson , Richard J Leventer , William B Dobyns

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD.

Neurology(R) neuroimmunology & neuroinflammation
Avec: Margherita Nosadini , Michael Eyre , Thea Giacomini , Massimiliano Valeriani , Marida Della Corte , Andrea D Praticò , Pietro Annovazzi , Ramona Cordani , Duccio Maria Cordelli , Giovanni Crichiutti , Gabriella Di Rosa , Valentina Dolcemascolo , Anna Fetta , Elena Freri , Paolo Gallo , Matteo Gastaldi , Tiziana Granata , Luisa Grazian , Raffaele Iorio , Martina Lombardini , Monica Margoni , Sara Mariotto , Sara Matricardi , Federico Melani , Nardo Nardocci , Laura Papetti , Alice Passarini , Francesco Pisani , Chiara Po' , Marco Puthenparampil , Francesca Ragona , Salvatore Savasta , Sabrina Siliquini , Irene Toldo , Alessandra Tozzo , Emanuela Claudia Turco , Antonio Varone , Alberto Vogrig , Luigi Zuliani , Samuela Bugin , Sara Rossato , Alessandro Orsini , Gaetano Cantalupo , Maria Margherita Mancardi , Michela Ada Noris Ferilli , Thomas Foiadelli , Stefano Sartori

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.

Cerebral cortex (New York, N.Y. : 1991)
Avec: Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini

Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with

Frontiers in cellular neuroscience
Avec: Ilaria Mosca , Elena Freri , Paolo Ambrosino , Giorgio Belperio , Tiziana Granata , Laura Canafoglia , Francesca Ragona , Roberta Solazzi , Ilaria Filareto , Barbara Castellotti , Giuliana Messina , Cinzia Gellera , Jacopo C DiFrancesco , Maria Virginia Soldovieri , Maurizio Taglialatela

De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

The Journal of clinical investigation
Avec: Martina Riva , Sofia Ferreira , Kotaro Hayashi , Yoann Saillour , Vera P Medvedeva , Takao Honda , Kanehiro Hayashi , Claire Altersitz , Shahad Albadri , Marion Rosello , Julie Dang , Malo Serafini , Frédéric Causeret , Olivia J Henry , Charles-Joris Roux , Céline Bellesme , Elena Freri , Dragana Josifova , Elena Parrini , Renzo Guerrini , Filippo Del Bene , Kazunori Nakajima , Nadia Bahi-Buisson , Alessandra Pierani

Réseau de co-auteurs

Tiziana Granata 26 collaborations
Laura Canafoglia 18 collaborations
Francesca Ragona 16 collaborations
Barbara Castellotti 16 collaborations
Roberta Solazzi 13 collaborations
Cinzia Gellera 12 collaborations
Silvana Franceschetti 9 collaborations
Jacopo C DiFrancesco 8 collaborations
Roberto Michelucci 7 collaborations
Giuliana Messina 7 collaborations
Pasquale Striano 6 collaborations
Giancarlo Di Gennaro 6 collaborations
None None 6 collaborations
Alessandro Orsini 5 collaborations
Nardo Nardocci 5 collaborations
Stefania Magri 5 collaborations
Ilaria Rivolta 5 collaborations
Sara Matricardi 5 collaborations
Maurizio Taglialatela 5 collaborations
Giuseppe d'Orsi 4 collaborations
Francesca Bisulli 4 collaborations
Paolo Tinuper 4 collaborations
Anna Binda 4 collaborations
Stefano Sartori 4 collaborations
Carla Marini 4 collaborations
Paolo Ambrosino 4 collaborations
Ilaria Mosca 4 collaborations
Maria Virginia Soldovieri 4 collaborations
Renzo Guerrini 4 collaborations
Maurizio Elia 3 collaborations
Edoardo Ferlazzo 3 collaborations
Carlo Avolio 3 collaborations
Federica Zibordi 3 collaborations
Cinzia Costa 3 collaborations
Antonio Gambardella 3 collaborations
Carlo Di Bonaventura 3 collaborations
Laura Licchetta 3 collaborations
Federico Raviglione 3 collaborations
Francesca Darra 3 collaborations
Rikke S Møller 3 collaborations
Alberto Verrotti 3 collaborations
Marina Trivisano 3 collaborations
Federico Vigevano 3 collaborations
Antonella Riva 3 collaborations
Carlo Minetti 3 collaborations
Federico Zara 3 collaborations
Pierangelo Veggiotti 3 collaborations
Gaetan Lesca 3 collaborations
Flavio Villani 3 collaborations
Nicola Specchio 3 collaborations
Margherita Nosadini 3 collaborations
Elena Parrini 3 collaborations
Adriana Magaudda 2 collaborations
Tommaso Martino 2 collaborations
Vito Sofia 2 collaborations
Martina Fanella 2 collaborations
Patrizia Riguzzi 2 collaborations
Margherita Estienne 2 collaborations
Marcello Scala 2 collaborations
Stefano D'Arrigo 2 collaborations
Chiara Pantaleoni 2 collaborations
Veronica Saletti 2 collaborations
Maria Stella Vari 2 collaborations
Paola De Liso 2 collaborations
Francesca Marchese 2 collaborations
Giuseppe Gobbi 2 collaborations
Davide Caputo 2 collaborations
Alice Bonuccelli 2 collaborations
Bernardo Dalla Bernardina 2 collaborations
Alfredo D'Aniello 2 collaborations
Berge Arakel Minassian 2 collaborations
Jacopo Cosimo DiFrancesco 2 collaborations
Alessandra Tozzo 2 collaborations
Lorenzo Muccioli 2 collaborations
Federica Pondrelli 2 collaborations
Raffaella Milanesi 2 collaborations
Franco Taroni 2 collaborations
Sara Casciato 2 collaborations
Andrea Barbuti 2 collaborations
Costanza Varesio 2 collaborations
Davide Mei 2 collaborations
Sara Rossato 2 collaborations
Maria Tappatà 2 collaborations
Elena Gennaro 2 collaborations
Elisabetta Cesaroni 2 collaborations
Sabrina Siliquini 2 collaborations
Francesco Deleo 2 collaborations
Angelo Russo 2 collaborations
Amanda Papa 2 collaborations
Cinzia Peruzzi 2 collaborations
Simona Lattanzi 2 collaborations
Chiara Vannicola 2 collaborations
Roberto Previtali 2 collaborations
Sara Mariotto 2 collaborations
Luigi Zuliani 2 collaborations
Alberto Vogrig 2 collaborations
Carmen Murano 2 collaborations
Laura Papetti 2 collaborations
Massimiliano Valeriani 2 collaborations
Audrey Labalme 2 collaborations
Luigi Vetri 1 collaboration
Francesco Calì 1 collaboration
Mirella Vinci 1 collaboration
Carmelo Amato 1 collaboration
Michele Roccella 1 collaboration
Valentino Romano 1 collaboration
Giuseppina Barbella 1 collaboration
Umberto Aguglia 1 collaboration
Chiara Sueri 1 collaboration
Loretta Giuliano 1 collaboration
Elena Nardi Cesarini 1 collaboration
Davide Rossi Sebastiano 1 collaboration
Francesca Beccaria 1 collaboration
Elisa Visani 1 collaboration
Berardo Rinaldi 1 collaboration
Yu-Han Ge 1 collaboration
Arianna Tucci 1 collaboration
Jia-Hui Sun 1 collaboration
Bénédicte Gérard 1 collaboration
Allan Bayat 1 collaboration
Stephanie Efthymiou 1 collaboration
Cristina Gervasini 1 collaboration
Yun Stone Shi 1 collaboration
Henry Houlden 1 collaboration
Paola Marchisio 1 collaboration
Donatella Milani 1 collaboration
Sofia Douzgou 1 collaboration
Alessia Mingarelli 1 collaboration
Sabrina Giglio 1 collaboration
Maria C Bonaglia 1 collaboration
Massimo Mastrangelo 1 collaboration
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