M Scala

Publications (13)

Premature Infants Conceived with Assisted Reproductive Technology: An Analysis of Infant Morbidity, Compared with Infants Conceived Naturally.

American journal of perinatology

Avec: Melissa Scala , Jennifer Berg , Martin Keszler , Kabir Abubakar

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.

Journal of pediatric endocrinology & metabolism : JPEM

Avec: Marcello Scala , Andrea Accogli , Anna Maria Elsa Allegri , Elisa Tassano , Mariasavina Severino , Giovanni Morana , Mohamad Maghnie , Valeria Capra

Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.

Cells

Avec: Marcello Scala , Masashi Nishikawa , Koh-Ichi Nagata , Pasquale Striano

Biallelic Variants in

International journal of molecular sciences

Avec: Antonella Riva , Antonella Gambadauro , Valeria Dipasquale , Celeste Casto , Maria Domenica Ceravolo , Andrea Accogli , Marcello Scala , Giorgia Ceravolo , Michele Iacomino , Federico Zara , Pasquale Striano , Caterina Cuppari , Gabriella Di Rosa , Maria Concetta Cutrupi , Vincenzo Salpietro , Roberto Chimenz

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

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.

Epilepsia

Avec: Marcello Scala , Stephanie Efthymiou , Tipu Sultan , Jolien De Waele , Marta Panciroli , Vincenzo Salpietro , Reza Maroofian , Pasquale Striano , Filip Van Petegem , Henry Houlden , Frank Bosmans

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

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

European journal of human genetics : EJHG

Avec: Monica Traverso , Serena Baratto , Michele Iacomino , Marco Di Duca , Chiara Panicucci , Sara Casalini , Marina Grandis , Antonio Falace , Annalaura Torella , Esther Picillo , Maria Elena Onore , Luisa Politano , Vincenzo Nigro , A Micheil Innes , Rita Barresi , Claudio Bruno , Federico Zara , Chiara Fiorillo , Marcello Scala

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.

Neuromuscular disorders : NMD

Avec: Gianmarco Severa , Alessandra Pennisi , Christine Barnerias , Chiara Fiorillo , Marcello Scala , Valentina Taglietti , Andreea Iuliana Cojocaru , Dima Jouni , Lucie Tosca , Gérard Tachdjian , Isabelle Desguerre , François-Jérome Authier , Robert-Yves Carlier , Corinne Metay , Camille Verebi , Edoardo Malfatti

The Safety of Body Wraps on Skin-to-Skin Care in the Neonatal Population: A Pilot Study.

Advances in neonatal care : official journal of the National Association of Neonatal Nurses

Avec: Allison Freccero , Melissa Scala , Kelly Andrasik McLeod , Bridgette Donahue , Macey Webb , Michelle Briggs , Ivette Najm , Monica Sinha , Lauren Santagata , Alex Dahlen , Annette Nasr

Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Human molecular genetics

Avec: James P Allen , Kathryn B Garber , Riley Perszyk , Cara T Khayat , Steven A Kell , Maki Kaneko , Catherine Quindipan , Sulagna Saitta , Roger L Ladda , Stacy Hewson , Michal Inbar-Feigenberg , Chitra Prasad , Asuri N Prasad , Leah Olewiler , Weiyi Mu , Liana S Rosenthal , Marcello Scala , Pasquale Striano , Federico Zara , Tyler W McCullock , Robin-Tobias Jauss , Johannes R Lemke , David M MacLean , Cheng Zhu , Hongjie Yuan , Scott J Myers , Stephen F Traynelis

Early, low-dose hydrocortisone and near-term brain connectivity in extremely preterm infants.

Pediatric research

Avec: Sarah E Dubner , Lucy Rickerich , Lisa Bruckert , Rocío Velasco Poblaciones , Dawson Sproul , Melissa Scala , Heidi M Feldman , Katherine E Travis

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series.

Seizure

Avec: Nadia Ronzano , Marcello Scala , Emanuela Abiusi , Ilaria Contaldo , Chiara Leoni , Maria Stella Vari , Tiziana Pisano , Domenica Battaglia , Maurizio Genuardi , Maurizio Elia , Pasquale Striano , Dario Pruna

Réseau de co-auteurs

Marcello Scala 10 collaborations

Pasquale Striano 7 collaborations

Melissa Scala 3 collaborations

Michele Iacomino 3 collaborations

Federico Zara 3 collaborations

Maria Stella Vari 3 collaborations

Andrea Accogli 2 collaborations

Valeria Capra 2 collaborations

Vincenzo Salpietro 2 collaborations

Roberta Epifanio 2 collaborations

Maurizio Elia 2 collaborations

Alessandro Orsini 2 collaborations

Alice Bonuccelli 2 collaborations

Federico Vigevano 2 collaborations

Vincenzo Nigro 2 collaborations

Chiara Fiorillo 2 collaborations

Jennifer Berg 1 collaboration

Martin Keszler 1 collaboration

Kabir Abubakar 1 collaboration

Anna Maria Elsa Allegri 1 collaboration

Elisa Tassano 1 collaboration

Mariasavina Severino 1 collaboration

Giovanni Morana 1 collaboration

Mohamad Maghnie 1 collaboration

Masashi Nishikawa 1 collaboration

Koh-Ichi Nagata 1 collaboration

Antonella Riva 1 collaboration

Antonella Gambadauro 1 collaboration

Valeria Dipasquale 1 collaboration

Celeste Casto 1 collaboration

Maria Domenica Ceravolo 1 collaboration

Giorgia Ceravolo 1 collaboration

Caterina Cuppari 1 collaboration

Gabriella Di Rosa 1 collaboration

Maria Concetta Cutrupi 1 collaboration

Roberto Chimenz 1 collaboration

Federico Raviglione 1 collaboration

Sofia Douzgou 1 collaboration

Alessia Mingarelli 1 collaboration

Stefano D'Arrigo 1 collaboration

Elena Freri 1 collaboration

Francesca Darra 1 collaboration

Sabrina Giglio 1 collaboration

Maria C Bonaglia 1 collaboration

Chiara Pantaleoni 1 collaboration

Massimo Mastrangelo 1 collaboration

Veronica Saletti 1 collaboration

Silvia Morlino 1 collaboration

Paola De Liso 1 collaboration

Julija Pavaine 1 collaboration

Luigina Spaccini 1 collaboration

Elisa Cattaneo 1 collaboration

Elena Gardella 1 collaboration

Rikke S Møller 1 collaboration

Francesca Marchese 1 collaboration

Clara Colonna 1 collaboration

Claudia Gandioli 1 collaboration

Giuseppe Gobbi 1 collaboration

Dipak Ram 1 collaboration

Orazio Palumbo 1 collaboration

Massimo Carella 1 collaboration

Michele Germano 1 collaboration

Davide Tonduti 1 collaboration

Diego De Angelis 1 collaboration

Davide Caputo 1 collaboration

Patrizia Bergonzini 1 collaboration

Francesca Novara 1 collaboration

Orsetta Zuffardi 1 collaboration

Alberto Verrotti 1 collaboration

Maria Carmela De Muto 1 collaboration

Marina Trivisano 1 collaboration

Tiziana Granata 1 collaboration

Bernardo Dalla Bernardina 1 collaboration

Antonia Tranchina 1 collaboration

Stephanie Efthymiou 1 collaboration

Tipu Sultan 1 collaboration

Jolien De Waele 1 collaboration

Marta Panciroli 1 collaboration

Reza Maroofian 1 collaboration

Filip Van Petegem 1 collaboration

Henry Houlden 1 collaboration

Frank Bosmans 1 collaboration

Andrea Santangelo 1 collaboration

Francesca Bravin 1 collaboration

Diego Peroni 1 collaboration

Roberta Battini 1 collaboration

Thomas Foiadelli 1 collaboration

Veronica Bertini 1 collaboration

Angelo Valetto 1 collaboration

Anna Laura Torella 1 collaboration

Anna Fetta 1 collaboration

Veronica Di Pisa 1 collaboration

Francesca Montanari 1 collaboration

Paolo Bonanni 1 collaboration

Roberto Giorda 1 collaboration

Francesca Operto 1 collaboration

Grazia Pastorino 1 collaboration

Esra Sarigecili 1 collaboration

Esra Sardaroglu 1 collaboration

Cetin Okuyaz 1 collaboration

Sevgan Bozdogan 1 collaboration

Luciana Musante 1 collaboration

Flavio Faletra 1 collaboration

Caterina Zanus 1 collaboration

Alessandro Ferretti 1 collaboration

Duccio Maria Cordelli 1 collaboration

Monica Traverso 1 collaboration

Serena Baratto 1 collaboration

Marco Di Duca 1 collaboration

Chiara Panicucci 1 collaboration

Sara Casalini 1 collaboration

Marina Grandis 1 collaboration

Antonio Falace 1 collaboration

Annalaura Torella 1 collaboration

Esther Picillo 1 collaboration

Maria Elena Onore 1 collaboration

Luisa Politano 1 collaboration

A Micheil Innes 1 collaboration

Rita Barresi 1 collaboration

Claudio Bruno 1 collaboration

Gianmarco Severa 1 collaboration

Alessandra Pennisi 1 collaboration

Christine Barnerias 1 collaboration

Valentina Taglietti 1 collaboration

Andreea Iuliana Cojocaru 1 collaboration

Dima Jouni 1 collaboration

Lucie Tosca 1 collaboration

Gérard Tachdjian 1 collaboration

Isabelle Desguerre 1 collaboration

François-Jérome Authier 1 collaboration

Robert-Yves Carlier 1 collaboration

Corinne Metay 1 collaboration

Camille Verebi 1 collaboration

Edoardo Malfatti 1 collaboration

Allison Freccero 1 collaboration

Kelly Andrasik McLeod 1 collaboration

Bridgette Donahue 1 collaboration

Macey Webb 1 collaboration

Michelle Briggs 1 collaboration

Ivette Najm 1 collaboration

Monica Sinha 1 collaboration

Lauren Santagata 1 collaboration

Alex Dahlen 1 collaboration

Annette Nasr 1 collaboration

James P Allen 1 collaboration

Kathryn B Garber 1 collaboration

Riley Perszyk 1 collaboration

Cara T Khayat 1 collaboration

Steven A Kell 1 collaboration

Maki Kaneko 1 collaboration

Catherine Quindipan 1 collaboration

Sulagna Saitta 1 collaboration

Roger L Ladda 1 collaboration

Stacy Hewson 1 collaboration

Michal Inbar-Feigenberg 1 collaboration

Chitra Prasad 1 collaboration

Asuri N Prasad 1 collaboration

Leah Olewiler 1 collaboration

Weiyi Mu 1 collaboration

Liana S Rosenthal 1 collaboration

Tyler W McCullock 1 collaboration

Robin-Tobias Jauss 1 collaboration

Johannes R Lemke 1 collaboration

David M MacLean 1 collaboration

Cheng Zhu 1 collaboration

Hongjie Yuan 1 collaboration

Scott J Myers 1 collaboration

Stephen F Traynelis 1 collaboration

Sarah E Dubner 1 collaboration

Lucy Rickerich 1 collaboration

Lisa Bruckert 1 collaboration

Rocío Velasco Poblaciones 1 collaboration

Dawson Sproul 1 collaboration

Heidi M Feldman 1 collaboration

Katherine E Travis 1 collaboration

Nadia Ronzano 1 collaboration

Emanuela Abiusi 1 collaboration

Ilaria Contaldo 1 collaboration

Chiara Leoni 1 collaboration

Tiziana Pisano 1 collaboration

Domenica Battaglia 1 collaboration

Maurizio Genuardi 1 collaboration

Dario Pruna 1 collaboration