BATTINI, ROBERTA Statistiche
BATTINI, ROBERTA
DIPARTIMENTO DI MEDICINA CLINICA E SPERIMENTALE
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study
2024-01-01 Menici, V.; Scalise, R.; Fasano, A.; Falotico, E.; Dubbini, N.; Prencipe, G.; Sgandurra, G.; Filogna, S.; Battini, R.
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study
2024-01-01 Ricci, Giulia; Govoni, Alessandra; Torri, Francesca; Astrea, Guja; Buchignani, Bianca; Marinella, Gemma; Battini, Roberta; Manca, Maria Laura; Castiglione, Vincenzo; Giannoni, Alberto; Emdin, Michele; Siciliano, Gabriele
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
2024-01-01 Bloomfield, Madeleine; Lautarescu, Alexandra; Heraty, Síofra; Douglas, Sarah; Violland, Pierre; Plas, Roderik; Ghosh, Anjuli; Van den Bosch, Katrien; Eaton, Eliza; Absoud, Michael; Battini, Roberta; Blázquez Hinojosa, Ana; Bolshakova, Nadia; Bölte, Sven; Bonanni, Paolo; Borg, Jacqueline; Calderoni, Sara; Calvo Escalona, Rosa; Castelo-Branco, Miguel; Castro-Fornieles, Josefina; Caro, Pilar; Cliquet, Freddy; Danieli, Alberto; Delorme, Richard; Elia, Maurizio; Hempel, Maja; Leblond, Claire S; Madeira, Nuno; Mcalonan, Grainne; Milone, Roberta; Molloy, Ciara J; Mouga, Susana; Montiel, Virginia; Pina Rodrigues, Ana; Schaaf, Christian P; Serrano, Mercedes; Tammimies, Kristiina; Tye, Charlotte; Vigevano, Federico; Oliveira, Guiomar; Mazzone, Beatrice; O'Neill, Cara; Pender, Julie; Romero, Verena; Tillmann, Julian; Oakley, Bethany; Murphy, Declan G M; Gallagher, Louise; Bourgeron, Thomas; Chatham, Christopher; Charman, Tony
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers
2023-01-01 Scaffei, Elena; Mazziotti, Raffaele; Conti, Eugenia; Costanzo, Valeria; Calderoni, Sara; Stoccoro, Andrea; Carmassi, Claudia; Tancredi, Raffaella; Baroncelli, Laura; Battini, Roberta
Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications
2023-01-01 Narzisi, Antonio; Alcantud-Marin, Francisco; Alonso-Esteban, Yurena; Battini, Roberta; Cantiani, Chiara; Conti, Eugenia; Fusar-Poli, Laura; Lecciso, Flavia; Levante, Annalisa; Mazzone, Luigi; Milone, Annarita; Riva, Valentina; Siracusano, Martina; Aguglia, Eugenio
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023-01-01 Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab
2023-01-01 Scaffei, Elena; Buchignani, Bianca; Pasquariello, Rosa; Cristofani, Paola; Canapicchi, Raffaello; Biagi, Laura; Giordano, Flavio; De Marco, Emanuela; Crow, Yanick J; Battini, Roberta
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome
2023-01-01 Dragoni, Francesca; Garau, Jessica; Orcesi, Simona; Varesio, Costanza; Bordoni, Matteo; Scarian, Eveljn; Di Gerlando, Rosalinda; Fazzi, Elisa; Battini, Roberta; Gjurgjaj, Altea; Rizzo, Bartolo; Pansarasa, Orietta; Gagliardi, Stella
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
2023-01-01 Marinella, Gemma; Orsini, Alessandro; Scacciati, Massimo; Costa, Elisa; Santangelo, Andrea; Astrea, Guja; Frosini, Silvia; Pasquariello, Rosa; Rubegni, Anna; Sgherri, Giada; Corsi, Martina; Bonuccelli, Alice; Battini, Roberta
Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral Palsy
2023-01-01 Claassen, Daniel O; Riordan, Heather R; Dure, Leon S; Battini, Roberta; Cortez, Alma; Gordon, Mark Forrest; O'Connor, Meaghan; Jackson, Kristi; Foster, April; Kosinski, Mark
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023-01-01 Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; Mccullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review
2023-01-01 Stoccoro, Andrea; Conti, Eugenia; Scaffei, Elena; Calderoni, Sara; Coppedè, Fabio; Migliore, Lucia; Battini, Roberta
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?
2023-01-01 Pane, Marika; Coratti, Giorgia; Brogna, Claudia; Bovis, Francesca; D'Amico, Adele; Pegoraro, Elena; Bello, Luca; Sansone, Valeria; Albamonte, Emilio; Ferraroli, Elisabetta; Mazzone, Elena Stacy; Fanelli, Lavinia; Messina, Sonia; Catteruccia, Michela; Cicala, Gianpaolo; Ricci, Martina; Frosini, Silvia; De Luca, Giacomo; Rolle, Enrica; De Sanctis, Roberto; Forcina, Nicola; Norcia, Giulia; Passamano, Luigia; Gardani, Alice; Pini, Antonella; Monaco, Giulia; D'Angelo, Maria Grazia; Capasso, Anna; Leone, Daniela; Zanin, Riccardo; Vita, Gian Luca; Panicucci, Chiara; Bruno, Claudio; Mongini, Tiziana; Ricci, Federica; Berardinelli, Angela; Battini, Roberta; Masson, Riccardo; Baranello, Giovanni; Dosi, Claudia; Bertini, Enrico; Politano, Luisa; Mercuri, Eugenio
Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember
2023-01-01 Costagliola, Giorgio; Vallario, Michele Pio; Santangelo, Andrea; Foiadelli, Thomas; Ragone, Maria Cristina; Battini, Roberta; Tinelli, Francesca; Di Cicco, Maria Elisa; Bonuccelli, Alice; Gaeta, Giovanni; Iozzi, Chiara; Peroni, Diego; Operto, Francesca Felicia; Consolini, Rita; Orsini, Alessandro
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae
2023-01-01 Caron-Godon, Chenelle A; Della Vecchia, Stefania; Romano, Alessandro; Doccini, Stefano; Dal Canto, Flavio; Pasquariello, Rosa; Rubegni, Anna; Battini, Roberta; Santorelli, Filippo Maria; Glerum, D Moira; Nesti, Claudia
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?
2023-01-01 Buchignani, Bianca; Cicala, Gianpaolo; Moriconi, Federica; Ricci, Martina; Capasso, Anna; Coratti, Giorgia; Casiraghi, Jacopo; Albamonte, Emilio; Cristofani, Paola; Cutrona, Costanza; Pera, Maria C; Antonaci, Laura; Roncoroni, Camilla; Chieffo, Daniela; Sansone, Valeria A; Battini, Roberta; Pane, Marika; Mercuri, Eugenio
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
2023-01-01 Serpieri, Valentina; Mortarini, Giulia; Loucks, Hailey; Biagini, Tommaso; Micalizzi, Alessia; Palmieri, Ilaria; Dempsey, Jennifer C; D'Abrusco, Fulvio; Mazzotta, Concetta; Battini, Roberta; Bertini, Enrico Silvio; Boltshauser, Eugen; Borgatti, Renato; Brockmann, Knut; D'Arrigo, Stefano; Nardocci, Nardo; Fischetto, Rita; Agolini, Emanuele; Novelli, Antonio; Romano, Alfonso; Romaniello, Romina; Stanzial, Franco; Signorini, Sabrina; Strisciuglio, Pietro; Gana, Simone; Mazza, Tommaso; Doherty, Dan; Valente, Enza Maria
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome
2023-01-01 Fiorentini, Erika; Giunti, Laura; Di Rita, Andrea; Peraio, Simone; Fonte, Carla; Caporalini, Chiara; Buccoliero, Anna Maria; Censullo, Maria Luigia; Gori, Giulia; Noris, Alice; Pasquariello, Rosa; Battini, Roberta; Pavone, Rossana; Giordano, Flavio; Giglio, Sabrina; Rinaldi, Berardo
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
2023-01-01 Brogna, Claudia; Pane, Marika; Coratti, Giorgia; D'Amico, Adele; Pegoraro, Elena; Bello, Luca; Sansone, Valeria Ada Maria; Albamonte, Emilio; Messina, Sonia; Pini, Antonella; D'Angelo, Maria Grazia; Bruno, Claudio; Mongini, Tiziana; Ricci, Federica Silvia; Berardinelli, Angela; Battini, Roberta; Masson, Riccardo; Bertini, Enrico Silvio; Politano, Luisa; Mercuri, Eugenio; Italian Dmd Group, Null
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma
2022-01-01 Gautam, Mukesh; Carratore, Renata Del; Helmold, Benjamin; Tessa, Alessandra; Gozutok, Oge; Chandel, Navdeep; Idrisoglu, Halil; Bongioanni, Paolo; Battini, Roberta; Ozdinler, P Hande
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Assessment of Postural Control in Children with Movement Disorders by Means of a New Technological Tool: A Pilot Study | 1-gen-2024 | Menici, V.; Scalise, R.; Fasano, A.; Falotico, E.; Dubbini, N.; Prencipe, G.; Sgandurra, G.; Filogna, S.; Battini, R. | |
Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study | 1-gen-2024 | Ricci, Giulia; Govoni, Alessandra; Torri, Francesca; Astrea, Guja; Buchignani, Bianca; Marinella, Gemma; Battini, Roberta; Manca, Maria Laura; Castiglione, Vincenzo; Giannoni, Alberto; Emdin, Michele; Siciliano, Gabriele | |
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry | 1-gen-2024 | Bloomfield, Madeleine; Lautarescu, Alexandra; Heraty, Síofra; Douglas, Sarah; Violland, Pierre; Plas, Roderik; Ghosh, Anjuli; Van den Bosch, Katrien; Eaton, Eliza; Absoud, Michael; Battini, Roberta; Blázquez Hinojosa, Ana; Bolshakova, Nadia; Bölte, Sven; Bonanni, Paolo; Borg, Jacqueline; Calderoni, Sara; Calvo Escalona, Rosa; Castelo-Branco, Miguel; Castro-Fornieles, Josefina; Caro, Pilar; Cliquet, Freddy; Danieli, Alberto; Delorme, Richard; Elia, Maurizio; Hempel, Maja; Leblond, Claire S; Madeira, Nuno; Mcalonan, Grainne; Milone, Roberta; Molloy, Ciara J; Mouga, Susana; Montiel, Virginia; Pina Rodrigues, Ana; Schaaf, Christian P; Serrano, Mercedes; Tammimies, Kristiina; Tye, Charlotte; Vigevano, Federico; Oliveira, Guiomar; Mazzone, Beatrice; O'Neill, Cara; Pender, Julie; Romero, Verena; Tillmann, Julian; Oakley, Bethany; Murphy, Declan G M; Gallagher, Louise; Bourgeron, Thomas; Chatham, Christopher; Charman, Tony | |
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers | 1-gen-2023 | Scaffei, Elena; Mazziotti, Raffaele; Conti, Eugenia; Costanzo, Valeria; Calderoni, Sara; Stoccoro, Andrea; Carmassi, Claudia; Tancredi, Raffaella; Baroncelli, Laura; Battini, Roberta | |
Autism and Neurodevelopmental Disorders: The SARS-CoV-2 Pandemic Implications | 1-gen-2023 | Narzisi, Antonio; Alcantud-Marin, Francisco; Alonso-Esteban, Yurena; Battini, Roberta; Cantiani, Chiara; Conti, Eugenia; Fusar-Poli, Laura; Lecciso, Flavia; Levante, Annalisa; Mazzone, Luigi; Milone, Annarita; Riva, Valentina; Siracusano, Martina; Aguglia, Eugenio | |
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | 1-gen-2023 | Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry | |
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab | 1-gen-2023 | Scaffei, Elena; Buchignani, Bianca; Pasquariello, Rosa; Cristofani, Paola; Canapicchi, Raffaello; Biagi, Laura; Giordano, Flavio; De Marco, Emanuela; Crow, Yanick J; Battini, Roberta | |
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome | 1-gen-2023 | Dragoni, Francesca; Garau, Jessica; Orcesi, Simona; Varesio, Costanza; Bordoni, Matteo; Scarian, Eveljn; Di Gerlando, Rosalinda; Fazzi, Elisa; Battini, Roberta; Gjurgjaj, Altea; Rizzo, Bartolo; Pansarasa, Orietta; Gagliardi, Stella | |
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature | 1-gen-2023 | Marinella, Gemma; Orsini, Alessandro; Scacciati, Massimo; Costa, Elisa; Santangelo, Andrea; Astrea, Guja; Frosini, Silvia; Pasquariello, Rosa; Rubegni, Anna; Sgherri, Giada; Corsi, Martina; Bonuccelli, Alice; Battini, Roberta | |
Content Validation of the Movement Disorder-Childhood Rating Scale (MD-CRS) for Dyskinetic Cerebral Palsy | 1-gen-2023 | Claassen, Daniel O; Riordan, Heather R; Dure, Leon S; Battini, Roberta; Cortez, Alma; Gordon, Mark Forrest; O'Connor, Meaghan; Jackson, Kristi; Foster, April; Kosinski, Mark | |
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature | 1-gen-2023 | Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; Mccullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan | |
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review | 1-gen-2023 | Stoccoro, Andrea; Conti, Eugenia; Scaffei, Elena; Calderoni, Sara; Coppedè, Fabio; Migliore, Lucia; Battini, Roberta | |
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? | 1-gen-2023 | Pane, Marika; Coratti, Giorgia; Brogna, Claudia; Bovis, Francesca; D'Amico, Adele; Pegoraro, Elena; Bello, Luca; Sansone, Valeria; Albamonte, Emilio; Ferraroli, Elisabetta; Mazzone, Elena Stacy; Fanelli, Lavinia; Messina, Sonia; Catteruccia, Michela; Cicala, Gianpaolo; Ricci, Martina; Frosini, Silvia; De Luca, Giacomo; Rolle, Enrica; De Sanctis, Roberto; Forcina, Nicola; Norcia, Giulia; Passamano, Luigia; Gardani, Alice; Pini, Antonella; Monaco, Giulia; D'Angelo, Maria Grazia; Capasso, Anna; Leone, Daniela; Zanin, Riccardo; Vita, Gian Luca; Panicucci, Chiara; Bruno, Claudio; Mongini, Tiziana; Ricci, Federica; Berardinelli, Angela; Battini, Roberta; Masson, Riccardo; Baranello, Giovanni; Dosi, Claudia; Bertini, Enrico; Politano, Luisa; Mercuri, Eugenio | |
Neurovisual Manifestations in Children with Mild COVID-19: An Association to Remember | 1-gen-2023 | Costagliola, Giorgio; Vallario, Michele Pio; Santangelo, Andrea; Foiadelli, Thomas; Ragone, Maria Cristina; Battini, Roberta; Tinelli, Francesca; Di Cicco, Maria Elisa; Bonuccelli, Alice; Gaeta, Giovanni; Iozzi, Chiara; Peroni, Diego; Operto, Francesca Felicia; Consolini, Rita; Orsini, Alessandro | |
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae | 1-gen-2023 | Caron-Godon, Chenelle A; Della Vecchia, Stefania; Romano, Alessandro; Doccini, Stefano; Dal Canto, Flavio; Pasquariello, Rosa; Rubegni, Anna; Battini, Roberta; Santorelli, Filippo Maria; Glerum, D Moira; Nesti, Claudia | |
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment? | 1-gen-2023 | Buchignani, Bianca; Cicala, Gianpaolo; Moriconi, Federica; Ricci, Martina; Capasso, Anna; Coratti, Giorgia; Casiraghi, Jacopo; Albamonte, Emilio; Cristofani, Paola; Cutrona, Costanza; Pera, Maria C; Antonaci, Laura; Roncoroni, Camilla; Chieffo, Daniela; Sansone, Valeria A; Battini, Roberta; Pane, Marika; Mercuri, Eugenio | |
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome | 1-gen-2023 | Serpieri, Valentina; Mortarini, Giulia; Loucks, Hailey; Biagini, Tommaso; Micalizzi, Alessia; Palmieri, Ilaria; Dempsey, Jennifer C; D'Abrusco, Fulvio; Mazzotta, Concetta; Battini, Roberta; Bertini, Enrico Silvio; Boltshauser, Eugen; Borgatti, Renato; Brockmann, Knut; D'Arrigo, Stefano; Nardocci, Nardo; Fischetto, Rita; Agolini, Emanuele; Novelli, Antonio; Romano, Alfonso; Romaniello, Romina; Stanzial, Franco; Signorini, Sabrina; Strisciuglio, Pietro; Gana, Simone; Mazza, Tommaso; Doherty, Dan; Valente, Enza Maria | |
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome | 1-gen-2023 | Fiorentini, Erika; Giunti, Laura; Di Rita, Andrea; Peraio, Simone; Fonte, Carla; Caporalini, Chiara; Buccoliero, Anna Maria; Censullo, Maria Luigia; Gori, Giulia; Noris, Alice; Pasquariello, Rosa; Battini, Roberta; Pavone, Rossana; Giordano, Flavio; Giglio, Sabrina; Rinaldi, Berardo | |
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study | 1-gen-2023 | Brogna, Claudia; Pane, Marika; Coratti, Giorgia; D'Amico, Adele; Pegoraro, Elena; Bello, Luca; Sansone, Valeria Ada Maria; Albamonte, Emilio; Messina, Sonia; Pini, Antonella; D'Angelo, Maria Grazia; Bruno, Claudio; Mongini, Tiziana; Ricci, Federica Silvia; Berardinelli, Angela; Battini, Roberta; Masson, Riccardo; Bertini, Enrico Silvio; Politano, Luisa; Mercuri, Eugenio; Italian Dmd Group, Null | |
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma | 1-gen-2022 | Gautam, Mukesh; Carratore, Renata Del; Helmold, Benjamin; Tessa, Alessandra; Gozutok, Oge; Chandel, Navdeep; Idrisoglu, Halil; Bongioanni, Paolo; Battini, Roberta; Ozdinler, P Hande |