Abiusi, Emanuela
Abiusi, Emanuela
ROMA - Dipartimento di Scienze della vita e sanità pubblica
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands
2024 Abiusi, Emanuela; Costa-Roger, Mar; Bertini, Enrico Silvio; Tiziano, Francesco Danilo; F Tizzano, Eduardo; Participants, All
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
2024 Pane, Marika; Stanca, Giulia; Ticci, Chiara; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, Matteo; Coratti, Giorgia; Palermo, Concetta; Berti, Beatrice; Leone, Daniela; Sacchini, Michele; Cerboneschi, Margherita; Fanelli, Lavinia; Norcia, Giulia; Forcina, Nicola; Capasso, Anna; Cicala, Gianpaolo; Antonaci, Laura; Ricci, Martina; Pera, Maria Carmela; Bravetti, Chiara; Donati, Maria Alice; Procopio, Elena; Abiusi, Emanuela; Vaisfeld, Alessandro; Onesimo, Roberta; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
2023 Panagiotakaki, Eleni; Tiziano, Francesco Danilo; Mikati, Mohamad A.; Vijfhuizen, Lisanne S.; Nicole5, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; AHC Consortium, I. B.; Consortium, Iahcrc; Harder, Aster V. E.; Walley, Nicole M.; De Grandis, Elisa; Poulat, Anne-Lise; Des Portes, Vincent; Lépine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H.; L. George Jr., Alfred; Gurrieri, Fiorella; van den Maagdenberg, Arn M. J. M.; Heinzen, Erin L.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis
2023 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
2022 Walsh, Roddy; Adler, Arnon; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Bikker, Hennie; Amenta, Simona; Feilotter, Harriet; Nannenberg, Eline A; Mazzarotto, Francesco; Trevisan, Valentina; Garcia, John; Hershberger, Ray E; Perez, Marco V; Sturm, Amy C; Ware, James S; Zareba, Wojciech; Novelli, Valeria; Wilde, Arthur A M; Gollob, Michael H
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
2022 Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, T; Angeloni, A; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
2022 Pane, Marika; Donati, M. A.; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, M.; Coratti, Giorgia; Ricci, Martina; Palermo, C.; Berti, B.; Leone, D.; Ticci, C.; Sacchini, M.; Cerboneschi, M.; Capasso, Anna; Cicala, Gianpaolo; Pera, Maria Carmela; Bravetti, C.; Abiusi, Emanuela; Vaisfeld, Alessandro; Vento, Giovanni; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2022 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
2022 Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D.
Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium
2022 Pastorino, Roberta; Sassano, Michele; Tiziano, Danilo Francesco; Giraldi, Luca; Amore, Rosarita; Arzani, Dario; Abiusi, Emanuela; Ahrens, Wolfgang; Alemany Vilches, Laia; Canova, Cristina; Healy, Claire Mary; Holcatova, Ivana; Lagiou, Pagona; Polesel, Jerry; Popovic, Maja; Nygård, Ståle; Cadoni, Gabriella; Znaor, Ariana; Boffetta, Paolo; Matsuo, Keitaro; Oze, Isao; Brennan, Paul; Boccia, Stefania
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
2021 Abiusi, Emanuela; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, Marika; Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Diano, Federica; Novelli, Agnese; Spartano, Serena; Fiori, Simona; Baranello, Giovanni; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, Krizia; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, Francesco; Bruno, C.; Locatelli, D.; Bertini, Enrico Silvio; Morandi, L. O.; Mercuri, Eugenio Maria; Di Marcotullio, L.; Tiziano, Francesco Danilo
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
2021 Abiusi, E.; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, M.; Coratti, G.; Pera, M. C.; D'amico, A.; Diano, F.; Novelli, A.; Spartano, S.; Fiori, S.; Baranello, G.; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, K.; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, F.; Bruno, C.; Locatelli, D.; Bertini, E. S.; Morandi, L. O.; Mercuri, E.; Di Marcotullio, L.; Tiziano, F. D.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
2020 Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
2019 Tiziano, Fd; Lomastro, R; Abiusi, E; Pasanisi, Mb; Di Pietro, L; Fiori, Simona; Baranello, G; Angelini, C; Sorarù, G; Gaiani, A; Mongini, T; Vercelli, L; Mercuri, E; Vasco, G; Pane, M; Vita, G; Vita, G; Messina, S; Petillo, R; Passamano, L; Politano, L; Campanella, A; Mantegazza, R; Morandi, L.
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
2018 De Sanctis, Roberto; Pane, Marika; Coratti, Giorgia; Palermo, Concetta; Leone, Daniela; Pera, Maria Carmela; Abiusi, Emanuela; Fiori, Stefania; Forcina, Nicola; Fanelli, Lavinia; Lucibello, Simona; Mazzone, Elena S.; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis
2017 Abiusi, Emanuela; D'Alessandro, Manuela; Dieterich, Klaus; Quevarec, Loic; Turczynski, Sandrina; Valfort, Aurore-Cecile; Mezin, Paulette; Jouk, Pierre Simon; Gut, Marta; Gut, Ivo; Bessereau, Jean Louis; Melki, Judith
Longitudinal assessments in discordant twins with SMA
2017 Pane, Marika; Lapenta, Leonardo; Abiusi, Emanuela; De Sanctis, Roberto; Luigetti, Marco; Palermo, Concetta; Ranalli, Domiziana; Fiori, Stefania; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1
2015 Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R.
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study
2013 Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study
2012 Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2024 | 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands | Abiusi, Emanuela; Costa-Roger, Mar; Bertini, Enrico Silvio; Tiziano, Francesco Danilo; F Tizzano, Eduardo; Participants, All | |
| 1-gen-2024 | Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome? | Pane, Marika; Stanca, Giulia; Ticci, Chiara; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, Matteo; Coratti, Giorgia; Palermo, Concetta; Berti, Beatrice; Leone, Daniela; Sacchini, Michele; Cerboneschi, Margherita; Fanelli, Lavinia; Norcia, Giulia; Forcina, Nicola; Capasso, Anna; Cicala, Gianpaolo; Antonaci, Laura; Ricci, Martina; Pera, Maria Carmela; Bravetti, Chiara; Donati, Maria Alice; Procopio, Elena; Abiusi, Emanuela; Vaisfeld, Alessandro; Onesimo, Roberta; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
| 1-gen-2023 | Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene | Panagiotakaki, Eleni; Tiziano, Francesco Danilo; Mikati, Mohamad A.; Vijfhuizen, Lisanne S.; Nicole5, Sophie; Lesca, Gaetan; Abiusi, Emanuela; Novelli, Agnese; Di Pietro, Lorena; AHC Consortium, I. B.; Consortium, Iahcrc; Harder, Aster V. E.; Walley, Nicole M.; De Grandis, Elisa; Poulat, Anne-Lise; Des Portes, Vincent; Lépine, Anne; Nassogne, Marie-Cecile; Arzimanoglou, Alexis; Vavassori, Rosaria; Koenderink, Jan; Thompson, Christopher H.; L. George Jr., Alfred; Gurrieri, Fiorella; van den Maagdenberg, Arn M. J. M.; Heinzen, Erin L. | |
| 1-gen-2023 | Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis | Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A.; Spartano, Serena; Faggiano, M. V.; Giovanniello, T.; Angeloni, A.; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A.; Costa, S.; Porzi, A.; Panella, M.; Ticci, C.; Daniotti, M.; Sacchini, M.; Boschi, I.; Dani, C.; Agostiniani, R.; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G.; Genuardi, Maurizio; Pane, Marika; Donati, M. A.; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 1-gen-2022 | Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death | Walsh, Roddy; Adler, Arnon; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Bikker, Hennie; Amenta, Simona; Feilotter, Harriet; Nannenberg, Eline A; Mazzarotto, Francesco; Trevisan, Valentina; Garcia, John; Hershberger, Ray E; Perez, Marco V; Sturm, Amy C; Ware, James S; Zareba, Wojciech; Novelli, Valeria; Wilde, Arthur A M; Gollob, Michael H | |
| 1-gen-2022 | Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis | Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, T; Angeloni, A; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo | |
| 1-gen-2022 | Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening | Pane, Marika; Donati, M. A.; Cutrona, Costanza; De Sanctis, Roberto; Pirinu, M.; Coratti, Giorgia; Ricci, Martina; Palermo, C.; Berti, B.; Leone, D.; Ticci, C.; Sacchini, M.; Cerboneschi, M.; Capasso, Anna; Cicala, Gianpaolo; Pera, Maria Carmela; Bravetti, C.; Abiusi, Emanuela; Vaisfeld, Alessandro; Vento, Giovanni; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
| 1-gen-2022 | Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita | Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith | |
| 1-gen-2022 | Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series | Ronzano, N; Scala, M; Abiusi, Emanuela; Contaldo, Ilaria; Leoni, Chiara; Vari, Ms; Pisano, T; Battaglia, Domenica Immacolata; Genuardi, Maurizio; Elia, M; Striano, P; Pruna, D. | |
| 1-gen-2022 | Plasma miR-151-3p as a candidate diagnostic biomarker for head and neck cancer: a cross-sectional study within the INHANCE consortium | Pastorino, Roberta; Sassano, Michele; Tiziano, Danilo Francesco; Giraldi, Luca; Amore, Rosarita; Arzani, Dario; Abiusi, Emanuela; Ahrens, Wolfgang; Alemany Vilches, Laia; Canova, Cristina; Healy, Claire Mary; Holcatova, Ivana; Lagiou, Pagona; Polesel, Jerry; Popovic, Maja; Nygård, Ståle; Cadoni, Gabriella; Znaor, Ariana; Boffetta, Paolo; Matsuo, Keitaro; Oze, Isao; Brennan, Paul; Boccia, Stefania | |
| 1-gen-2021 | SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples | Abiusi, Emanuela; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, Marika; Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Diano, Federica; Novelli, Agnese; Spartano, Serena; Fiori, Simona; Baranello, Giovanni; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, Krizia; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, Francesco; Bruno, C.; Locatelli, D.; Bertini, Enrico Silvio; Morandi, L. O.; Mercuri, Eugenio Maria; Di Marcotullio, L.; Tiziano, Francesco Danilo | |
| 1-gen-2021 | SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples | Abiusi, E.; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, M.; Coratti, G.; Pera, M. C.; D'amico, A.; Diano, F.; Novelli, A.; Spartano, S.; Fiori, S.; Baranello, G.; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, K.; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, F.; Bruno, C.; Locatelli, D.; Bertini, E. S.; Morandi, L. O.; Mercuri, E.; Di Marcotullio, L.; Tiziano, F. D. | |
| 1-gen-2020 | An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome | Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H | |
| 1-gen-2019 | Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol | Tiziano, Fd; Lomastro, R; Abiusi, E; Pasanisi, Mb; Di Pietro, L; Fiori, Simona; Baranello, G; Angelini, C; Sorarù, G; Gaiani, A; Mongini, T; Vercelli, L; Mercuri, E; Vasco, G; Pane, M; Vita, G; Vita, G; Messina, S; Petillo, R; Passamano, L; Politano, L; Campanella, A; Mantegazza, R; Morandi, L. | |
| 1-gen-2018 | Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy | De Sanctis, Roberto; Pane, Marika; Coratti, Giorgia; Palermo, Concetta; Leone, Daniela; Pera, Maria Carmela; Abiusi, Emanuela; Fiori, Stefania; Forcina, Nicola; Fanelli, Lavinia; Lucibello, Simona; Mazzone, Elena S.; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
| 1-gen-2017 | Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis | Abiusi, Emanuela; D'Alessandro, Manuela; Dieterich, Klaus; Quevarec, Loic; Turczynski, Sandrina; Valfort, Aurore-Cecile; Mezin, Paulette; Jouk, Pierre Simon; Gut, Marta; Gut, Ivo; Bessereau, Jean Louis; Melki, Judith | |
| 1-gen-2017 | Longitudinal assessments in discordant twins with SMA | Pane, Marika; Lapenta, Leonardo; Abiusi, Emanuela; De Sanctis, Roberto; Luigetti, Marco; Palermo, Concetta; Ranalli, Domiziana; Fiori, Stefania; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
| 1-gen-2015 | Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 | Rubboli, G; Veggiotti, P; Pini, A; Berardinelli, A; Cantalupo, G; Bertini, E; Tiziano, Francesco Danilo; D'Amico, A; Piazza, E; Abiusi, Emanuela; Fiori, S; Pasini, E; Darra, F; Gobbi, G; Michelucci, R. | |
| 1-gen-2013 | Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study | Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia | |
| 1-gen-2012 | Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study | Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia |