ARENA, ALESSIA CLAUDIA
ARENA, ALESSIA CLAUDIA
MEDICINA CLINICA E SPERIMENTALE
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases
2020-01-01 Fiumara, A; Lanzafame, G; Arena, A; Sapuppo, A; Raudino, F; Praticò, A; Pavone, P; Barone, R.
Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion
2020-01-01 Lo Bianco, M.; Vecchio, D.; Timpanaro, T. A.; Arena, A.; Macchiaiolo, M.; Bartuli, A.; Sciuto, L.; Presti, S.; Sciuto, S.; Sapuppo, A.; Fiumara, A.; Marino, L.; Messina, G.; Pavone, P.
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
2023-01-01 Fiumara, Agata; Sapuppo, Annamaria; Ferri, Lorenzo; Arena, Alessia; Prato, Adriana; Garozzo, Domenico; Sturiale, Luisa; Morrone, Amelia; Barone, Rita
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency
file da validare2020-01-01 Messina, M. A.; Arena, A.; Fiumara, A.; Iacobacci, R.; Meli, C.; Raudino, F.
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic
2023-01-01 Fiumara, Agata; Lanzafame, Giuseppina; Sapuppo, Annamaria; Arena, Alessia; Cirnigliaro, Lara; Barone, Rita
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024-01-01 Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mccormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases | 1-gen-2020 | Fiumara, A; Lanzafame, G; Arena, A; Sapuppo, A; Raudino, F; Praticò, A; Pavone, P; Barone, R. | |
| Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion | 1-gen-2020 | Lo Bianco, M.; Vecchio, D.; Timpanaro, T. A.; Arena, A.; Macchiaiolo, M.; Bartuli, A.; Sciuto, L.; Presti, S.; Sciuto, S.; Sapuppo, A.; Fiumara, A.; Marino, L.; Messina, G.; Pavone, P. | |
| Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation | 1-gen-2023 | Fiumara, Agata; Sapuppo, Annamaria; Ferri, Lorenzo; Arena, Alessia; Prato, Adriana; Garozzo, Domenico; Sturiale, Luisa; Morrone, Amelia; Barone, Rita | |
| Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency | 1-gen-2020 | Messina, M. A.; Arena, A.; Fiumara, A.; Iacobacci, R.; Meli, C.; Raudino, F. | file da validare |
| Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic | 1-gen-2023 | Fiumara, Agata; Lanzafame, Giuseppina; Sapuppo, Annamaria; Arena, Alessia; Cirnigliaro, Lara; Barone, Rita | |
| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features | 1-gen-2024 | Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mccormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon |