MANCUSO, MICHELANGELO Statistiche
MANCUSO, MICHELANGELO
DIPARTIMENTO DI MEDICINA CLINICA E SPERIMENTALE
Diagnosis and Management of Mitochondrial Disorder
In corso di stampa Mancuso, M
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis
In corso di stampa Lopriore, P; Palermo, G; Meli, A; Bellini, G; Benevento, E; Montano, V; Siciliano, G; Mancuso, M; Ceravolo, R
280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024
2025-01-01 Mancuso, Michelangelo; Lopriore, Piervito; Semmler, Luisa; Kornblum, Cornelia
An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype
2025-01-01 Lopriore, Piervito; Legati, Andrea; Neuhofer, Christiane Michaela; Gerfo, Annalisa Lo; Kopajtich, Robert; Barresi, Marco; Cecchi, Giulia; Pavlov, Martin; Izzo, Rossella; Montano, Vincenzo; Caligo, Maria Adelaide; Berutti, Riccardo; Mancuso, Michelangelo; Prokisch, Holger; Ghezzi, Daniele
Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey
2025-01-01 Jang, Dae-Gyu; Federico, Antonio; Savelieff, Masha G.; Grisold, Wolfgang; Mancuso, Michelangelo; Molnar, Maria J.; Feldman, Eva L.; Reynolds, Evan L.
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey
2025-01-01 Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; Mcfarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap
Diagnosis of hereditary ataxias: a real-world single center experience
2025-01-01 Meli, Adriana; Montano, Vincenzo; Palermo, Giovanni; Fogli, Antonella; Rocchi, Anna; Gerfo, Annalisa Lo; Maltomini, Rossella; Cori, Ludovica; Siniscalchi, Antonio; Bernardini, Clara; Cecchi, Giulia; Siciliano, Gabriele; Ceravolo, Roberto; Caligo, Maria Adelaide; Mancuso, Michelangelo; Lopriore, Piervito
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy
2025-01-01 Lopriore, Piervito; Migaleddu, Gianmichele; Tsai, Pei-Chien; Fogli, Antonella; Caligo, Maria Adelaide; Siciliano, Gabriele; Cosottini, Mirco; Lee, Yi-Chung; Liao, Yi-Chu; Mancuso, Michelangelo; Ceravolo, Roberto; Frosini, Daniela
Multidisciplinary consensus on the diagnosis and management of patients with atypical Hemolytic Uremic Syndrome (complement-mediated TMA): Recommendations from Italian scientific societies, patient associations and regulators
2025-01-01 Stea, Emma Diletta; Pugliano, Mariateresa; Gualtierotti, Roberta; Mazzucato, Monica; Santangelo, Luisa; Annicchiarico, Giuseppina; Berardelli, Alfredo; Bianchi, Stefano; Bogliolo, Laura; Chiandotto, Paolo; Cirino, Giuseppe; De Iaco, Fabio; De Rosa, Silvia; Dentali, Francesco; Facchin, Paola; Favalli, Ennio ; Giulio, ; Fiorin, Francesco; Giarratano, Antonino; Laterza, Claudia; Macrì, Francesco; Mancuso, Michelangelo; Padovani, Alessandro; Pasini, Andrea; Scopinaro, Annalisa Maddalena; Sebastiani, Gian Domenico; Sesti, Giorgio; Susi, Beniamino; Torsello, Antonio; Vezzoni, Cinzia; Zanlari, Luca; Gesualdo, Loreto; De Luca, Annamaria
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
2025-01-01 Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina
PHEMI—Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open–Label Trial
2025-01-01 Marchet, Silvia; Catania, Alessia; Ardissone, Anna; Montano, Vincenzo; Einvag, Krisztina; Iermito, Maria Pia; Sala, Daniele; Spagnolo, Manuela; Mauro, Elena; Lamantea, Eleonora; Cecchi, Giulia; Lopriore, Piervito; Mancuso, Michelangelo; Lamperti, Costanza
Statin therapy in ischemic stroke patients with atrial fibrillation: Efficacy and safety outcomes
2025-01-01 Marvardi, Michele; Paciaroni, Maurizio; Caso, Valeria; Marvardi, Michele; Ferrante, Mario; Abdul-Rahim, Azmil; Georgios Tsivgoulis, Md; Julian Seiffge, David; Engelter, Stefan T.; Lyrer, Philippe; Polymeris, Alexandros A.; Dittrich, Tolga; Cancelloni, Virginia; Zietz, Annaelle; Marco De Marchis, Gian; Putaala, Jukka; Strbian, Daniel; Tomppo, Liisa; Michel, Patrik; Strambo, Davide; Salerno, Alexander; Vanacker, Peter; Zuurbier, Susanna; Yperzeele, Laetitia; Loos, Caroline M. J.; Cappellari, Manuel; Emiliani, Andrea; Zedde, Marialuisa; Becattini, Cecilia; Pascarella, Rosario; Dawson, Jesse; Cronshaw, Robert; Schirinzi, Erika; Del Sette, Massimo; Stretz, Christoph; Kala, Narendra; Schomer, Ashley; Mac Grory, Brian; Jayaraman, Mahesh; Yaghi, Shadi; Furie, Karen L.; Masotti, Luca; Grifoni, Elisa; Toni, Danilo; Risitano, Angela; Falcou, Anne; Petraglia, Luca; Maria Lotti, Enrico; Pavolucci, Lucia; Lochner, Piergiorgio; Silvestrelli, Giorgio; Ciccone, Alfonso; Alberti, Andrea; Venti, Michele; Leone De Magistris, Ilaria; Giulia Mosconi, Maria; Giustozzi, Michela; Kargiotis, Odysseas; Rocco, Alessandro; Diomedi, Marina; Marcheselli, Simona; Antonenko, Kateryna; Rota, Eugenia; Tassinari, Tiziana; Saia, Valentina; Palmerini, Francesco; Aridon, Paolo; Arnao, Valentina; Monaco, Serena; Cottone, Salvatore; Baldi, Antonio; D'Amore, Cataldo; Ageno, Walter; Pegoraro, Samuela; Ntaios, George; Adamou, Anastasia; Sagris, Dimitrios; Giannopoulos, Sotirios; Kosmidou, Maria; Ntais, Evangelos; Romoli, Michele; Pantoni, Leonardo; Rosa, Silvia; Bertora, Pierluigi; Chiti, Alberto; Canavero, Isabella; Emanuele Saggese, Carlo; Plocco, Maurizio; Giorli, Elisa; Palaiodimou, Lina; Bakola, Eleni; Bandini, Fabio; Gasparro, Antonio; Terruso, Valeria; Mannino, Marina; Pezzini, Alessandro; Ornello, Raffaele; Sacco, Simona; Popovic, Nemanja; Scoditti, Umberto; Genovese, Antonio; Flomin, Yuriy; Mancuso, Michelangelo; D'Agliano, Roberto; Baldini, Marco; Ulivi, Leonardo; Giannini, Nicola; Vadikolias, Kostantinos; Liantinioti, Chrysoula; Chondrogianni, Maria; Halvatsiotis, Panagiotis; Karagkiozi, Efstathia; Athanasakis, George; Makaritsis, Kostantinos; Lanari, Alessia; Tatlisumak, Turgut; Acciarresi, Monica; Lorenzini, Gianni; Tassi, Rossana; Guideri, Francesca; Acampa, Maurizio; Martini, Giuseppe; Sohn, Sung-Il; Mumoli, Nicola; Carrara, Davide; Maccarrone, Miriam; Galati, Franco; Gourbali, Vanessa; Orlandi, Giovanni; Giuntini, Martina; Corea, Francesco; Bellesini, Marta; Karapanayiotides, Theodore; Csiba, Laszló; Szabó, Lilla; Imberti, Davide; Pieroni, Alessio; Barlinn, Kristian; Pallesen, Lars-Peder; Barlinn, Jessica; Doronin, Boris; Volodina, Vera; Agnelli, Giancarlo; Deleu, Dirk; Bonetti, Bruno; Gentile, Luana; Reale, Giuseppe; Caliandro, Pietro; Morotti, Andrea; Vannucchi, Vieri; Padroni, Marina; Letteri, Federica; Magoni, Mauro; Tiseo, Cindy; Rigatelli, Alberto; Zauli, Aurelia; Bossi, Francesco; Paciaroni, Maurizio; Caso, Valeria
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey
2025-01-01 Mancuso, Michelangelo; Colitta, Alessandro; Lavorato, Manuela; Van den Bergh, Peter; Kirschner, Janbernd; Kornblum, Cornelia; Maggi, Lorenzo; Lamy, Francois; Lochmüller, Hanns; Nordstrøm, Marianne; Malfatti, Edoardo; Ferlini, Alessandra; Pareyson, Davide; Silani, Vincenzo; Kleopa, Kleopas A; de Visser, Marianne; Atalaia, Antonio; Evangelista, Teresinha
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024-01-01 Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina
Disease registries and rare disorders: The virtuous example of mitochondrial medicine
2024-01-01 Orsucci, Daniele; Caldarazzo Ienco, Elena; Lopriore, Piervito; Mancuso, Michelangelo
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021
2024-01-01 Schirinzi, Erika; Null, Null; Bochicchio, Mario Alessandro; Lochmüller, Hanns; Vissing, John; Jordie-Diaz-Manerae, Null; Evangelista, Teresinha; Plançon, Jean-Philippe; Fanucci, Luca; Marini, Marco; Tonacci, Alessandro; Mancuso, Michelangelo; Segovia-Kueny, Sandrine; Toscano, Antonio; Angelini, Corrado; Schoser, Benedikt; Sacconi, Sabrina; Siciliano, Gabriele
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
2024-01-01 Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A C; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, François; Plançon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G J; de Visser, Marianne; Claeys, Kristl G; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D; Lochmuller, Hanns; Evangelista, Teresinha
Gene-Gene Interaction Between Factor- XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study
2024-01-01 Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Triquenot, Aude B.; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M.; Worrall, Bradford B.; Majersik, Jennifer J.; Putaala, Jukka; Haapaniemi, Elena; Zuurbier, Susanna; Brouwer, Matthijs C.; Passamonti, Serena M.; Abbattista, Maria; Bucciarelli, Paolo; Lemmens, Robin; Pappalardo, Emanuela; Costa, Paolo; Colombi, Marina; De Sousa, Diana Aguiar; Rodrigues, Sofia G.; Canhao, Patrícia; Tkach, Aleksander; Santacroce, Rosa; Favuzzi, Giovanni; Arauz, Antonio; Colaizzo, Donatella; Spengos, Konstantinos; Hodge, Amanda; Ditta, Reina; Pezzini, Alessandro; Coutinho, Jonathan M.; Thijs, Vincent N.; Jood, Katarina; Pare, Guillaume; Tatlisumak, Turgut; Ferro, José M.; Sharma, Pankaj
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
2024-01-01 Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelangelo
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group
2024-01-01 Mancuso, Michelangelo; Papadopoulou, Maria T; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N; O'Callaghan, Mar; Pressler, Ronit M; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Gráinne S; Cross, J Helen; Rahman, Shamima
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Diagnosis and Management of Mitochondrial Disorder | In corso di stampa | Mancuso, M | |
| Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis | In corso di stampa | Lopriore, P; Palermo, G; Meli, A; Bellini, G; Benevento, E; Montano, V; Siciliano, G; Mancuso, M; Ceravolo, R | |
| 280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024 | 1-gen-2025 | Mancuso, Michelangelo; Lopriore, Piervito; Semmler, Luisa; Kornblum, Cornelia | |
| An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype | 1-gen-2025 | Lopriore, Piervito; Legati, Andrea; Neuhofer, Christiane Michaela; Gerfo, Annalisa Lo; Kopajtich, Robert; Barresi, Marco; Cecchi, Giulia; Pavlov, Martin; Izzo, Rossella; Montano, Vincenzo; Caligo, Maria Adelaide; Berutti, Riccardo; Mancuso, Michelangelo; Prokisch, Holger; Ghezzi, Daniele | |
| Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey | 1-gen-2025 | Jang, Dae-Gyu; Federico, Antonio; Savelieff, Masha G.; Grisold, Wolfgang; Mancuso, Michelangelo; Molnar, Maria J.; Feldman, Eva L.; Reynolds, Evan L. | |
| Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey | 1-gen-2025 | Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; Mcfarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap | |
| Diagnosis of hereditary ataxias: a real-world single center experience | 1-gen-2025 | Meli, Adriana; Montano, Vincenzo; Palermo, Giovanni; Fogli, Antonella; Rocchi, Anna; Gerfo, Annalisa Lo; Maltomini, Rossella; Cori, Ludovica; Siniscalchi, Antonio; Bernardini, Clara; Cecchi, Giulia; Siciliano, Gabriele; Ceravolo, Roberto; Caligo, Maria Adelaide; Mancuso, Michelangelo; Lopriore, Piervito | |
| Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy | 1-gen-2025 | Lopriore, Piervito; Migaleddu, Gianmichele; Tsai, Pei-Chien; Fogli, Antonella; Caligo, Maria Adelaide; Siciliano, Gabriele; Cosottini, Mirco; Lee, Yi-Chung; Liao, Yi-Chu; Mancuso, Michelangelo; Ceravolo, Roberto; Frosini, Daniela | |
| Multidisciplinary consensus on the diagnosis and management of patients with atypical Hemolytic Uremic Syndrome (complement-mediated TMA): Recommendations from Italian scientific societies, patient associations and regulators | 1-gen-2025 | Stea, Emma Diletta; Pugliano, Mariateresa; Gualtierotti, Roberta; Mazzucato, Monica; Santangelo, Luisa; Annicchiarico, Giuseppina; Berardelli, Alfredo; Bianchi, Stefano; Bogliolo, Laura; Chiandotto, Paolo; Cirino, Giuseppe; De Iaco, Fabio; De Rosa, Silvia; Dentali, Francesco; Facchin, Paola; Favalli, Ennio ; Giulio, ; Fiorin, Francesco; Giarratano, Antonino; Laterza, Claudia; Macrì, Francesco; Mancuso, Michelangelo; Padovani, Alessandro; Pasini, Andrea; Scopinaro, Annalisa Maddalena; Sebastiani, Gian Domenico; Sesti, Giorgio; Susi, Beniamino; Torsello, Antonio; Vezzoni, Cinzia; Zanlari, Luca; Gesualdo, Loreto; De Luca, Annamaria | |
| Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 | 1-gen-2025 | Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina | |
| PHEMI—Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open–Label Trial | 1-gen-2025 | Marchet, Silvia; Catania, Alessia; Ardissone, Anna; Montano, Vincenzo; Einvag, Krisztina; Iermito, Maria Pia; Sala, Daniele; Spagnolo, Manuela; Mauro, Elena; Lamantea, Eleonora; Cecchi, Giulia; Lopriore, Piervito; Mancuso, Michelangelo; Lamperti, Costanza | |
| Statin therapy in ischemic stroke patients with atrial fibrillation: Efficacy and safety outcomes | 1-gen-2025 | Marvardi, Michele; Paciaroni, Maurizio; Caso, Valeria; Marvardi, Michele; Ferrante, Mario; Abdul-Rahim, Azmil; Georgios Tsivgoulis, Md; Julian Seiffge, David; Engelter, Stefan T.; Lyrer, Philippe; Polymeris, Alexandros A.; Dittrich, Tolga; Cancelloni, Virginia; Zietz, Annaelle; Marco De Marchis, Gian; Putaala, Jukka; Strbian, Daniel; Tomppo, Liisa; Michel, Patrik; Strambo, Davide; Salerno, Alexander; Vanacker, Peter; Zuurbier, Susanna; Yperzeele, Laetitia; Loos, Caroline M. J.; Cappellari, Manuel; Emiliani, Andrea; Zedde, Marialuisa; Becattini, Cecilia; Pascarella, Rosario; Dawson, Jesse; Cronshaw, Robert; Schirinzi, Erika; Del Sette, Massimo; Stretz, Christoph; Kala, Narendra; Schomer, Ashley; Mac Grory, Brian; Jayaraman, Mahesh; Yaghi, Shadi; Furie, Karen L.; Masotti, Luca; Grifoni, Elisa; Toni, Danilo; Risitano, Angela; Falcou, Anne; Petraglia, Luca; Maria Lotti, Enrico; Pavolucci, Lucia; Lochner, Piergiorgio; Silvestrelli, Giorgio; Ciccone, Alfonso; Alberti, Andrea; Venti, Michele; Leone De Magistris, Ilaria; Giulia Mosconi, Maria; Giustozzi, Michela; Kargiotis, Odysseas; Rocco, Alessandro; Diomedi, Marina; Marcheselli, Simona; Antonenko, Kateryna; Rota, Eugenia; Tassinari, Tiziana; Saia, Valentina; Palmerini, Francesco; Aridon, Paolo; Arnao, Valentina; Monaco, Serena; Cottone, Salvatore; Baldi, Antonio; D'Amore, Cataldo; Ageno, Walter; Pegoraro, Samuela; Ntaios, George; Adamou, Anastasia; Sagris, Dimitrios; Giannopoulos, Sotirios; Kosmidou, Maria; Ntais, Evangelos; Romoli, Michele; Pantoni, Leonardo; Rosa, Silvia; Bertora, Pierluigi; Chiti, Alberto; Canavero, Isabella; Emanuele Saggese, Carlo; Plocco, Maurizio; Giorli, Elisa; Palaiodimou, Lina; Bakola, Eleni; Bandini, Fabio; Gasparro, Antonio; Terruso, Valeria; Mannino, Marina; Pezzini, Alessandro; Ornello, Raffaele; Sacco, Simona; Popovic, Nemanja; Scoditti, Umberto; Genovese, Antonio; Flomin, Yuriy; Mancuso, Michelangelo; D'Agliano, Roberto; Baldini, Marco; Ulivi, Leonardo; Giannini, Nicola; Vadikolias, Kostantinos; Liantinioti, Chrysoula; Chondrogianni, Maria; Halvatsiotis, Panagiotis; Karagkiozi, Efstathia; Athanasakis, George; Makaritsis, Kostantinos; Lanari, Alessia; Tatlisumak, Turgut; Acciarresi, Monica; Lorenzini, Gianni; Tassi, Rossana; Guideri, Francesca; Acampa, Maurizio; Martini, Giuseppe; Sohn, Sung-Il; Mumoli, Nicola; Carrara, Davide; Maccarrone, Miriam; Galati, Franco; Gourbali, Vanessa; Orlandi, Giovanni; Giuntini, Martina; Corea, Francesco; Bellesini, Marta; Karapanayiotides, Theodore; Csiba, Laszló; Szabó, Lilla; Imberti, Davide; Pieroni, Alessio; Barlinn, Kristian; Pallesen, Lars-Peder; Barlinn, Jessica; Doronin, Boris; Volodina, Vera; Agnelli, Giancarlo; Deleu, Dirk; Bonetti, Bruno; Gentile, Luana; Reale, Giuseppe; Caliandro, Pietro; Morotti, Andrea; Vannucchi, Vieri; Padroni, Marina; Letteri, Federica; Magoni, Mauro; Tiseo, Cindy; Rigatelli, Alberto; Zauli, Aurelia; Bossi, Francesco; Paciaroni, Maurizio; Caso, Valeria | |
| The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey | 1-gen-2025 | Mancuso, Michelangelo; Colitta, Alessandro; Lavorato, Manuela; Van den Bergh, Peter; Kirschner, Janbernd; Kornblum, Cornelia; Maggi, Lorenzo; Lamy, Francois; Lochmüller, Hanns; Nordstrøm, Marianne; Malfatti, Edoardo; Ferlini, Alessandra; Pareyson, Davide; Silani, Vincenzo; Kleopa, Kleopas A; de Visser, Marianne; Atalaia, Antonio; Evangelista, Teresinha | |
| Deoxyguanosine kinase deficiency: natural history and liver transplant outcome | 1-gen-2024 | Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Barić, Ivo; Petkovic Ramadza, Danijela; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, René; Servidei, Serenella; Bris, Céline; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cécile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina | |
| Disease registries and rare disorders: The virtuous example of mitochondrial medicine | 1-gen-2024 | Orsucci, Daniele; Caldarazzo Ienco, Elena; Lopriore, Piervito; Mancuso, Michelangelo | |
| E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021 | 1-gen-2024 | Schirinzi, Erika; Null, Null; Bochicchio, Mario Alessandro; Lochmüller, Hanns; Vissing, John; Jordie-Diaz-Manerae, Null; Evangelista, Teresinha; Plançon, Jean-Philippe; Fanucci, Luca; Marini, Marco; Tonacci, Alessandro; Mancuso, Michelangelo; Segovia-Kueny, Sandrine; Toscano, Antonio; Angelini, Corrado; Schoser, Benedikt; Sacconi, Sabrina; Siciliano, Gabriele | |
| EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders | 1-gen-2024 | Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A C; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, François; Plançon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G J; de Visser, Marianne; Claeys, Kristl G; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D; Lochmuller, Hanns; Evangelista, Teresinha | |
| Gene-Gene Interaction Between Factor- XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study | 1-gen-2024 | Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Triquenot, Aude B.; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M.; Worrall, Bradford B.; Majersik, Jennifer J.; Putaala, Jukka; Haapaniemi, Elena; Zuurbier, Susanna; Brouwer, Matthijs C.; Passamonti, Serena M.; Abbattista, Maria; Bucciarelli, Paolo; Lemmens, Robin; Pappalardo, Emanuela; Costa, Paolo; Colombi, Marina; De Sousa, Diana Aguiar; Rodrigues, Sofia G.; Canhao, Patrícia; Tkach, Aleksander; Santacroce, Rosa; Favuzzi, Giovanni; Arauz, Antonio; Colaizzo, Donatella; Spengos, Konstantinos; Hodge, Amanda; Ditta, Reina; Pezzini, Alessandro; Coutinho, Jonathan M.; Thijs, Vincent N.; Jood, Katarina; Pare, Guillaume; Tatlisumak, Turgut; Ferro, José M.; Sharma, Pankaj | |
| Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial | 1-gen-2024 | Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Gráinne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelangelo | |
| Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group | 1-gen-2024 | Mancuso, Michelangelo; Papadopoulou, Maria T; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N; O'Callaghan, Mar; Pressler, Ronit M; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Gráinne S; Cross, J Helen; Rahman, Shamima |