Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
Zhou, Jie, Tawk, Marcel, Tiziano, Francesco Danilo, Veillet, Julien, Bayes, Monica, Nolent, Flora, Garcia, Virginie, Servidei, Serenella, Bertini, Enrico, Castro-Giner, Francesc, Renda, Yavuz, Carpentier, Stéphane, Andrieu-Abadie, Nathalie, Gut, Ivo, Levade, Thierry, Topaloglu, Haluk, Melki, Judith
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Journal Article
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, Danilo Tiziano, Francesco, Giraldi, Luca, Amore, Rosarita, Arzani, Dario, Abiusi, Emanuela, Ahrens, Wolfgang, Vilches, Laia Alemany, 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
Published in Cancer epidemiology, biomarkers & prevention (05.12.2022)
Published in Cancer epidemiology, biomarkers & prevention (05.12.2022)
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Sustainable method for Alzheimer dementia prediction in mild cognitive impairment: Electroencephalographic connectivity and graph theory combined with apolipoprotein E
Vecchio, Fabrizio, Miraglia, Francesca, Iberite, Francesco, Lacidogna, Giordano, Guglielmi, Valeria, Marra, Camillo, Pasqualetti, Patrizio, Tiziano, Francesco Danilo, Rossini, Paolo Maria
Published in Annals of neurology (01.08.2018)
Published in Annals of neurology (01.08.2018)
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Journal Article
White matter and cerebellar involvement in alternating hemiplegia of childhood
Severino, Mariasavina, Pisciotta, Livia, Tortora, Domenico, Toselli, Benedetta, Stagnaro, Michela, Cordani, Ramona, Morana, Giovanni, Zicca, Anna, Kotzeva, Svetlana, Zanaboni, Clelia, Montobbio, Giovanni, Rossi, Andrea, De Grandis, Elisa
Published in Journal of neurology (01.05.2020)
Published in Journal of neurology (01.05.2020)
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Journal Article
Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients
Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D’Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Gianluca, Tiziano, Francesco Danilo, Mercuri, Eugenio
Published in Annals of clinical and translational neurology (01.03.2021)
Published in Annals of clinical and translational neurology (01.03.2021)
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Journal Article
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients
Cordani, Ramona, Stagnaro, Michela, Pisciotta, Livia, Tiziano, Francesco Danilo, Calevo, Maria Grazia, Nobili, Lino, De Grandis, Elisa
Published in Frontiers in neurology (08.04.2021)
Published in Frontiers in neurology (08.04.2021)
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Journal Article
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
Abiusi, Emanuela, Infante, Paola, Cagnoli, Cinzia, Lospinoso Severini, Ludovica, Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, D'Amico, Adele, Diano, Federica, Novelli, Agnese, Spartano, Serena, Fiori, Stefania, Baranello, Giovanni, Moroni, Isabella, Mora, Marina, Pasanisi, Maria Barbara, Pocino, Krizia, Le Pera, Loredana, D'Amico, Davide, Travaglini, Lorena, Ria, Francesco, Bruno, Claudio, Locatelli, Denise, Bertini, Enrico Silvio, Morandi, Lucia Ovidia, Mercuri, Eugenio, Di Marcotullio, Lucia, Tiziano, Francesco Danilo
Published in eLife (20.09.2021)
Published in eLife (20.09.2021)
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Journal Article
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report
Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio
Published in BMC cardiovascular disorders (05.04.2020)
Published in BMC cardiovascular disorders (05.04.2020)
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Journal Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
DANILO TIZIANO, Francesco, PINTO, Anna Maria, BERTINI, Enrico, MERCURI, Eugenio, NERI, Giovanni, BRAHE, Christina, FIORI, Stefania, LOMASTRO, Rosa, MESSINA, Sonia, BRUNO, Claudio, PINI, Antonella, PANE, Marika, D'AMICO, Adele, GHEZZO, Alessandro
Published in European journal of human genetics : EJHG (01.01.2010)
Published in European journal of human genetics : EJHG (01.01.2010)
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Journal Article
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, Tizzano, Eduardo F., Abiusi, Dr Emanuela, Baranello, Dr Giovanni, Bertini, Prof. Enrico, Boemer, Dr François, Burghes, Prof. Arthur, Codina-Solà, Dr Marta, Costa-Roger, Dr Mar, Dangouloff, Dr Tamara, Groen, Dr Ewout, Gos, Dr Monika, Jędrzejowska, Dr Maria, Kirschner, Prof. Janbernd, Lemmink, Dr Henny H, Müller-Felber, Prof. Wolfgang, Ouillade, Ms Marie-Christine, Quijano-Roy, Prof. Susana, Rucinski, Mr Kacper, Saugier-Veber, Dr Pascale, Tiziano, Prof. Francesco Danilo, Tizzano, Prof. Eduardo Fidel, Wirth, Prof. Brunhilde
Published in Neuromuscular disorders : NMD (01.01.2024)
Published in Neuromuscular disorders : NMD (01.01.2024)
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Journal Article
Conference Proceeding
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death
Tiziano, Francesco Danilo, Palmieri, Vincenzo, Genuardi, Maurizio, Zeppilli, Paolo
Published in Frontiers in cardiovascular medicine (26.08.2016)
Published in Frontiers in cardiovascular medicine (26.08.2016)
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Journal Article
The complex interaction between APOE promoter and AD: an Italian case-control study
BIZZARRO, Alessandra, SERIPA, Davide, ACCIARRI, Adele, GIOVANNA MATERA, Maria, PILOTTO, Alberto, DANILO TIZIANO, Francesco, BRAHE, Christina, MASULLO, Carlo
Published in European journal of human genetics : EJHG (01.07.2009)
Published in European journal of human genetics : EJHG (01.07.2009)
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Journal Article
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Muntoni, Francesco, Wirth, Brunhilde, Tiziano, Francesco Danilo, Kirschner, Janbernd, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Montes, Jacqueline, Mazzone, Elena, Main, Marion, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Dubousset, Jean, Farrington, David, Flynn, Jack, Halanski, Matthew, Hasler, Carol, Miladi, Lotfi, Reilly, Christopher, Roye, Benjamin, Sponseller, Paul, Yazici, Muharrem, Hurst, Rebecca, Bertini, Enrico, Tarrant, Stacey, Barja, Salesa, Bertoli, Simona, Crawford, Thomas, Foust, Kevin, Kyle, Barbara, Rodan, Lance, Roper, Helen, Seffrood, Erin, Swoboda, Kathryn, Szlagatys-Sidorkiewicz, Agnieszka
Published in Neuromuscular disorders : NMD (01.02.2018)
Published in Neuromuscular disorders : NMD (01.02.2018)
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Journal Article
Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data
Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, de Sanctis, Roberto, Lucibello, Simona, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio
Published in Annals of neurology (01.09.2019)
Published in Annals of neurology (01.09.2019)
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Journal Article
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series
Sottani, Costanza, Di Lazzaro, Giulia, Calabresi, Paolo, Pomponi, Maria Grazia, Tiziano, Francesco Danilo, Bentivoglio, Anna Rita, Servidei, Serenella, Vollono, Catello
Published in Headache (30.09.2024)
Published in Headache (30.09.2024)
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Journal Article
MicroRNAs expression profiles as diagnostic biomarkers of gastric cancer: a systematic literature review
Stojanovic, Jovana, Tognetto, Alessia, Tiziano, Danilo Francesco, Leoncini, Emanuele, Posteraro, Brunella, Pastorino, Roberta, Boccia, Stefania
Published in Biomarkers (17.02.2019)
Published in Biomarkers (17.02.2019)
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Journal Article
A current approach to heart failure in Duchenne muscular dystrophy
D’Amario, Domenico, Amodeo, Antonio, Adorisio, Rachele, Tiziano, Francesco Danilo, Leone, Antonio Maria, Perri, Gianluigi, Bruno, Piergiorgio, Massetti, Massimo, Ferlini, Alessandra, Pane, Marika, Niccoli, Giampaolo, Porto, Italo, D’Angelo, Gianluca A, Borovac, Josip Anđelo, Mercuri, Eugenio, Crea, Filippo
Published in Heart (British Cardiac Society) (01.11.2017)
Published in Heart (British Cardiac Society) (01.11.2017)
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Journal Article
Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy
Narducci, Maria Lucia, Scacciavillani, Roberto, Nano, Roberta Lo, Bisignani, Antonio, D'Alessandris, Nicoletta, Inzani, Frediano, Tiziano, Francesco Danilo, Perna, Francesco, Bencardino, Gianluigi, Burzotta, Francesco, Pelargonio, Gemma, Imazio, Massimo
Published in International journal of cardiology (01.12.2024)
Published in International journal of cardiology (01.12.2024)
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Journal Article
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function
Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio
Published in Neuromuscular disorders : NMD (01.07.2018)
Published in Neuromuscular disorders : NMD (01.07.2018)
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