Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 von 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

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Plasma miR-151-3p as a Candidate Diagnostic Biomarker for Head and Neck Cancer: A Cross-sectional Study within the INHANCE Consortium von 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

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Sustainable method for Alzheimer dementia prediction in mild cognitive impairment: Electroencephalographic connectivity and graph theory combined with apolipoprotein E von Vecchio, Fabrizio, Miraglia, Francesca, Iberite, Francesco, Lacidogna, Giordano, Guglielmi, Valeria, Marra, Camillo, Pasqualetti, Patrizio, Tiziano, Francesco Danilo, Rossini, Paolo Maria

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Structural and functional alterations of neurons derived from sporadic Alzheimer's disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis von Sollazzo, Raimondo, Li Puma, Domenica Donatella, Aceto, Giuseppe, Paciello, Fabiola, Colussi, Claudia, Vita, Maria Gabriella, Giuffrè, Guido Maria, Pastore, Francesco, Casamassa, Alessia, Rosati, Jessica, Novelli, Agnese, Maietta, Sabrina, Tiziano, Francesco Danilo, Marra, Camillo, Ripoli, Cristian, Grassi, Claudio

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White matter and cerebellar involvement in alternating hemiplegia of childhood von 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

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Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients von 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

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SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples von 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

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Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients von Cordani, Ramona, Stagnaro, Michela, Pisciotta, Livia, Tiziano, Francesco Danilo, Calevo, Maria Grazia, Nobili, Lino, De Grandis, Elisa

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270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands von 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

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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report von Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio

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SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR von Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio, Neri, Giovanni, Brahe, Christina

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The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death von Tiziano, Francesco Danilo, Palmieri, Vincenzo, Genuardi, Maurizio, Zeppilli, Paolo

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The complex interaction between APOE promoter and AD: an Italian case–control study von Bizzarro, Alessandra, Seripa, Davide, Acciarri, Adele, Matera, Maria Giovanna, Pilotto, Alberto, Tiziano, Francesco Danilo, Brahe, Christina, Masullo, Carlo

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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care von 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

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Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data von 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

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Efficacy of galcanezumab in proline‐rich transmembrane protein 2 (PRRT2)‐associated familial hemiplegic migraine: A case series von Sottani, Costanza, Di Lazzaro, Giulia, Calabresi, Paolo, Pomponi, Maria Grazia, Tiziano, Francesco Danilo, Bentivoglio, Anna Rita, Servidei, Serenella, Vollono, Catello

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Prognostic value of electroanatomic-guided endomyocardial biopsy in patients with myocarditis, arrhythmogenic cardiomyopathy and non dilated left ventricular cardiomyopathy von 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

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A current approach to heart failure in Duchenne muscular dystrophy von 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

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Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening von Pane, Marika, Donati, Maria Alice, Cutrona, Costanza, De Sanctis, Roberto, Pirinu, Matteo, Coratti, Giorgia, Ricci, Martina, Palermo, Concetta, Berti, Beatrice, Leone, Daniela, Ticci, Chiara, Sacchini, Michele, Cerboneschi, Margherita, Capasso, Anna, Cicala, Gianpaolo, Pera, Maria Carmela, Bravetti, Chiara, Abiusi, Emanuela, Vaisfeld, Alessandro, Vento, Giovanni, Tiziano, Francesco Danilo, Mercuri, Eugenio

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Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function von 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

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