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Practical approach to respiratory emergencies in neurological diseases
Practical approach to respiratory emergencies in neurological diseases
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Practical approach to respiratory emergencies in neurological diseases

Racca, Fabrizio ; Vianello, Andrea ; Mongini, Tiziana ; Ruggeri, Paolo ; Versaci, Antonio ; Vita, Gian Luca ; Vita, Giuseppe

Neurological sciences, 2020-03, Vol.41 (3), p.497-508 [Periódico revisado por pares]

Cham: Springer International Publishing

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2
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Maggi, Lorenzo ; Bello, Luca ; Bonanno, Silvia ; Govoni, Alessandra ; Caponnetto, Claudia ; Passamano, Luigia ; Grandis, Marina ; Trojsi, Francesca ; Cerri, Federica ; Ferraro, Manfredi ; Bozzoni, Virginia ; Caumo, Luca ; Piras, Rachele ; Tanel, Raffaella ; Saccani, Elena ; Meneri, Megi ; Vacchiano, Veria ; Ricci, Giulia ; Soraru', Gianni ; D'Errico, Eustachio ; Tramacere, Irene ; Bortolani, Sara ; Pavesi, Giovanni ; Zanin, Riccardo ; Silvestrini, Mauro ; Politano, Luisa ; Schenone, Angelo ; Previtali, Stefano Carlo ; Berardinelli, Angela ; Turri, Mara ; Verriello, Lorenzo ; Coccia, Michela ; Mantegazza, Renato ; Liguori, Rocco ; Filosto, Massimiliano ; Marrosu, Gianni ; Siciliano, Gabriele ; Simone, Isabella Laura ; Mongini, Tiziana ; Comi, Giacomo ; Pegoraro, Elena

Journal of neurology, neurosurgery and psychiatry, 2020-11, Vol.91 (11), p.1166-1174 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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3
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

Guglieri, Michela ; Bushby, Kate ; McDermott, Michael P ; Hart, Kimberly A ; Tawil, Rabi ; Martens, William B ; Herr, Barbara E ; McColl, Elaine ; Speed, Chris ; Wilkinson, Jennifer ; Kirschner, Janbernd ; King, Wendy M ; Eagle, Michelle ; Brown, Mary W ; Willis, Tracey ; Griggs, Robert C ; Straub, Volker ; van Ruiten, Henriette ; Childs, Anne-Marie ; Ciafaloni, Emma ; Shieh, Perry B ; Spinty, Stefan ; Maggi, Lorenzo ; Baranello, Giovanni ; Butterfield, Russell J ; Horrocks, I. A ; Roper, Helen ; Alhaswani, Zoya ; Flanigan, Kevin M ; Kuntz, Nancy L ; Manzur, Adnan ; Darras, Basil T ; Kang, Peter B ; Morrison, Leslie ; Krzesniak-Swinarska, Monika ; Mah, Jean K ; Mongini, Tiziana E ; Ricci, Federica ; von der Hagen, Maja ; Finkel, Richard S ; O’Reardon, Kathleen ; Wicklund, Matthew ; Kumar, Ashutosh ; McDonald, Craig M ; Han, Jay J ; Joyce, Nanette ; Henricson, Erik K ; Schara-Schmidt, Ulrike ; Gangfuss, Andrea ; Wilichowski, Ekkehard ; Barohn, Richard J ; Statland, Jeffrey M ; Campbell, Craig ; Vita, Giuseppe ; Vita, Gian Luca ; Howard, James F ; Hughes, Imelda ; McMillan, Hugh J ; Pegoraro, Elena ; Bello, Luca ; Burnette, W. Bryan ; Thangarajh, Mathula ; Chang, Taeun

JAMA : the journal of the American Medical Association, 2022-04, Vol.327 (15), p.1456-1468 [Periódico revisado por pares]

United States: American Medical Association

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4
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade
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Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade

Gadaleta, Giulio ; Urbano, Guido ; Brusa, Chiara ; D'Alessandro, Rossella ; Rolle, Enrica ; Cavallina, Ilaria ; Mattei, Alessio ; Ribolla, Fulvia ; Raineri, Claudia ; Pidello, Stefano ; Vercelli, Liliana ; Ricci, Federica S. ; Mongini, Tiziana E.

European journal of neurology, 2024-01, Vol.31 (1), p.e16060-n/a [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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5
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Ricci, Giulia ; Mele, Fabiano ; Govi, Monica ; Ruggiero, Lucia ; Sera, Francesco ; Vercelli, Liliana ; Bettio, Cinzia ; Santoro, Lucio ; Mongini, Tiziana ; Villa, Luisa ; Moggio, Maurizio ; Filosto, Massimiliano ; Scarlato, Marina ; Previtali, Stefano C ; Tripodi, Silvia Maria ; Pegoraro, Elena ; Telese, Roberta ; Di Muzio, Antonio ; Rodolico, Carmelo ; Bucci, Elisabetta ; Antonini, Giovanni ; D'Angelo, Maria Grazia ; Berardinelli, Angela ; Maggi, Lorenzo ; Piras, Rachele ; Maioli, Maria Antonietta ; Siciliano, Gabriele ; Tomelleri, Giuliano ; Angelini, Corrado ; Tupler, Rossella

Scientific reports, 2020-12, Vol.10 (1), p.21648-12, Article 21648 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1
Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1
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Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1

Ricci, Federica S. ; Vacchetti, Martina ; Brusa, Chiara ; D'Alessandro, Rossella ; La Rosa, Paola ; Martone, Gianluca ; Davico, Chiara ; Vitiello, Benedetto ; Mongini, Tiziana E.

European journal of paediatric neurology, 2022-07, Vol.39, p.59-64 [Periódico revisado por pares]

England: Elsevier Ltd

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7
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing
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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

Marinella, Gemma ; Astrea, Guja ; Buchignani, Bianca ; Cassandrini, Denise ; Doccini, Stefano ; Filosto, Massimiliano ; Galatolo, Daniele ; Gallone, Salvatore ; Giannini, Fabio ; Lopergolo, Diego ; Maioli, Maria Antonietta ; Magri, Francesca ; Malandrini, Alessandro ; Mandich, Paola ; Mari, Francesco ; Massa, Roberto ; Mata, Sabrina ; Melani, Federico ; Moggio, Maurizio ; Mongini, Tiziana E ; Pasquariello, Rosa ; Pegoraro, Elena ; Ricci, Federica ; Ricci, Giulia ; Rodolico, Carmelo ; Rubegni, Anna ; Siciliano, Gabriele ; Sperti, Martina ; Ticci, Chiara ; Tonin, Paola ; Santorelli, Filippo M ; Battini, Roberta

International journal of molecular sciences, 2022-11, Vol.23 (23), p.14567 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation
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Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Mancuso, Michelangelo ; Orsucci, Daniele ; Angelini, Corrado ; Bertini, Enrico ; Carelli, Valerio ; Comi, Giacomo Pietro ; Minetti, Carlo ; Moggio, Maurizio ; Mongini, Tiziana ; Servidei, Serenella ; Tonin, Paola ; Toscano, Antonio ; Uziel, Graziella ; Bruno, Claudio ; Caldarazzo Ienco, Elena ; Filosto, Massimiliano ; Lamperti, Costanza ; Martinelli, Diego ; Moroni, Isabella ; Musumeci, Olimpia ; Pegoraro, Elena ; Ronchi, Dario ; Santorelli, Filippo Maria ; Sauchelli, Donato ; Scarpelli, Mauro ; Sciacco, Monica ; Spinazzi, Marco ; Valentino, Maria Lucia ; Vercelli, Liliana ; Zeviani, Massimo ; Siciliano, Gabriele

Neurology, 2013-05, Vol.80 (22), p.2049-2054 [Periódico revisado por pares]

Hagerstown, MD: American Academy of Neurology

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9
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy
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Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

Peretto, Giovanni ; Di Resta, Chiara ; Perversi, Jacopo ; Forleo, Cinzia ; Maggi, Lorenzo ; Politano, Luisa ; Barison, Andrea ; Previtali, Stefano C ; Carboni, Nicola ; Brun, Francesca ; Pegoraro, Elena ; D'Amico, Adele ; Rodolico, Carmelo ; Magri, Francesca ; Manzi, Rosa C ; Palladino, Alberto ; Isola, Franco ; Gigli, Lorenzo ; Mongini, Tiziana E ; Semplicini, Claudio ; Calore, Chiara ; Ricci, Giulia ; Comi, Giacomo P ; Ruggiero, Lucia ; Bertini, Enrico ; Bonomo, Paolo ; Nigro, Gerardo ; Resta, Nicoletta ; Emdin, Michele ; Favale, Stefano ; Siciliano, Gabriele ; Santoro, Lucio ; Sinagra, Gianfranco ; Limongelli, Giuseppe ; Ambrosi, Alessandro ; Ferrari, Maurizio ; Golzio, Pier G ; Bella, Paolo Della ; Benedetti, Sara ; Sala, Simone

Annals of internal medicine, 2019-10, Vol.171 (7), p.458-463 [Periódico revisado por pares]

United States: American College of Physicians

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10
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

Brogna, Claudia ; Coratti, Giorgia ; Pane, Marika ; Ricotti, Valeria ; Messina, Sonia ; D'Amico, Adele ; Bruno, Claudio ; Vita, Gianluca ; Berardinelli, Angela ; Mazzone, Elena ; Magri, Francesca ; Ricci, Federica ; Mongini, Tiziana ; Battini, Roberta ; Bello, Luca ; Pegoraro, Elena ; Baranello, Giovanni ; Previtali, Stefano C ; Politano, Luisa ; Comi, Giacomo P ; Sansone, Valeria A ; Donati, Alice ; Bertini, Enrico ; Muntoni, Francesco ; Goemans, Nathalie ; Mercuri, Eugenio Musaro, Antonio

PloS one, 2019-06, Vol.14 (6), p.e0218683-e0218683 [Periódico revisado por pares]

United States: Public Library of Science

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