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Psychosocial impact of sport activity in neuromuscular disorders.
Published in:
Neurological Sciences, 2020, v. 41, n. 9, p. 2561, doi. 10.1007/s10072-020-04345-1
By:
- Vita, Gian Luca;
- Stancanelli, Claudia;
- La Foresta, Stefania;
- Faraone, Cristina;
- Sframeli, Maria;
- Ferrero, Amanda;
- Fattore, Cinzia;
- Galbo, Rosy;
- Ferraro, Manfredi;
- Ricci, Giulia;
- Cotti Piccinelli, Stefano;
- Pizzighello, Silvia;
- Filosto, Massimiliano;
- Martinuzzi, Andrea;
- Padua, Luca;
- Trimarchi, Giuseppe;
- Siciliano, Gabriele;
- Mongini, Tiziana;
- Lombardo, Maria Elena;
- Berardinelli, Angela
Publication type:
Article
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach.
Published in:
2020
By:
- Iolascon, Giovanni;
- Vitacca, Michele;
- Carraro, Elena;
- Chisari, Carmelo;
- Fiore, Pietro;
- Messina, Sonia;
- Mongini, Tiziana;
- Moretti, Antimo;
- Sansone, Valeria A.;
- Toscano, Antonio;
- Siciliano, Gabriele;
- AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and SIMFER (Italian Society of Physical Medicine and Rehabilitation)
Publication type:
journal article
Practical approach to respiratory emergencies in neurological diseases.
Published in:
Neurological Sciences, 2020, v. 41, n. 3, p. 497, doi. 10.1007/s10072-019-04163-0
By:
- Racca, Fabrizio;
- Vianello, Andrea;
- Mongini, Tiziana;
- Ruggeri, Paolo;
- Versaci, Antonio;
- Vita, Gian Luca;
- Vita, Giuseppe
Publication type:
Article
Practical approach to respiratory emergencies in neurological diseases.
Published in:
2019
By:
- Racca, Fabrizio;
- Vianello, Andrea;
- Mongini, Tiziana;
- Ruggeri, Paolo;
- Versaci, Antonio;
- Vita, Gian Luca;
- Vita, Giuseppe
Publication type:
journal article
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.
Published in:
2013
By:
- Caroppo, Paola;
- D'Agata, Federico;
- Mignarri, Andrea;
- Stromillo, Maria;
- Dotti, Maria;
- Mongini, Tiziana
Publication type:
Letter
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
By:
- Fusto, Aurora;
- Cassandrini, Denise;
- Fiorillo, Chiara;
- Codemo, Valentina;
- Astrea, Guja;
- D'Amico, Adele;
- Maggi, Lorenzo;
- Magri, Francesca;
- Pane, Marika;
- Tasca, Giorgio;
- Sabbatini, Daniele;
- Bello, Luca;
- Battini, Roberta;
- Bernasconi, Pia;
- Fattori, Fabiana;
- Bertini, Enrico Silvio;
- Comi, Giacomo;
- Messina, Sonia;
- Mongini, Tiziana;
- Moroni, Isabella
Publication type:
Article
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
Published in:
Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
By:
- Musumeci, Olimpia;
- Barca, Emanuele;
- Lamperti, Costanza;
- Servidei, Serenella;
- Comi, Giacomo Pietro;
- Moggio, Maurizio;
- Mongini, Tiziana;
- Siciliano, Gabriele;
- Filosto, Massimiliano;
- Pegoraro, Elena;
- Primiano, Guido;
- Ronchi, Dario;
- Vercelli, Liliana;
- Orsucci, Daniele;
- Bello, Luca;
- Zeviani, Massimo;
- Mancuso, Michelangelo;
- Toscano, Antonio
Publication type:
Article
Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD).
Published in:
Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00880
By:
- Parisi, Daniela;
- Musumeci, Olimpia;
- Mondello, Stefania;
- Brizzi, Teresa;
- Oteri, Rosaria;
- Migliorato, Alba;
- Ciranni, Annamaria;
- Mongini, Tiziana E.;
- Rodolico, Carmelo;
- Vita, Giuseppe;
- Toscano, Antonio
Publication type:
Article
Genotype-phenotype correlation in Pompe disease, a step forward.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
By:
- De Filippi, Paola;
- Saeidi, Kolsoum;
- Ravaglia, Sabrina;
- Dardis, Andrea;
- Angelini, Corrado;
- Mongini, Tiziana;
- Morandi, Lucia;
- Moggio, Maurizio;
- Di Muzio, Antonio;
- Filosto, Massimiliano;
- Bembi, Bruno;
- Giannini, Fabio;
- Marrosu, Giovanni;
- Rigoldi, Miriam;
- Tonin, Paola;
- Servidei, Serenella;
- Siciliano, Gabriele;
- Carlucci, Annalisa;
- Scotti, Claudia;
- Comelli, Mario
Publication type:
Article
Genotype-phenotype correlation in Pompe disease, a step forward.
Published in:
2014
By:
- De Filippi, Paola;
- Saeidi, Kolsoum;
- Ravaglia, Sabrina;
- Dardis, Andrea;
- Angelini, Corrado;
- Mongini, Tiziana;
- Morandi, Lucia;
- Moggio, Maurizio;
- Di Muzio, Antonio;
- Filosto, Massimiliano;
- Bembi, Bruno;
- Giannini, Fabio;
- Marrosu, Giovanni;
- Rigoldi, Miriam;
- Tonin, Paola;
- Servidei, Serenella;
- Siciliano, Gabriele;
- Carlucci, Annalisa;
- Scotti, Claudia;
- Comelli, Mario
Publication type:
journal article
The empowerment of translational research: lessons from laminopathies.
Published in:
2012
By:
- Benedetti, Sara;
- Bernasconi, Pia;
- Bertini, Enrico;
- Biagini, Elena;
- Boriani, Giuseppe;
- Capanni, Cristina;
- Carboni, Nicola;
- Cenacchi, Giovanna;
- Columbaro, Marta;
- D'Adamo, Monica;
- D'Amico, Adele;
- D'Apice, Maria Rosaria;
- Fontana, Marianna;
- Gambineri, Alessandra;
- Lattanzi, Giovanna;
- Liguori, Rocco;
- Maraldi, Nadir M;
- Mazzanti, Laura;
- Mercuri, Eugenio;
- Mongini, Tiziana
Publication type:
Letter
The empowerment of translational research: lessons from laminopathies.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 37, doi. 10.1186/1750-1172-7-37
By:
- Benedetti, Sara;
- Bernasconi, Pia;
- Bertini, Enrico;
- Biagini, Elena;
- Boriani, Giuseppe;
- Capanni, Cristina;
- Carboni, Nicola;
- Cenacchi, Giovanna;
- Columbaro, Marta;
- D'Adamo, Monica;
- D'Amico, Adele;
- D'Apice, Maria Rosaria;
- Fontana, Marianna;
- Gambineri, Alessandra;
- Lattanzi, Giovanna;
- Liguori, Rocco;
- Maraldi, Nadir M.;
- Mazzanti, Laura;
- Mercuri, Eugenio;
- Mongini, Tiziana
Publication type:
Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
By:
- 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.
Publication type:
Article
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2023.1298473
By:
- Massucco, Sara;
- Schenone, Cristina;
- Faedo, Elena;
- Gemelli, Chiara;
- Bellone, Emilia;
- Marinelli, Lucio;
- Pareyson, Davide;
- Pisciotta, Chiara;
- Mongini, Tiziana;
- Schenone, Angelo;
- Grandis, Marina
Publication type:
Article
Hereditary motor sensory neuropathy with proximal involvement (HMSN‐P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture.
Published in:
Muscle & Nerve, 2024, v. 69, n. 6, p. 730, doi. 10.1002/mus.28088
By:
- Cabras, Sara;
- Di Pede, Francesca;
- Canosa, Antonio;
- Grassano, Maurizio;
- Mongini, Tiziana Enrica;
- Gadaleta, Giulio;
- Calvo, Andrea;
- Chiò, Adriano;
- Moglia, Cristina;
- Gallone, Salvatore
Publication type:
Article
Carrier detection of Duchenne muscular dystrophy through analysis of DNA from deciduous teeth of a dead affected child.
Published in:
1995
By:
- Restagno, Gabriella;
- Ferrone, Marina;
- Doriguzzi, Carlo;
- Palmucci, Laura;
- Mongini, Tiziana;
- Carbonara, Angelo;
- Restagno, G;
- Ferrone, M;
- Doriguzzi, C;
- Palmucci, L;
- Mongini, T;
- Carbonara, A
Publication type:
journal article
Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function.
Published in:
Audiology & Neurotology, 2008, v. 13, n. 1, p. 1, doi. 10.1159/000107431
By:
- Trevisan, Carlo P.;
- Pastorello, Ebe;
- Ermani, Mario;
- Angelini, Corrado;
- Tomelleri, Giuliano;
- Tonin, Paola;
- Mongini, Tiziana;
- Palmucci, Laura;
- Galluzzi, Giuliana;
- Tupler, Rossella G.;
- Marioni, Gino;
- Rimini, Alessandro
Publication type:
Article
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Published in:
Muscle & Nerve, 2022, v. 65, n. 1, p. 96, doi. 10.1002/mus.27448
By:
- Gemelli, Chiara;
- Traverso, Monica;
- Trevisan, Lucia;
- Fabbri, Sabrina;
- Scarsi, Elena;
- Carlini, Barbara;
- Prada, Valeria;
- Mongini, Tiziana;
- Ruggiero, Lucia;
- Patrone, Serena;
- Gallone, Salvatore;
- Iodice, Rosa;
- Pisciotta, Livia;
- Zara, Federico;
- Origone, Paola;
- Rota, Eugenia;
- Minetti, Carlo;
- Bruno, Claudio;
- Schenone, Angelo;
- Mandich, Paola
Publication type:
Article
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
Published in:
2017
By:
- Magri, Francesca;
- Nigro, Vincenzo;
- Angelini, Corrado;
- Mongini, Tiziana;
- Mora, Marina;
- Moroni, Isabella;
- Toscano, Antonio;
- D'angelo, Maria Grazia;
- Tomelleri, Giuliano;
- Siciliano, Gabriele;
- Ricci, Giulia;
- Bruno, Claudio;
- Corti, Stefania;
- Musumeci, Olimpia;
- Tasca, Giorgio;
- Ricci, Enzo;
- Monforte, Mauro;
- Sciacco, Monica;
- Fiorillo, Chiara;
- Gandossini, Sandra
Publication type:
journal article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
Published in:
Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
By:
- Angelini, Corrado;
- Semplicini, Claudio;
- Ravaglia, Sabrina;
- Moggio, Maurizio;
- Comi, Giacomo P.;
- Musumeci, Olimpia;
- Pegoraro, Elena;
- Tonin, Paola;
- Filosto, Massimiliano;
- Servidei, Serenella;
- Morandi, Lucia;
- Crescimanno, Grazia;
- Marrosu, Giovanni;
- Siciliano, Gabriele;
- Mongini, Tiziana;
- Toscano, ANTONIO
Publication type:
Article
Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome.
Published in:
Muscle & Nerve, 2007, v. 35, n. 4, p. 532, doi. 10.1002/mus.20716
By:
- Poglio, Fabio;
- Mongini, Tiziana;
- Cocito, Dario
Publication type:
Article
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures.
Published in:
BMC Neurology, 2012, v. 12, n. 1, p. 91, doi. 10.1186/1471-2377-12-91
By:
- Lerario, Alberto;
- Bonfiglio, Serena;
- Sormani, MariaPia;
- Tettamanti, Andrea;
- Marktel, Sarah;
- Napolitano, Sara;
- Previtali, Stefano;
- Scarlato, Marina;
- Natali-Sora, MariaGrazia;
- Mercuri, Eugenio;
- Bresolin, Nereo;
- Mongini, Tiziana;
- Comi, Giancarlo;
- Gatti, Roberto;
- Ciceri, Fabio;
- Cossu, Giulio;
- Torrente, Yvan
Publication type:
Article
Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4777, doi. 10.3390/jcm10204777
By:
- D'Alessandro, Rossella;
- Ragusa, Neftj;
- Vacchetti, Martina;
- Rolle, Enrica;
- Rossi, Francesca;
- Brusa, Chiara;
- Davico, Chiara;
- Vitiello, Benedetto;
- Mongini, Tiziana;
- Ricci, Federica S.
Publication type:
Article
Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review.
Published in:
Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 176, doi. 10.3390/brainsci12020176
By:
- Brusa, Chiara;
- Gadaleta, Giulio;
- D'Alessandro, Rossella;
- Urbano, Guido;
- Vacchetti, Martina;
- Davico, Chiara;
- Vitiello, Benedetto;
- Ricci, Federica S.;
- Mongini, Tiziana E.
Publication type:
Article
Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency.
Published in:
Lung, 2013, v. 191, n. 5, p. 537, doi. 10.1007/s00408-013-9489-x
By:
- Vianello, Andrea;
- Semplicini, Claudio;
- Paladini, Luciana;
- Concas, Alessandra;
- Ravaglia, Sabrina;
- Servidei, Serenella;
- Toscano, Antonio;
- Mongini, Tiziana;
- Angelini, Corrado;
- Pegoraro, Elena
Publication type:
Article
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Published in:
2019
By:
- 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
Publication type:
journal article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
By:
- Tiziano, Francesco D;
- Lomastro, Rosa;
- Di Pietro, Lorena;
- Barbara Pasanisi, Maria;
- Fiori, Stefania;
- Angelozzi, Carla;
- Abiusi, Emanuela;
- Angelini, Corrado;
- Sorarù, Gianni;
- Gaiani, Alessandra;
- Mongini, Tiziana;
- Vercelli, Liliana;
- Vasco, Gessica;
- Vita, Giuseppe;
- Luca Vita, Gian;
- Messina, Sonia;
- Politano, Luisa;
- Passamano, Luigia;
- Di Gregorio, Grazia;
- Montomoli, Cristina
Publication type:
Article
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Published in:
PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
By:
- Coratti, Giorgia;
- Pane, Marika;
- Brogna, Claudia;
- 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.
Publication type:
Article
Early higher dosage of alglucosidase alpha in classic Pompe disease.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336
By:
- Spada, Marco;
- Pagliardini, Veronica;
- Ricci, Federica;
- Biamino, Elisa;
- Mongini, Tiziana;
- Porta, Francesco
Publication type:
Article
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 3, doi. 10.1002/jmd2.12400
By:
- Ricci, Federica Silvia;
- Stanga, Serena;
- Mezzanotte, Mariarosa;
- Marinaccio, Cristina;
- D'Alessandro, Rossella;
- Somà, Alessandra;
- Sottemano, Stefano;
- Conio, Alessandra;
- Morana, Giovanni;
- Spada, Marco;
- Boido, Marina;
- Mongini, Tiziana E.
Publication type:
Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
Published in:
PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
By:
- Pane, Marika;
- Mazzone, Elena Stacy;
- Sivo, Serena;
- Fanelli, Lavinia;
- De Sanctis, Roberto;
- D'Amico, Adele;
- Messina, Sonia;
- Battini, Roberta;
- Bianco, Flaviana;
- Scutifero, Marianna;
- Petillo, Roberta;
- Frosini, Silvia;
- Scalise, Roberta;
- Vita, Gian Luca;
- Bruno, Claudio;
- Pedemonte, Marina;
- Mongini, Tiziana;
- Pegoraro, Elena;
- Brustia, Francesca;
- Gardani, Alice
Publication type:
Article
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Published in:
Brain: A Journal of Neurology, 2002, v. 125, n. 11, p. 2392
By:
- Wu, Fen‐Fen;
- Ryan, Aisling;
- Devaney, Joseph;
- Warnstedt, Maike;
- Korade‐Mirnics, Zeljka;
- Poser, Barbara;
- Escriva, Maria Jose;
- Pegoraro, Elena;
- Yee, Audrey S.;
- Felice, Kevin J.;
- Giuliani, Michael J.;
- Mayer, Richard F.;
- Mongini, Tiziana;
- Palmucci, Laura;
- Marino, Michael;
- Rüdel, Reinhardt;
- Hoffman, Eric P.;
- Fahlke, Christoph
Publication type:
Article
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
Published in:
BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-023-07150-x
By:
- Bettio, Cinzia;
- Banchelli, Federico;
- Salsi, Valentina;
- Vicini, Roberto;
- Crisafulli, Oscar;
- Ruggiero, Lucia;
- Ricci, Giulia;
- Bucci, Elisabetta;
- Angelini, Corrado;
- Berardinelli, Angela;
- Bonanno, Silvia;
- D'Angelo, Maria Grazia;
- Di Muzio, Antonio;
- Filosto, Massimiliano;
- Frezza, Erica;
- Maggi, Lorenzo;
- Mongini, Tiziana;
- Pegoraro, Elena;
- Rodolico, Carmelo;
- Scarlato, Marina
Publication type:
Article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Published in:
Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
By:
- Brogna, Claudia;
- Pane, Marika;
- Coratti, Giorgia;
- D'Amico, Adele;
- Pegoraro, Elena;
- Bello, Luca;
- Sansone, Valeria Ada Maria;
- Albamonte, Emilio;
- Messina, Sonia;
- Pini, Antonella;
- D'Angelo, Maria Grazia;
- Bruno, Claudio;
- Mongini, Tiziana;
- Ricci, Federica Silvia;
- Berardinelli, Angela;
- Battini, Roberta;
- Masson, Riccardo;
- Bertini, Enrico Silvio;
- Politano, Luisa;
- Mercuri, Eugenio
Publication type:
Article
Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.
Published in:
Children, 2022, v. 9, n. 7, p. N.PAG, doi. 10.3390/children9071063
By:
- Ricci, Federica S.;
- D'Alessandro, Rossella;
- Vacchetti, Martina;
- Salvalaggio, Anna;
- Somà, Alessandra;
- Daffunchio, Giorgia;
- Spada, Marco;
- Turra, Renato;
- Bobbio, Marisa;
- Ciuti, Alessandro;
- Davico, Chiara;
- Vitiello, Benedetto;
- Mongini, Tiziana E.
Publication type:
Article
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
By:
- El-Hassar, Lynda;
- Amara, Ahmed;
- Sanson, Benoit;
- Lacatus, Oana;
- Amir Belhouchet, Ahmed;
- Kroneman, Madelon;
- Claeys, Kristl;
- Plançon, Jean Philippe;
- Rodolico, Carmelo;
- Primiano, Guido;
- Trojsi, Francesca;
- Filosto, Massimiliano;
- Mongini, Tiziana Enrica;
- Bortolani, Sara;
- Monforte, Mauro;
- Carraro, Elena;
- Maggi, Lorenzo;
- Ricci, Federica;
- Silani, Vincenzo;
- Orsucci, Daniele
Publication type:
Article
Wearable Inertial Devices in Duchenne Muscular Dystrophy: A Scoping Review.
Published in:
Applied Sciences (2076-3417), 2023, v. 13, n. 3, p. 1268, doi. 10.3390/app13031268
By:
- Panero, Elisa;
- D'Alessandro, Rossella;
- Cavallina, Ilaria;
- Davico, Chiara;
- Mongini, Tiziana;
- Gastaldi, Laura;
- Ricci, Federica
Publication type:
Article
Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review.
Published in:
Applied Sciences (2076-3417), 2023, v. 13, n. 2, p. 1204, doi. 10.3390/app13021204
By:
- Cavallina, Ilaria;
- D'Alessandro, Rossella;
- Brusa, Chiara;
- Panero, Elisa;
- Rolle, Enrica;
- Rossi, Francesca;
- Mongini, Tiziana;
- Ricci, Federica Silvia
Publication type:
Article
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Published in:
Acta Myologica, 2023, v. 42, n. 4, p. 113, doi. 10.36185/2532-1900-323
By:
- Massucco, Sara;
- Gemelli, Chiara;
- Bellone, Emilia;
- Geroldi, Alessandro;
- Patrone, Serena;
- Mandich, Paola;
- Scarsi, Elena;
- Faedo, Elena;
- Marinelli, Lucio;
- Mongini, Tiziana;
- Traverso, Monica;
- Baratto, Serena;
- Schenone, Angelo;
- Fiorillo, Chiara;
- Grandis, Marina
Publication type:
Article
Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry.
Published in:
Acta Myologica, 2022, v. 41, n. 3, p. 126, doi. 10.36185/2532-1900-079
By:
- D'Alessandro, Rossella;
- Salvalaggio, Anna;
- Vacchetti, Martina;
- Mongini, Tiziana E.;
- Ricci, Federica S.
Publication type:
Article
Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?
Published in:
Acta Myologica, 2022, v. 41, n. 1, p. 24, doi. 10.36185/2532-1900-065
By:
- Ricci, Giulia;
- Torri, Francesca;
- Bianchi, Francesca;
- Fontanelli, Lorenzo;
- Schirinzi, Erika;
- Gualdani, Elisa;
- Francesconi, Paolo;
- Gagliardi, Delia;
- Serra, Gigliola;
- Mongini, Tiziana;
- Siciliano, Gabriele
Publication type:
Article
The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence.
Published in:
Acta Myologica, 2018, v. 37, n. 4, p. 241
By:
- IOLASCON, GIOVANNI;
- VITACCA, MICHELE;
- CARRARO, ELENA;
- CHISARI, CARMELO;
- FIORE, PIETRO;
- MESSINA, SONIA;
- GIOVANNA MONGINI, TIZIANA ENRICA;
- SANSONE, VALERIA A.;
- TOSCANO, ANTONIO;
- SICILIANO, GABRIELE
Publication type:
Article
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.
Published in:
Acta Myologica, 2017, v. 36, n. 4, p. 191
By:
- VITTONATTO, ELISA;
- BOSCHI, SILVIA;
- CHIADÒ-PIAT, LOREDANA;
- PONZALINO, VALENTINA;
- BORTOLANI, SARA;
- BRUSA, CHIARA;
- RAINERO, INNOCENZO;
- RICCI, FEDERICA;
- VERCELLI, LILIANA;
- MONGINI, TIZIANA
Publication type:
Article
Myelin-Associated Glycoprotein is Altered in a Familial Late-Onset Orthochromatic Leukodystrophy.
Published in:
Brain Pathology, 2005, v. 15, n. 2, p. 116, doi. 10.1111/j.1750-3639.2005.tb00506.x
By:
- Giordana, Maria Teresa;
- Piccinini, Marco;
- Palmucci, Laura;
- Buccinnà, Barbara;
- Ramondetti, Cristina;
- Brusco, Alfredo;
- Mongini, Tiziana;
- Leombruni, Sabrina;
- Vaula, Giovanna;
- Rinaudo, Maria Teresa
Publication type:
Article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Published in:
Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
By:
- Ricci, Martina;
- Cicala, Gianpaolo;
- Capasso, Anna;
- Coratti, Giorgia;
- Fiori, Stefania;
- Cutrona, Costanza;
- D'Amico, Adele;
- Sansone, Valeria A.;
- Bruno, Claudio;
- Messina, Sonia;
- Mongini, Tiziana;
- Coccia, Michela;
- Siciliano, Gabriele;
- Pegoraro, Elena;
- Masson, Riccardo;
- Filosto, Massimiliano;
- Comi, Giacomo P.;
- Corti, Stefania;
- Ronchi, Dario;
- Maggi, Lorenzo
Publication type:
Article
Phenotype modulators in myophosphorylase deficiency.
Published in:
Annals of Neurology, 2003, v. 53, n. 4, p. 497
By:
- Andrea Martinuzzi;
- Elena Sartori;
- Marina Fanin;
- Annachiara Nascimbeni;
- Lucia Valente;
- Corrado Angelini;
- Gabriele Siciliano;
- Tiziana Mongini;
- Paola Tonin;
- Giuliano Tomelleri;
- Antonio Toscano;
- Luciano Merlini;
- Laurence A. Bindoff;
- Stefano Bertelli
Publication type:
Article
Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.
Published in:
Journal of Neurology, 2022, v. 269, n. 6, p. 3264, doi. 10.1007/s00415-021-10954-3
By:
- Bonanno, Silvia;
- Zanin, Riccardo;
- Bello, Luca;
- Tramacere, Irene;
- Bozzoni, Virginia;
- Caumo, Luca;
- Ferraro, Manfredi;
- Bortolani, Sara;
- Sorarù, Gianni;
- Silvestrini, Mauro;
- Vacchiano, Veria;
- Turri, Mara;
- Tanel, Raffaella;
- Liguori, Rocco;
- Coccia, Michela;
- Mantegazza, Renato Emilio;
- Mongini, Tiziana;
- Pegoraro, Elena;
- Maggi, Lorenzo
Publication type:
Article
Muscle pain in mitochondrial diseases: a picture from the Italian network.
Published in:
Journal of Neurology, 2019, v. 266, n. 4, p. 953, doi. 10.1007/s00415-019-09219-x
By:
- Filosto, Massimiliano;
- Cotti Piccinelli, Stefano;
- Lamperti, Costanza;
- Mongini, Tiziana;
- Servidei, Serenella;
- Musumeci, Olimpia;
- Tonin, Paola;
- Santorelli, Filippo Maria;
- Simoncini, Costanza;
- Primiano, Guido;
- Vercelli, Liliana;
- Rubegni, Anna;
- Galvagni, Anna;
- Moggio, Maurizio;
- Comi, Giacomo Pietro;
- Carelli, Valerio;
- Toscano, Antonio;
- Padovani, Alessandro;
- Siciliano, Gabriele;
- Mancuso, Michelangelo
Publication type:
Article
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
Published in:
Journal of Neurology, 2016, v. 263, n. 6, p. 1204, doi. 10.1007/s00415-016-8123-2
By:
- Ricci, Giulia;
- Ruggiero, Lucia;
- Vercelli, Liliana;
- Sera, Francesco;
- Nikolic, Ana;
- Govi, Monica;
- Mele, Fabiano;
- Daolio, Jessica;
- Angelini, Corrado;
- Antonini, Giovanni;
- Berardinelli, Angela;
- Bucci, Elisabetta;
- Cao, Michelangelo;
- D'Amico, Maria;
- D'Angelo, Grazia;
- Muzio, Antonio;
- Filosto, Massimiliano;
- Maggi, Lorenzo;
- Moggio, Maurizio;
- Mongini, Tiziana
Publication type:
Article
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Published in:
2015
By:
- Mancuso, Michelangelo;
- Orsucci, Daniele;
- Angelini, Corrado;
- Bertini, Enrico;
- Carelli, Valerio;
- Comi, Giacomo;
- Donati, Maria;
- Federico, Antonio;
- Minetti, Carlo;
- Moggio, Maurizio;
- Mongini, Tiziana;
- Santorelli, Filippo;
- Servidei, Serenella;
- Tonin, Paola;
- Toscano, Antonio;
- Bruno, Claudio;
- Bello, Luca;
- Ienco, Elena;
- Cardaioli, Elena;
- Catteruccia, Michela
Publication type:
Erratum

Found: 75