Works matching AU Pane, Marika

Results: 99

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 7, p. 1368, doi. 10.1002/acn3.70070

By:

Piemonte, Fiorella;
Petrillo, Sara;
Capasso, Anna;
Coratti, Giorgia;
D'Amico, Adele;
Catteruccia, Michela;
Pera, Maria Carmela;
Palermo, Concetta;
Pane, Marika;
Abiusi, Emanuela;
Cicala, Gianpaolo;
Villa, Marianna;
Bravetti, Chiara;
Arpaia, Chiara;
Novelli, Agnese;
Falqui, Salvatore;
Fiori, Stefania;
Napoli, Giulia;
Baroni, Silvia;
Tiziano, Francesco Danilo

Publication type:

Article

Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 4, p. 282, doi. 10.1111/pan.14630

By:

Salerno, Annalisa;
Picconi, Enzo;
Genovese, Orazio;
Piastra, Marco;
Pulitanò, Silvia M.;
Tosi, Federica;
Mancino, Aldo;
Pane, Marika;
De Sanctis, Roberto;
Carlini, Debora;
Mercuri, Eugenio M.;
Conti, Giorgio

Publication type:

Article

Caregivers' Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4183, doi. 10.3390/jcm12134183

By:

Pera, Maria Carmela;
Coratti, Giorgia;
Casiraghi, Jacopo;
Bravetti, Chiara;
Fedeli, Alessandro;
Strika, Milija;
Albamonte, Emilio;
Antonaci, Laura;
Rossi, Diletta;
Pane, Marika;
Sansone, Valeria Ada;
Mercuri, Eugenio

Publication type:

Article

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920

By:

Stimpson, Georgia;
Ramsey, Danielle;
Wolfe, Amy;
Mayhew, Anna;
Scoto, Mariacristina;
Baranello, Giovanni;
Muni Lofra, Robert;
Main, Marion;
Milev, Evelin;
Coratti, Giorgia;
Pane, Marika;
Sansone, Valeria;
D'Amico, Adele;
Bertini, Enrico;
Messina, Sonia;
Bruno, Claudio;
Albamonte, Emilio;
Mazzone, Elena Stacy;
Montes, Jacqueline;
Glanzman, Allan M.

Publication type:

Article

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 403, doi. 10.3390/jcm12020403

By:

Chieffo, Daniela P. R.;
Moriconi, Federica;
Pane, Marika;
Lucibello, Simona;
Ferraroli, Elisabetta;
Norcia, Giulia;
Ricci, Martina;
Capasso, Anna;
Cicala, Gianpaolo;
Buchignani, Bianca;
Coratti, Giorgia;
Cutrona, Costanza;
Pelizzari, Monia;
Brogna, Claudia;
Hendriksen, Jos G. M.;
Muntoni, Francesco;
Mercuri, Eugenio

Publication type:

Article

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868

By:

D'Amico, Adele;
Fattori, Fabiana;
Nicita, Francesco;
Barresi, Sabina;
Tasca, Giorgio;
Verardo, Margherita;
Pizzi, Simone;
Moroni, Isabella;
De Mitri, Francesca;
Frongia, Annalia;
Pane, Marika;
Mercuri, Eugenio;
Tartaglia, Marco;
Bertini, Enrico

Publication type:

Article

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00605

By:

Passarelli, Chiara;
Selvatici, Rita;
Carrieri, Alberto;
Di Raimo, Francesca Romana;
Falzarano, Maria Sofia;
Fortunato, Fernanda;
Rossi, Rachele;
Straub, Volker;
Bushby, Katie;
Reza, Mojgan;
Zharaieva, Irina;
D'Amico, Adele;
Bertini, Enrico;
Merlini, Luciano;
Sabatelli, Patrizia;
Borgiani, Paola;
Novelli, Giuseppe;
Messina, Sonia;
Pane, Marika;
Mercuri, Eugenio

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

Longitudinal natural history of type I spinal muscular atrophy: a critical review.

Published in:

2020

By:

Mercuri, Eugenio;
Lucibello, Simona;
Perulli, Marco;
Coratti, Giorgia;
de Sanctis, Roberto;
Pera, Maria Carmela;
Pane, Marika;
Montes, Jacqueline;
de Vivo, Darryl C.;
Darras, Basil T.;
Kolb, Stephen J.;
Finkel, Richard S.

Publication type:

journal article

Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 3, p. 365, doi. 10.1111/dmcn.16079

By:

Trucco, Federica;
Albamonte, Emilio;
Pane, Marika;
Ricci, Federica;
D'amico, Adele;
Astrea, Guja;
Moroni, Isabella;
Pini, Antonella;
Fiorillo, Chiara;
Berardinelli, Angela;
Johnson, Nicholas E.;
Sansone, Valeria A.;
Lizio, Andrea;
di Bari, Alessandra;
Salmin, Francesca;
Beretta, Maria;
Casiraghi, Jacopo;
Pozzi, Susanna;
Antonaci, Laura;
Salvalaggio, Anna

Publication type:

Article

Performance of Upper Limb module for Duchenne muscular dystrophy.

Published in:

2020

By:

Mayhew, Anna G;
Coratti, Giorgia;
Mazzone, Elena Stacy;
Klingels, Katrijn;
James, Meredith;
Pane, Marika;
Straub, Volker;
Goemans, Natalie;
Mercuri, Eugenio;
Ricotti, Valeria;
Muntoni, Francesco;
Ridout, Deborah;
Selby, Victoria;
Pul Working Group

Publication type:

journal article

Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era.

Published in:

Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00975-z

By:

Mercuri, Eugenio;
Zampino, Giuseppe;
Morsella, Alisha;
Pane, Marika;
Onesimo, Roberta;
Angioletti, Carmen;
Valentini, Piero;
Rendeli, Claudia;
Ruggiero, Antonio;
Nanni, Lorenzo;
Chiaretti, Antonio;
Vento, Giovanni;
Korn, David;
Meneschincheri, Emilio;
Sergi, Paolo;
Scambia, Giovanni;
Ricciardi, Walter;
Cambieri, Andrea;
De Belvis, Antonio Giulio

Publication type:

Article

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116

By:

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

Publication type:

Article

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Published in:

PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677

By:

Pera, Maria Carmela;
Coratti, Giorgia;
Berti, Beatrice;
D'Amico, Adele;
Sframeli, Maria;
Albamonte, Emilio;
de Sanctis, Roberto;
Messina, Sonia;
Catteruccia, Michela;
Brigati, Giorgia;
Antonaci, Laura;
Lucibello, Simona;
Bruno, Claudio;
Sansone, Valeria A.;
Bertini, Enrico;
Tiziano, Danilo;
Pane, Marika;
Mercuri, Eugenio

Publication type:

Article

Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.

Published in:

Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1781, doi. 10.1002/ppul.24814

By:

Buonsenso, Danilo;
Berti, Beatrice;
Palermo, Concetta;
Leone, Daniela;
Ferrantini, Gloria;
De Sanctis, Roberto;
Onesimo, Roberta;
Curatola, Antonietta;
Fanelli, Lavinia;
Forcina, Nicola;
Norcia, Giulia;
Carnicella, Sara;
Lucibello, Simona;
Mercuri, Eugenio;
Pane, Marika

Publication type:

Article

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05903-x

By:

Capasso, Anna;
Cicala, Gianpaolo;
Ricci, Martina;
Pane, Marika;
D'Amico, Adele;
Bruno, Claudio;
Sansone, Valeria Ada;
Messina, Sonia;
Bello, Luca;
Pegoraro, Elena;
D'Angelo, Maria Grazia;
Masson, Riccardo;
Berardinelli, Angela;
Pini, Antonella;
Ricci, Federica;
Mongini, Tiziana Enrica;
Coccia, Michela;
Nigro, Vincenzo;
Trabacca, Antonio;
Filosto, Massimiliano

Publication type:

Article

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4735, doi. 10.1007/s00431-024-05735-9

By:

Pane, Marika;
Stanca, Giulia;
Coratti, Giorgia;
D' Amico, Adele;
Sansone, Valeria Ada;
Berti, Beatrice;
Fanelli, Lavinia;
Albamonte, Emilio;
Ausili Cefaro, Carolina;
Cerchiari, Antonella;
Catteruccia, Michela;
De Sanctis, Roberto;
Leone, Daniela;
Palermo, Concetta;
Buchignani, Bianca;
Onesimo, Roberta;
Kuczynska, Eliza Maria;
Tosi, Michele;
Pera, Maria Carmela;
Bravetti, Chiara

Publication type:

Article

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 7, p. 2995, doi. 10.1007/s00431-024-05546-y

By:

Pane, Marika;
Stanca, Giulia;
Ticci, Chiara;
Cutrona, Costanza;
De Sanctis, Roberto;
Pirinu, Matteo;
Coratti, Giorgia;
Palermo, Concetta;
Berti, Beatrice;
Leone, Daniela;
Sacchini, Michele;
Cerboneschi, Margherita;
Fanelli, Lavinia;
Norcia, Giulia;
Forcina, Nicola;
Capasso, Anna;
Cicala, Gianpaolo;
Antonaci, Laura;
Ricci, Martina;
Pera, Maria Carmela

Publication type:

Article

Assessing floppy infants: a new module.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2771, doi. 10.1007/s00431-022-04476-x

By:

Cutrona, Costanza;
Pede, Elisa;
De Sanctis, Roberto;
Coratti, Giorgia;
Tiberi, Eloisa;
Luciano, Rita;
Pera, Maria Carmela;
Velli, Chiara;
Capasso, Anna;
Vento, Giovanni;
Romeo, Domenico M.;
Pane, Marika;
Mercuri, Eugenio

Publication type:

Article

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2821, doi. 10.1007/s00431-022-04470-3

By:

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

Publication type:

Article

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Published in:

2021

By:

Tabolacci, Elisabetta;
Pomponi, Maria Grazia;
Remondini, Laura;
Pietrobono, Roberta;
Orteschi, Daniela;
Nobile, Veronica;
Pucci, Cecilia;
Musto, Elisa;
Pane, Marika;
Mercuri, Eugenio M.;
Neri, Giovanni;
Genuardi, Maurizio;
Chiurazzi, Pietro;
Zollino, Marcella

Publication type:

Case Study

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172346

By:

Ramsey, Danielle;
Scoto, Mariacristina;
Mayhew, Anna;
Main, Marion;
Mazzone, Elena S.;
Montes, Jacqueline;
de Sanctis, Roberto;
Dunaway Young, Sally;
Salazar, Rachel;
Glanzman, Allan M.;
Pasternak, Amy;
Quigley, Janet;
Mirek, Elizabeth;
Duong, Tina;
Gee, Richard;
Civitello, Matthew;
Tennekoon, Gihan;
Pane, Marika;
Pera, Maria Carmela;
Bushby, Kate

Publication type:

Article

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

Published in:

PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160195

By:

Mercuri, Eugenio;
Coratti, Giorgia;
Messina, Sonia;
Ricotti, Valeria;
Baranello, Giovanni;
D’Amico, Adele;
Pera, Maria Carmela;
Albamonte, Emilio;
Sivo, Serena;
Mazzone, Elena Stacy;
Arnoldi, Maria Teresa;
Fanelli, Lavinia;
De Sanctis, Roberto;
Romeo, Domenico M;
Vita, Gian Luca;
Battini, Roberta;
Bertini, Enrico;
Muntoni, Francesco;
Pane, Marika

Publication type:

Article

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151445

By:

Mazzone, Elena S.;
Coratti, Giorgia;
Sormani, Maria Pia;
Messina, Sonia;
Pane, Marika;
D'Amico, Adele;
Colia, Giulia;
Fanelli, Lavinia;
Berardinelli, Angela;
Gardani, Alice;
Lanzillotta, Valentina;
D’Ambrosio, Paola;
Petillo, Roberta;
Cavallaro, Filippo;
Frosini, Silvia;
Bello, Luca;
Bonfiglio, Serena;
De Sanctis, Roberto;
Rolle, Enrica;
Forcina, Nicola

Publication type:

Article

Focus on the road to modelling cardiomyopathy in muscular dystrophy.

Published in:

Cardiovascular Research, 2022, v. 118, n. 8, p. 1872, doi. 10.1093/cvr/cvab232

By:

Canonico, Francesco;
Chirivi, Maila;
Maiullari, Fabio;
Milan, Marika;
Rizzi, Roberto;
Arcudi, Alessandra;
Galli, Mattia;
Pane, Marika;
Gowran, Aoife;
Pompilio, Giulio;
Mercuri, Eugenio;
Crea, Filippo;
Bearzi, Claudia;
D'Amario, Domenico

Publication type:

Article

Pregnancy in the Era of Disease‐Modifying Therapies for Spinal Muscular Atrophy: Considerations From a Case Report.

Published in:

Muscle & Nerve, 2025, v. 71, n. 4, p. 685, doi. 10.1002/mus.28344

By:

Vadi, Gabriele;
Loprieno, Sara;
Torri, Francesca;
Chiappini, Roberto;
Fontanelli, Lorenzo;
Coratti, Giorgia;
Pera, Maria Carmela;
Pane, Marika;
Mercuri, Eugenio;
Siciliano, Gabriele;
Ricci, Giulia

Publication type:

Article

Ultrasound assisted versus landmark based intrathecal administration of nusinersen in adults with spinal muscular atrophy disease: A randomized trial.

Published in:

Muscle & Nerve, 2024, v. 70, n. 5, p. 1018, doi. 10.1002/mus.28248

By:

Zanfini, Bruno Antonio;
Catarci, Stefano;
Patanella, Agata Katia;
Vassalli, Francesco;
Frassanito, Luciano;
Pane, Marika;
Biancone, Matteo;
Di Muro, Mariangela;
Rizzi, Eleonora;
Mercuri, Eugenio Maria;
Sabatelli, Mario;
Draisci, Gaetano

Publication type:

Article

Ultrasound assisted lumbar intrathecal administration of nusinersen in adult patients with spinal muscular atrophy: A case series.

Published in:

Muscle & Nerve, 2021, v. 64, n. 5, p. 594, doi. 10.1002/mus.27400

By:

Zanfini, Bruno Antonio;
Catarci, Stefano;
Patanella, Agata Katia;
Pane, Marika;
Frassanito, Luciano;
Filipponi, Eleonora;
Mercuri, Eugenio;
Sabatelli, Mario;
Draisci, Gaetano

Publication type:

Article

Different trajectories in upper limb and gross motor function in spinal muscular atrophy.

Published in:

Muscle & Nerve, 2021, v. 64, n. 5, p. 552, doi. 10.1002/mus.27384

By:

Coratti, Giorgia;
Pera, Maria Carmela;
Montes, Jacqueline;
Pasternak, Amy;
Scoto, Mariacristina;
Baranello, Giovanni;
Messina, Sonia;
Dunaway Young, Sally;
Glanzman, Allan M.;
Duong, Tina;
De Sanctis, Roberto;
Mazzone, Elena Stacy;
Milev, Evelin;
Rohwer, Annemarie;
Civitello, Matthew;
Pane, Marika;
Antonaci, Laura;
Frongia, Anna Lia;
Sframeli, Maria;
Vita, Gian Luca

Publication type:

Article

Revised upper limb module for spinal muscular atrophy: Development of a new module.

Published in:

2017

By:

Mazzone, Elena S.;
Mayhew, Anna;
Montes, Jacqueline;
Ramsey, Danielle;
Fanelli, Lavinia;
Young, Sally Dunaway;
Salazar, Rachel;
De Sanctis, Roberto;
Pasternak, Amy;
Glanzman, Allan;
Coratti, Giorgia;
Civitello, Matthew;
Forcina, Nicola;
Gee, Richard;
Duong, Tina;
Pane, Marika;
Scoto, Mariacristina;
Pera, Maria Carmela;
Messina, Sonia;
Tennekoon, Gihan

Publication type:

journal article

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Published in:

2015

By:

Montes, Jacqueline;
Glanzman, Allan M.;
Mazzone, Elena S.;
Martens, William B.;
Dunaway, Sally;
Pasternak, Amy;
Riley, Susan O;
Quigley, Janet;
Pandya, Shree;
De Vivo, Darryl C;
Kaufmann, Petra;
Chiriboga, Claudia A.;
Finkel, Richard S.;
Tennekoon, Gihan I.;
Darras, Basil T.;
Pane, Marika;
Mercuri, Eugenio;
Mcdermott, Michael P.

Publication type:

journal article

Old measures and new scores in spinal muscular atrophy patients.

Published in:

Muscle & Nerve, 2015, v. 52, n. 3, p. 435, doi. 10.1002/mus.24748

By:

Mazzone, Elena;
Montes, Jacqueline;
Main, Marion;
Mayhew, Anna;
Ramsey, Danielle;
Glanzman, Allan M.;
Dunaway, Sally;
Salazar, Rachel;
Pasternak, Amy;
Quigley, Janet;
Pane, Marika;
Pera, Maria C.;
Scoto, Mariacristina;
Messina, Sonia;
Sframeli, Maria;
D'amico, Adele;
Van Den Hauwe, Marleen;
Sivo, Serena;
Goemans, Nathalie;
Darras, Basil T.

Publication type:

Article

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

Published in:

Muscle & Nerve, 2015, v. 52, n. 1, p. 13, doi. 10.1002/mus.24503

By:

Magliano, Lorenza;
Patalano, Melania;
Sagliocchi, Alessandra;
Scutifero, Marianna;
Zaccaro, Antonella;
D'angelo, Maria Grazia;
Civati, Federica;
Brighina, Erika;
Vita, Giuseppe;
Vita, Gian Luca;
Messina, Sonia;
Sframeli, Maria;
Pane, Marika;
Lombardo, Maria Elena;
Scalise, Roberta;
D'amico, Adele;
Colia, Giulia;
Catteruccia, Michela;
Balottin, Umberto;
Berardinelli, Angela

Publication type:

Article

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782

By:

Berti, Beatrice;
Verrigni, Daniela;
Nasca, Alessia;
Di Nottia, Michela;
Leone, Daniela;
Torraco, Alessandra;
Rizza, Teresa;
Bellacchio, Emanuele;
Legati, Andrea;
Palermo, Concetta;
Marchet, Silvia;
Lamperti, Costanza;
Novelli, Antonio;
Mercuri, Eugenio Maria;
Bertini, Enrico Silvio;
Pane, Marika;
Ghezzi, Daniele;
Carrozzo, Rosalba

Publication type:

Article

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810274

By:

Bosco, Luca;
Leone, Daniela;
Costa Comellas, Laura;
Monforte, Mauro;
Pane, Marika;
Mercuri, Eugenio;
Bertini, Enrico;
D'Amico, Adele;
Fattori, Fabiana

Publication type:

Article

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

Published in:

Journal of Neurology, 2020, v. 267, n. 4, p. 898, doi. 10.1007/s00415-019-09646-w

By:

Brogna, Claudia;
Cristiano, Lara;
Verdolotti, Tommaso;
Pichiecchio, Anna;
Cinnante, Claudia;
Sansone, Valeria;
Sconfienza, Luca Maria;
Berardinelli, Angela;
Garibaldi, Matteo;
Antonini, Giovanni;
Pane, Marika;
Pera, Maria Carmela;
Antonaci, Laura;
Ficociello, Luana;
Albamonte, Emilio;
Tasca, Giorgio;
Begliuomini, Chiara;
Tartaglione, Tommaso;
Maggi, Lorenzo;
Govoni, Alessandra

Publication type:

Article

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Published in:

Journal of Neurology, 2015, v. 262, n. 7, p. 1728, doi. 10.1007/s00415-015-7757-9

By:

Fattori, Fabiana;
Maggi, Lorenzo;
Bruno, Claudio;
Cassandrini, Denise;
Codemo, Valentina;
Catteruccia, Michela;
Tasca, Giorgio;
Berardinelli, Angela;
Magri, Francesca;
Pane, Marika;
Rubegni, Anna;
Santoro, Lucio;
Ruggiero, Lucia;
Fiorini, Patrizio;
Pini, Antonella;
Mongini, Tiziana;
Messina, Sonia;
Brisca, Giacomo;
Colombo, Irene;
Astrea, Guja

Publication type:

Article

'I have got something positive out of this situation': psychological benefits of caregiving in relatives of young people with muscular dystrophy.

Published in:

Journal of Neurology, 2014, v. 261, n. 1, p. 188, doi. 10.1007/s00415-013-7176-8

By:

Magliano, Lorenza;
Patalano, Melania;
Sagliocchi, Alessandra;
Scutifero, Marianna;
Zaccaro, Antonella;
D'Angelo, Maria;
Civati, Federica;
Brighina, Erika;
Vita, Giuseppe;
Vita, Gian;
Messina, Sonia;
Sframeli, Maria;
Pane, Marika;
Lombardo, Maria;
Scalise, Roberta;
D'Amico, Adele;
Colia, Giulia;
Catteruccia, Michela;
Balottin, Umberto;
Berardinelli, Angela

Publication type:

Article

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Published in:

European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16309

By:

Coratti, Giorgia;
Bovis, Francesca;
Pera, Maria Carmela;
Scoto, Mariacristina;
Montes, Jacqueline;
Pasternak, Amy;
Mayhew, Anna;
Muni‐Lofra, Robert;
Duong, Tina;
Rohwer, Annemarie;
Dunaway Young, Sally;
Civitello, Matthew;
Salmin, Francesca;
Mizzoni, Irene;
Morando, Simone;
Pane, Marika;
Albamonte, Emilio;
D'Amico, Adele;
Brolatti, Noemi;
Sframeli, Maria

Publication type:

Article

Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function.

Published in:

European Journal of Neurology, 2023, v. 30, n. 6, p. 1755, doi. 10.1111/ene.15768

By:

Pane, Marika;
Coratti, Giorgia;
Sansone, Valeria A.;
Messina, Sonia;
Catteruccia, Michela;
Bruno, Claudio;
Sframeli, Maria;
Albamonte, Emilio;
Pedemonte, Marina;
Brolatti, Noemi;
Mizzoni, Irene;
D'Amico, Adele;
Bravetti, Chiara;
Berti, Beatrice;
Palermo, Concetta;
Leone, Daniela;
Salmin, Francesca;
De Sanctis, Roberto;
Pera, Maria Carmela;
Piastra, Marco

Publication type:

Article

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Published in:

PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191164

By:

Vicari, Stefano;
Piccini, Giorgia;
Mercuri, Eugenio;
Battini, Roberta;
Chieffo, Daniela;
Bulgheroni, Sara;
Pecini, Chiara;
Lucibello, Simona;
Lenzi, Sara;
Moriconi, Federica;
Pane, Marika;
D’Amico, Adele;
Astrea, Guja;
Baranello, Giovanni;
Riva, Daria;
Cioni, Giovanni;
Alfieri, Paolo

Publication type:

Article

Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.

Published in:

Dysphagia (0179051X), 2023, v. 38, n. 6, p. 1568, doi. 10.1007/s00455-023-10584-z

By:

Trucco, Federica;
Salmin, Francesca;
Lizio, Andrea;
Coratti, Giorgia;
Albamonte, Emilio;
Frisoni, Maria Chiara;
Mauro, Luca;
Carraro, Elena;
Palazzo, Giovanni;
Lops, Jessica;
Cattaneo, Camilla;
Pozzi, Susanna;
Casiraghi, Jacopo;
Di Bari, Alessandra;
Berti, Beatrice;
Stanca, Giulia;
Ricci, Martina;
Pane, Marika;
Heatwole, Chad;
Dilek, Nuran

Publication type:

Article

Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature.

Published in:

2022

By:

Cristiano, Lara;
Brogna, Claudia;
Tasca, Giorgio;
Verdolotti, Tommaso;
Pane, Marika;
Mercuri, Eugenio

Publication type:

Literature Review

Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy.

Published in:

Medicina (1010660X), 2021, v. 57, n. 11, p. 1, doi. 10.3390/medicina57111267

By:

Brogna, Claudia;
Cristiano, Lara;
Verdolotti, Tommaso;
Norcia, Giulia;
Ficociello, Luana;
Ruiz, Roberta;
Coratti, Giorgia;
Fanelli, Lavinia;
Forcina, Nicola;
Petracca, Giorgia;
Chieppa, Fabrizia;
Tartaglione, Tommaso;
Colosimo, Cesare;
Pane, Marika;
Mercuri, Eugenio

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Article

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022

By:

Martoni, Elena;
Urciuolo, Anna;
Sabatelli, Patrizia;
Fabris, Marina;
Bovolenta, Matteo;
Neri, Marcella;
Grumati, Paolo;
D'Amico, Adele;
Pane, Marika;
Mercuri, Eugenio;
Bertini, Enrico;
Merlini, Luciano;
Bonaldo, Paolo;
Ferlini, Alessandra;
Gualandi, Francesca

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

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Article

Language Development in Preschool Duchenne Muscular Dystrophy Boys.

Published in:

Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1252, doi. 10.3390/brainsci12091252

By:

Chieffo, Daniela Pia Rosaria;
Moriconi, Federica;
Mastrilli, Ludovica;
Lino, Federica;
Brogna, Claudia;
Coratti, Giorgia;
Altobelli, Michela;
Massaroni, Valentina;
Norcia, Giulia;
Ferraroli, Elisabetta;
Lucibello, Simona;
Pane, Marika;
Mercuri, Eugenio

Publication type:

Article

Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 3, p. 156, doi. 10.3390/brainsci10030156

By:

Brogna, Claudia;
Luigetti, Marco;
Norcia, Giulia;
Scalise, Roberta;
Ferrantini, Gloria;
Berti, Beatrice;
Romeo, Domenico M.;
Manna, Raffaele;
Mercuri, Eugenio;
Pane, Marika

Publication type:

Article

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

Published in:

PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0220714

By:

Brogna, Claudia;
Coratt, 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.

Publication type:

Article

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

Published in:

PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218683

By:

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.

Publication type:

Article