Curriculum

- Gennaio-settembre 2002: periodo di perfezionamento con borsa di studio Erasmus, supervisione Prof. Mathias, direttore della Unità di Studio del Sistema Nervoso Vegetativo, presso l’Istituto di Neurologia e Neurochirurgia, University College di Londra, Queen’s Square, London, UK.

• Dal 5 ottobre 2017 Professore associato di Neurologia in servizio presso l’UOC di Neurologia e Malattie Neuromuscolari.
• da marzo 2015 fino al congedo per maternità: Coordinatore della ricerca clinica-scientifica del Centro Clinico Nemo Sud, Azienda Ospedaliera Universitaria “G. Martino” di Messina.

• Lezione frontale su “distrofie muscolari congenite” nel Corso di Specializzazione in Neuropsichiatria Infantile, Università Cattolica del Sacro Cuore, Roma, negli anni 2006, 2007, 2008, 2009.
• Lezione frontale su “semeiotica neurologica” nel Corso di Specializzazione in Neuropsichiatria Infantile (4° anno), Università Cattolica del Sacro Cuore, Roma, negli anni 2006, 2007, 2008, 2009.
• Lezione frontale su “distrofie muscolari” nel Corso di Specializzazione in Neuropsichiatria Infantile (5° anno), Università Cattolica del Sacro Cuore, Roma, gennaio 2008.

• Dal 2006: Svolge didattica integrativa a piccoli gruppi nel Corso integrato di Neuroscienze, V anno, Corso di Laurea Medicina e Chirurgia, Università di Messina.

• Anno 2012/2013- Docenza nella Scuola di Specializzazione in Farmacia Ospedaliera, III anno, 2 crediti formativi, CI Terapie delle malattie del SNC (1 CF: aspetti fisiologici, 1 CF: basi genetiche delle malattie neurodegenerative).

• ha conseguito iL 3 FEBBRAIO 2014 l’abilitazione nazionale per la seconda fascia SSD med/26, sc 06/D6 con ampio superamento delle 3 mediane (mediana superata del 60% per il n. di articoli normalizzati, del 110% per il n. di citazioni normalizzate e del 40% per l’h index corretto).
• ha conseguito A MARZO 2017 l’abilitazione nazionale per la PRIMA fascia SSD med/26, SSD MED/38 e SSD MED/39, SSD-N1 con ampio superamento delle 3 mediane.

1. Messina S.  “Quality of life in Neuromuscular Disorders”. TREAT-NMD/ENMC Workshop on outcome measures, 12-13 Maggio 2007, Naarden, The Netherlands.
2. Messina S. “Overview on activity monitors”. Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11, Luglio 2007, Parigi, Francia.
3. Messina S. “The upper limb scale” ENMC Workshop, Outcome measures in neuromuscular disorders. Naarden, The Netherlands, Ottobre 2007. 
4. Messina S. et al. Effect of vascular endothelial growth factor gene transfer on muscle regeneration in mdx mice. E. Gutmann Heritage Conference,  Aprile 11-14, 2007 in TERME EUGANEE/Montegrotto Terme & Padova, Italy.
5. Vita G, Rodolico C, Messina S. Oxidative stress in muscular dystrophies and animal models. International conference on free radicals nad oxidative stress in biology and medicine. September 26-27, 2008, Facoltà di Farmacia, in Messina.
6. Messina S. “Outcome measures and clinical management of Neuromuscular Disorders”. 25 Maggio 2008; Rabat, Marocco. Master of Kinesitherapy nel contesto del Progetto Europeo ECPIR.
7. Messina S. “The North Star Assessment”, Treat-NMD International workshop on outcome measure, 20-21, Aprile, 2009, Roma.
8. Messina S. “Therapeutic approaches to Duchenne muscular dystrophy: the role of flavocoxid”, 31 Ottobre 2009, United Parent Project Muscular Dystrophy Conference, Firenze.
9. Messina S. “Approcci farmacologici alla DMD: il ruolo del flavocoxid”. IIX Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 13 –14 febbraio 2010. Hotel Holiday Inn Roma.
10. Messina S. ”Flavocoxid nella DMD: dalle evidenze sperimentali al clinical trial”. IX Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 18 – 20 febbraio 2011. Hotel Holiday Inn. Roma
11. Messina S. ”Studio clinico col flavocoxid nella DMD: a che punto siamo?”. X Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 17 – 19 febbraio 2012. l'Ergife Palace Hotel. Roma
12. Messina S. ”Risultati preliminari dello clinico col flavocoxid nella DMD”. XI Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 21 – 24 febbraio 2013. l'Ergife Palace Hotel. Roma
13. Messina S. “Management and therapy of muscular patients”. RARE DISEASES North African Neuromuscular Training Meeting. 21 - 22 June 2013 “Aula Magna” University of Messina, Italy.
14. Messina S. “Inflammation key targets”  Action Duchenne International Conference, Londra, 8-9 Novembre 2013.
15. Messina S. ”Trial clinico col flavocoxid nella DMD”. XII Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 20 – 23 febbraio 2014. l'Ergife Palace Hotel. Roma
16. Messina S. ”Flavocoxid: pivotal clinical study”. XIII Conferenza Internazionale sulla Distrofia muscolare Duchenne e Becker, 21 – 22 febbraio 2015. The Church Palace Hotel. Roma
17. Messina S. “Novel traslational approach in Duchenne muscular dystrophy treatment”.  XII Congress of Mediterranean Society of Myology- Napoli 15-18 maggio 2015.
18. Messina S. “Application of muscle imaging  in paediatric muscle diseases”.  4^Th International Conference on Neuromuscular Ultrasound; Palermo, ISPIN 2015,12-14 novembre 2015.
19. Messina S. “Outcome measures in Pompe Disease”. Excellent Center Immersion in Pompe disease management, Messina, 16 Maggio 2017.
20. Messina S. “Multidisciplinary management of SMA”. Biogen Launch Meeting, European Pediatric Neurological Society Symposium, Lyon, 19 giugno 2017.

1. Messina S, Kinali M, Mercuri E, Padua L, Main M, Muntoni F. Gli strumenti di QoL nelle patologie neuromuscolari ed esperienze preliminari sullo sviluppo di un questionario specifico per la di un questionario specifico per la distrofia muscolare di Duchenne. XXXIV Congresso società Italiana di Neurologia, Roma, 11-15 Ottobre 2003,  Neurol Sci 2003;24: S746-S749.  
2. G. Vita , S. Messina. Vascular endothelial growth factor gene transfer using adeno-associated viral vectors stimulates skeletal muscle regeneration and enhances muscle function in mdx mice. Meeting of the PRIN 2004/2006. 20-21 Ottobre 2006. Basic and Applied Myology 2006;16:10.
3. Messina S. Approcci terapeutici nell’atrofia muscolare spinale. Corso teorico pratico sulla Riabilitazione delle malattie Neuromuscolari, Ottobre 25 2007, Unione Lotta Distrofia Muscolare (UILDM) Center, Roma Italia.
4. Messina S. Approcci terapeutici nell’atrofia muscolare spinale. Corso teorico pratico sulla Riabilitazione delle malattie Neuromuscolari, Novembre 22, 2008, Unione Lotta Distrofia Muscolare (UILDM) Center, Rome Italy.
5. Messina S. La presa in carico del paziente neuro-muscolare. 28° Giornate Pediatriche Siciliane, Novembre 28, 2008 Biancavilla, Catania
6. Messina S. La presa in carico del paziente con malattie neuromuscolari presso il Policlinico di Messina. Convegno Parent Project: dalla diagnosi alla presa in carico dei pazienti con DMD. Vittoria, 9 maggio 2009.
7. Messina S. La gestione nutrizionale nell’atrofia muscolare spinale. V Congresso annuale Associazione Nazionale Famiglie SMA. Roma 5-6 Settembre 2009.
8. Messina S. Il cuore e la malattia neuromuscolare. 10° Congresso AAROI-SIARED Sardegna, Simposio Parent Project DMD. Cagliari 14 Ottobre 2009.
9. Messina S. La gestione ortopedica/fisiatrica nella distrofia muscolare. 10° Congresso AAROI-SIARED Sardegna, Simposio Parent Project DMD. Cagliari 14 Ottobre 2009.
10. Messina S. Approcci terapeutici nell’atrofia muscolare spinale. Corso teorico pratico sulla Riabilitazione delle malattie Neuromuscolari, Novembre 27, 2009, Unione Lotta Distrofia Muscolare (UILDM) Center, Rome Italy.
11. Messina S. Distrofie muscolari congenite con ritardo mentale:  studio della popolazione italiana. La patologia neuromuscolare in età evolutiva. IRCCS Stella Maris, Pisa 15 Maggio 2010
12. Messina S. Modulazione delle interazioni fra muscolo e risposta infiammatoria nella distrofia muscolare. Giornata della ricerca dell’Università di Messina. 15 luglio 2010, Messina.
13. Messina S. Approcci terapeutici  nell’Atrofia Muscolare Spinale Manifestazioni Nazionali UILDM 2010, Lignano Sabbiadoro
14. Messina S. Le distrofie muscolari congenite. Updates nelle Malattie Neuromuscolari. Università di Brescia, 28 febbraio 2011, Brescia
15. Messina S. Evidenze in tema di infiammazione, degenerazione e necrosi. Convegno SIMPIA. La distrofia muscolare di Duchenne: dalla patogenesi alla presa in carico. Bologna 4 febbraio 2011.
16. Messina S. La gestione clinica multidisciplinare: l’esperienza del Centro per le Malattie Neuromuscolari di Messina. Convegno Pneumologia e malattie Neuromuscolari. Università degli Studi Di Messina.  14-15  febbraio 2011
17.  Messina S, Vita GL. Aspetti riabilitativi della gestione clinica dei pazienti con Atrofia Muscolare Spinale.VII Convegno nazionale ASAMSI - FAMIGLIE SMA (atrofia muscolare spinale) Roma  2-4 Settembre 2011.
18. Messina S. Il sospetto diagnostico: le malattie neuromuscolari. Corso di formazione: diagnosi e assistenza sulla malattie rare. Lamezia Terme. 17 dicembre 2011.
19. Messina S. Il sistema nervoso centrale nelle distrofie muscolari congenite. Le malattie neuromuscolari nei primi anni di vita: dalla diagnosi alla presa in carico. Pavia, IRCCS Mondino, 23-24 marzo 2012.
20. Messina S. La gestione dei sintomi nella SLA: la nutrizione. Convegno AISLA: Aggiornamenti sulla SLA: dalla ricerca agli aspetti socio-assistenziali. Messina. 14 aprile 2012.
21. Messina S.  La SLA come metafora della complessità nella gestione del rapporto tra persona in cura e medico. Convegno AISLA: Sistema socio-assistenziale nelle demenze e nella SLA. Messina. 10 novembre 2012.
22. Messina S. Aggiornamenti sulla terapia delle distrofie muscolari. Malattie rare: Convegno su gestione e presa in carico globale delle malattie neuromuscolari. Messina, 6-7 Dicembre 2012 
23. Messina S. Distrofinopatie. 6° Corso residenziale di perfezionamento nella diagnosi e terapia delle malattie neuromuscolari. Dipartimento di Neuroscienze, Università di Messina. Messina, 3-6 Dicembre 2012. 
24. Messina S. La sclerosi laterale amiotrofica. Corso di aggiornamento gestione perioperatoria della miorisoluzione nel paziente con patologia neuromuscolare, Centro Congressi Policlinico Universitario “G. Martino”- Messina 28 giugno, 2013.
25. Messina S. Stato dell’arte sulle terapie della distrofia muscolare di Duchenne. Manifestazioni Nazionali UILDM 2013, 23-25 maggio, Lignano Sabbiadoro.
26. Messina S. Le cure palliative non oncologiche : Sclerosi laterale amiotrofica , Auditorium G. Martino- Ordine dei Medici chirurghi ed Odontoiatri della provincia di Messina- Messina 15 Novembre 2013.
27. Messina S. Sclerosi laterale amiotrofica , nel corso “Dalla teoria alla practice formazione integrata di cure palliative nella SLA”, Auditorium Policlinico G. Martino Messina 25-27 Novembre 2013.
28. Messina S. Le scale di valutazione quantitativa della forza nel bambino miopatico. XXXIX Congresso Nazionale Società Italiana di Neurologia Pediatrica. Genova 21-23 novembre 2013
29. Messina S. La SLA: emblema della complessità clinica. Come affrontarla? Assemblea annuale A.I.S.L.A. Le Dune Blu Resort Baia dei Pini San Ferdinando (RC) 26 aprile 2014.
30. Messina S. Effetti di una gestione clinica ottimale  sulla storia naturale di malattia. Convegno AIFI Sicilia, Messina,  24 maggio 2014.
31. Messina S. Stato dell’arte sugli approcci terapeutici nella SLA”. Convegno “Prospettive di ricerca e di assistenza per fermare la SLA”, Giornata mondiale contro la SLA. Messina, 21 giugno 2014.
32. Messina S. Il ruolo della fisioterapia e degli ausili nell’approccio multidisciplinare. Corso di aggiornamento XLV Convegno Società Italiana di Neurologia. Cagliari 11-14 Ottobre 2014.

• PARTECIPAZIONE A CORSI D’AGGIORNAMENTO/ WORKSHOP INTERNAZIONALI:

1. “Update in Neuroimmunology”,Neuroimmunology Italian Association, “Istituto San Raffaele”, Milano, 22-26 Marzo 2001.
2.  “Update in Neuromuscular Disorders”, Hammersmith Hospital, Imperial College School ofMedicine, London, UK, 10-14 Marzo, 2002.
3. “Update in Neuromuscular Disorders”, Hammersmith Hospital, Imperial College School ofMedicine, London, UK, 22-26 Giugno, 2003.
4. “Update in Neuromuscular Disorders”, Hammersmith Hospital, Imperial College School ofMedicine, London, UK, 13-15 Giugno, 2007.
5. Muscle glycogenoses. Workshop 27-28 ottobre 2006. Badia della Castagna. Genova
6. Challenging Brain Computer Interfaces: neural engineering meets clinical needs in neurorehabilitation- the MAIA project. Workshop 9-10 novembre 2006. Fondazione S. Lucia IRCCS. Roma
7. TREAT-NMD Neuromuscular Network. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands;
8. TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands;
9. Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.
10. 2012- Certificate of Completion of the training course “Protecting Human Research Participants” by the  National Institutes of Health (NIH) Office of Extramural Research .
11. International Upper Limb Meeting: Patient Reported Outcome Measures (PROM), sponsored by Parent Project, June 10th2015, Rome, Italy
12. International Meeting consortium PNCR/Italian /UKSMA networks, sponsored by Roche, Rome 15^th, 16 th of October 2015
13. Expert Masterclass on Duchenne muscular dystrophy, 18-19 maggio 2017, Lisbona, Portogallo.

• PARTECIPAZIONE AD ADVISORY BOARD/tavoli tecnici:

1. Dal 2015 membro dell’Advisory board dell’azienda PTC therapeutics International per lo sviluppo di trial clinici internazionali nella distrofia muscolare di Duchenne.
2. 5 febbraio 2016, Milano: invitata al tavolo tecnico organizzato da famiglie SMA nel progetto SMArt : “la gestione dell’emergena respiratoria nella atrofia muscolare spinale.
3. Dal 2016 membro dell’Advisory Board dell'azienda farmaceutica Santhera per lo sviluppo di trial clinici internazionali nella distrofia muscolare di Duchenne.
4. PTC Therapeutics Clinical Advisory Board Meeting, 11 Maggio 2017, Zurich.
5. Intervento “Lo stato dell’arte nella riabilitazione motoria” al “Gruppo di lavoro sulla riabilitazione neuromuscolare, motoria e respiratoria nella malattia di Pompe”, 26 settembre 2017, Milano

1. Neuromuscular disorders
2. American Journal of Pathology
3. Developmental Medicine & Child Neurology
4. Journal of Molecular Diagnostics
5. Muscle & Nerve
6. Molecular basis of Disease
7. Journal of Applied Physiology
8. Neurobiology of Disease
9. Gynecological Endocrinology
10. Nutrition Research
11. Neurological Sciences
12. NeuroMolecular Medicine 
13. PLOS ONE
14. Redox Report
15. Journal of the Neurological Sciences

Curriculum

CURRICULUM VITAE
 
 

 
PROF. SONIA  MESSINA
 
PLACE OF BIRTH: Messina
NATIONALITY: Italian.
E-MAIL:  smessina@unime.it
PHONE: 0039 090 2217191
FISCAL CODE: MSSSNO76E45F158W
 

Synopsis of clinical and research activities:
 
Sonia Messina is Associate Professor of Neurology at University of
Messina and Scientific Coordinator of the Nemo Sud Clinical Center, Policlinico Universitario of Messina.
She had the Italian Habilitation (ANVUR) to Full Professor of Neurology in 2017.
 
She has built up a significant experience over time in the following main research areas:
1) Translational studies on possible therapeutic approaches to muscle dystrophies, mainly studied in the mdx mice model.
2) Designing and conducting clinical trials in NMD.
3) Evaluating the existing outcome measures and developing new tools specific for NMD in multicentric settings and for clinical trials (As research fellow of the TREAT-NMD WP 09.1.-Outcome measures).
4)Descriptive and genotype-phenotype correlation studies in several neuromuscular disorders (NMD)., specifically focusing on muscular dystrophies.
5) Neuro-rehabilitative management of patients with NMD.
 
 
These activities have been held thanks to strict collaborations with national and international leading NMD Centers.
 
She is author of more than 100 international peer - reviewed articles on the most important neurological  and neurobiological journals with an H - index of 32, and a corrected H - index of 28. She was recipient of several research funds from Telethon Foundation as partner (15 grants 2004 -2014) and national
Coordinator (2011), from AIFA (2008) and Ministry of Health (2004).
 
Since 2013 she has coordinated the clinical and research activity of NEMO Sud Clinical Center, a multidisciplinary Center dedicated to neuromuscular patients with the acronym of “NEuroMuscular Omnicentre”. The Clinical Center is a Fondazione Aurora  ONLUS project, a non-profit association constituted by patients organizations (UILDM, AISLA, Associazione Famiglie SMA), Telethon Foundation and Azienda Ospedaliera Universitaria Policlinico (Main Hospital) and University of Messina. Nemo Sud started its activity in March 2013 and in the last year has followed with a multidisciplinary neuroriabilitative approach more than 1000 patients affected by NMD. Among those more than 40% are represented by children and adults affected by muscle dystrophies and 50 % by amyotrophic lateral sclerosis. The Center was born in the heart of the main Universitary Hospital of Messina, has a team composed by neurologists, pneumologists, physio- and speech therapists   and works in strict collaboration with the team of the Department of Neurosciences, with a long - standing expertise in diagnosis and management of NMD. Therefore Nemo Sud offers a complete diagnostic work-out and a multidisciplinary  “in” (10 beds) and “out-patients” care with all the relevant clinical branches being represented in the staff.
The Center is involved in several international research projects and advanced therapeutic trials such as  ISIS-SMNRx trial in SMA, GSK and Prosensa studies on exon skipping in DMD.
 
She participated to several National and International meetings as speaker.
 
 
 
 
 
PRESENT APPOINTMENTS:
 
- since October 2017: Associate Professor of Neurology, Department of Clinical and Experimental Medicine at University of Messina
 
-  since 2013: Research Coordinator of the Nemo Sud Clinical Center, University Hospital of Messina, Messina, Italy.
 
She had the Italian Habilitation (ANVUR) to Associate Professor of Neurology in 2014 and to full professor of Neurology in 2017.
 
PREVIOUS APPOINTMENTS:
 
- 2003-2005: Part-time Clinical Research Fellow at the Neuromuscular Unit Neurosciences “Bambin Gesù” Hospital of Rome (under the supervision of Prof. Bertini).
- 2003 -2008: Part-time Research Fellow at the Department of Paediatric Neurology, “Università Cattolica del Sacro Cuore”, Rome (under the supervision of Prof. Mercuri),.
- 2007-2009: Research Fellow of the TREAT-NMD (Translational Research in Europe Assessment and Treatment of Neuromuscular Diseases) (WP09.1. Outcome measures), a large network of excellence including 21 partners and  Funded by the European Union.
- 2004-2009 : part-time Consultant Neurologist at the Rehabilitation Center Unione Lotta alla Distrofia Muscolare (UILDM) of Rome, Italy
- 2008- 2011: Research Fellow at Department of Neurosciences (under the supervision of Prof. Vita), University of Messina.
- 2013- 2014: Clinical Director of Nemo Sud Clinical Center.
-  2011-2017: “Senior” Assistant Professor of Neurology, Department of Clinical and Experimental Medicine at University of Messina
 
EDUCATION:
- Diploma at Classical Lyceum , July 1994,  with marks 60/60.
- Degree in Medicine (MD), 28^th of July 2000  at the University of Messina with  marks 110/110 with honours  with the experimental thesis “Oxidative stress in Myotonic Dystrophy” published on Free radical research 2005 (see publications).
- State examination of the School of Medicine, 20^th of July 2001 with marks 100/100 with honours.
- Board in Neurology, 31^st of October 2005 at the University of Messina with marks 50/50 with honours with the experimental thesis “Nuclear factor K-B inhibition reduces degeneration and improves muscle function in mdx mice” published on Am J Pathol and Exp Neurol 2006 (see publications).
- PhD in Clinical Neurosciences, 8^th of April 2009 at the University of Messina with the thesis “Therapeutical approaches to Duchenne muscular dystrophy: positive effects of flavocoxid on muscle function and morphology in the murine model mdx mice” in press on Exp Neurol.
 
FOREIGN LANGUAGES:
Good knowledge of English language.
 
- HONOURS:
-1996:  International Medical Students Organisation Fellowship.
-2002-2003:  Erasmus Post-degree Fellowship.
- 2007: Best young Researcher Prize, University of Messina.
- 2009: Best young Researcher Prize, University of Messina.
- 2009: Best Presentation Italian Conference of Myology, Pisa.
- 2006, 2008, 2010, 2012: Fellowship “World Muscle Society” conference.
 
FELLOWSHIPS ABROAD:
-1996:  International Medical Students Organisation Fellowship, Barcelona,  Spain.

-2002:  Erasmus Post-degree Fellowship, University College of London,  Queen’s Square, London, UK.

-2002-2003: British NHS Research Grant at the Hammersmith Hospital (London , UK) for the project: therapeutic trial with salbutamol in the congenital myopathies.
 
 
 
 
 
research funds:
2004-2006: Collaborator “in the Project of the Italian Ministry of Health Grant, Project of national Interest prot. 2004061452. “From regeneration to skeletal muscle reconstruction: regulatory mechanism and therapeutic approaches”. Coordinator: Prof. Vita, Director Dept. of Neurosciences, University of Messina, Italy.
2004-2005: Collaborator Telethon-UILDM Project GUP 30530: “Validation of Outcome Measures for Spinal MuscularAtrophy using the Hammersmith Functional Motor Scale for Children, and abductor digiti minimi CMAP amplitude”. Coordinator Dott. Bertini, Director Dept. of Neuromuscular Disorders, Bambin Gesù Hospital, Rome, Italy.
2004-2005: Research fellow Telethon-UILDM Project GUP3558:: “Clinical, radiological and immunohistochemical classification of congenital muscular dystrophies with mental retardation”. Coordinator: Prof. Mercuri, Director Dept. of Child Neurology, Catholic University, Rome, Italy.
2006: Young Researcher Prize, University of Messina
2006-2008: Collaborator “in the Project of the Italian Ministry of Health Grant, Project of national Interest: Clinical and radiological correlations in patients with congenital myopathies. Coordinator: Prof. Mercuri, Director Dept. of Child Neurology, Catholic University, Rome, Italy.
2006-2007: Partner in the Telethon Project GGP07035 Spinal muscular atrophy: study on the in vivo and in vitro effect of phenilbutyrrate on SMN2 gene expression. Coordinator Prof. Brahe, Dept. of Uman Genetics, Catholic University, Rome, Italy.
2006-2008: Partner in the Project of Current Research IRCCS  San Raffaele della Pisana Rome: Rehabilitation approaches to motor impairment in patients with neuromuscular disorders Coordinator Dott. Tufarelli, Director Dept. of Neuro-rehabilitation, IRCCS San Raffaele della Pisana, Rome, Italy.
2007-2008: Collaborator Telethon-UILDM Project GUP6004: “Genotype-phenotype correlation in congenital muscular dystrophies with alpha dystroglycan deficiency and  other forms with mental retardation”. Coordinator: Dott. Bertini, Director Dept. of Neuromuscular Disorders, Bambin Gesù Hospital, Rome, Italy.
2008-2009: Research fellow Telethon-UILDM Project GUP7009: “Outcome measures in Duchenne muscular dystrophy”. Coordinator: Prof. Mercuri, Director Dept. of Child Neurology, Catholic University, Rome, Italy.
2009-2010: Collaborator Telethon-UILDM Project GUP8005: “Clinical, morphological and molecular study of Italian patients with congenital myopathy”. Coordinator: Dr. Bruno, Dept. of Neuromuscular Disorders, GAslini Hospital, Genoa, Italy.
- 2010-2011: Principal Investigator : Telethon-UILDM Project GUP09010: “Outcome measures in Duchenne muscular dystrophy: validation of the Pediatric Quality of Life Inventory^TM Neuromuscular Module in the Italian population and correlation with other functional assessments”.
- 2010-1012: Principal Investigator : “Studio pilota per testare la sicurezza e la tollerabilità del Limbrel® nella distrofia muscolare di Duchenne” finanziato dall’Associazione Parent Project ONLUS.
- 2011-2012: Collaborator Telethon-UILDM project “The families of children with muscular dystrophies: burden, social network and professional support”,  GUP10002”.
- 2011-2012: Collaborator Telethon-UILDM project GUP09016: “Outcome measures in Charcot−Marie−Tooth disease: validation of the 6−minute walk test and daily step activity monitor”.
- 2013-2014: Partner Telethon-UILDM Project GUP11001: “Development of a registry  and a database for a nation-wide Italian collaborative network on congenital muscular distrophy”. 
- 2013-2014: Collaborator Telethon-UILDM project GUP11002: “Assessment of upper limb function in non ambulant Duchenne muscular dystrophy”. 
2014-2016: PartnerTelethon-UILDM Project GUP13004C “Complete molecular characterization of patients affected by congenital muscular dystrophies with alpha - dystroglycan defect using next generation sequencing strategies”. 
2014-2016:  : PartnerTelethon-UILDM Project GSP13002 “Development of an Italian Clinical Network for Spinal Muscular Atrophy”.  
 
CLINICAL TRIALS
-2002-2003: British NHS Research Grant at Dubowitz Neuromuscular Center, Hammersmith Hospital (Londra, UK), project: “Therapeutic trial with salbutamol in congenital myopathies”.
- 2009-2010: SMA Therapeutic Trial funded by AIFA “Efficacy and tolerability of  salbutamol in SMA”
- 2011-2012: Local Study-coordinator in International Therapeutic Trial in spinal muscular atrophy: Phase II, multicenter, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of olesoxime (TRO19622) in 3-25 year old Spinal Muscular Atrophy (SMA) patients.
- 2011-2012: Local Study-coordinator in a “phase III, randomised, double-blind, placebo-controlled clinical trial to assess the efficacy and safety of multiple subcutaneous doses of GSK2402968 in subjects with Duchenne muscular dystrophy (DMD114044)”.
- 2011-2012:   Therapeutic Trial with flavocoxid in Duchenne muscular dystrophy funded by Parent Project Italia, “Associazione Amici di Edy” and Primus Pharmaceuticals, USA
- 2012-2014:  Therapeutic Trial in Duchenne muscular dystrophy “FOR-DMD” funded by NIH.- 2012-2014:  A 2-Part Study to Assess the Safety and Tolerability, pk, Effects on Histology and Some Clinical Parameters of Givinostat in Ambulant Children With DMD, sponsored by Italfarmaco.
- 2012-2015:     RISK FACTORS FOR BONE LOSS AND FRACTURES IN BOYS AFFECTED BY DUCHENNE MUSCULAR DYSTROPHY: FROM GENETICS TO TREATMENT (RisBO-DMD), 
- 2014-2016:     A PHASE 3 EFFICACY AND SAFETY STUDY OF ATALUREN (PTC124) IN PATIENTS WITH NONSENSE  MUTATION DYSTROPHINOPATHY
- 2015-2016:  Principal Investigator: A Phase 3, Randomized, Double- blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients with Later-onset Spinal Muscular Atrophy.
-  2015-2017: Principal Investigator: PROTEIN MISFOLDING, AMYOTROPHIC LATERAL SCLEROSIS AND GUANABENZ: A PHASE II RCT WITH FUTILITY DESIGN, Sponsor: Besta Neurological Institute.
- 2015-2017:  Principal Investigator:  A prospective,   multicenter,   randomised,   double-blind,  placebo-controlled,  parallel  groups,  phase 2/3  study  to  compare  the  efficacy  and  safety  of masitinib  versus  placebo  in  the  treatment  of patients   suffering   from   Amyotrophic   Lateral Sclerosis  (ALS)" Sponsor: Phidea Group.
- 2016-2018:  Principal Investigator:: A Phase 3, Randomized, Double- blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients with Later-onset Spinal Muscular Atrophy.
 
 
INternationa PAtent:
April 2009: “Methods for treating Duchenne muscular dystrophy with flavonoids”, US Patent 61/147,460. Authors: Sonia Messina, Giuseppe Vita, Alessandra Bitto, Francesco Squadrito, Bruce Burnett.
 
 
- MEMBERSHIPS
- Since 2009 member National Scientific Commission Association UILDM (Union against muscular dystrophy).    
- Since 2001 member Italian Society of Neurology  
- Since 2001 member Italian Association of Myology 
- Since 2004 member World Muscle Society.
 
REVIEWER INTERNATIONAL JOURNALS
•          Neuromuscular disorders
•          American Journal of Pathology
•          Developmental Medicine & Child Neurology
•          Journal of Molecular Diagnostics
•          Muscle & Nerve
•          Molecular basis of Disease
•          Journal of Applied Physiology
•         Neurobiology of Disease
< >Gynecological EndocrinologyNutrition ResearchNeurological SciencesNeuroMolecular MedicinePLOS ONERedox ReportJournal of the Neurological SciencesMonici MC, Rodolico C, Toscano A, Messina S, Benvenga S, Messina C, Vita G. Apoptosis and apoptosis-related proteins in thyroid myopathies. Muscle Nerve, 2002 Sep;26(3):383-8. Impact factor 2.456Rodolico C, Toscano A, Autunno A, Messina S, Nicolosi C, Aguennouz M, Laurà M,Girlanda P, Messina C, Vita G. Limb-girdle myasthenia: clinical, elettrophysiologicaland morphological features in familial and auto-immune cases. Neuromusc Disord 2002;12:964-969. Impact factor3,5Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez C, Brockington M, Yuva Y, Sewry CA, Muntoni F. Muscle Magnetic Resonance Imaging in patients with congenital muscular dystrophy and Ulrich phenotype. Neuromusc Disord 2003;13:554-558. Impact factor3,5Rodolico C, Messina S, Toscano A, Gaeta M, Vita G. Axial myopathy in myasthenia: a misleading cause of dropped head. Muscle Nerve 2004;29:329-330. Impact factor 2.456 Mercuri E, Bertini E, Messina S, Pelliccioni M, D’Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord, 2004 Feb;14(2):124-9. Impact factor2.977Mercuri E, Messina S, Kinali M, Cini C, Battini R, Cioni G, Muntoni F. Congenital form of distal spinal muscular atrophy affecting the lower limbs: a common condition in childhood. Neuromuscul Disord 2004 Feb;14(2):130-5. Impact factor3,5Mercuri E, Poppe M, Quinlivan R, Messina S,Kinali M, Demay L,Bourke J,Richard P,Sewry C,Pike M,Bonne G,Muntoni F, Bushby K. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classical Emery-Dreifuss variant. Arch Neurol 2004 May;61(5):690-4. Impact factor6.312Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Pilot trial of salbutamol in minicore and central core diseases. Neuropediatrics 2004;5:262-6. Impact factor1.4Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F. Magnetic resonance imaging of muscle in congenital myopathies associated witjh RYR 1 mutations. Neuromuscul Disord 2004 Dec;14(12):785-790 Impact factor 3,5Vasta I, Kinali M, Messina S, Guzzetta A, Kapellou O, Manzur AY, Cowan F, Muntoni F, Mercuri E . Can clinical signs identify newborns with neuromuscular disorders? J Pediatr. 2005 Jan;146(1):73-9 . Impact factor  4.092Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve 2005 May;31(5):602-9. Impact factor 2.456Toscano A, Messina S, Campo G M, Di Leo R, Musumeci O, Rodolico C, Aguennouz A, Annesi G, Messina C, Vita G. Oxidative stress in myotonic dystrophy type 1. Free Radical Research 2005;39:771-776. Impact factor 2.536Rodolico C, Mazzeo A, Toscano A, Messina S, Aguennouz M, Gaeta M, Messina C, Vita G. Specific matrix metalloproteinase expression in focal myositis: an immunopathological study. Acta Neurol Scand 2005:112;173-177. Impact factor 2.324Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005;65:1930-1935. Impact factor 8.172Rodolico C, Toscano A, Patitucci A, Muglia M, Gaeta M, D'Arrigo G, Migliorato A, Messina S, Quattrone A, Messina C, Vita G. Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci. Neurol Sci. 2005;26:303-309. Impact factor  1.120Messina S, Bitto A, Aguennouz M, Minutoli L, Monici MC, Altavilla D, Squadrito F, Vita G. Nuclear factor kappa-B blockade reduces skeletal muscle degeneration and enhances muscle function in Mdx mice. Exp Neurol. 2006;198:234-41. Impact factor 4.156Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord. 2006;16:93-98.   Impact factor   3,5Messina S, Altavilla D, Aguennouz M, Seminara P, Minutoli L, Monici MC, Bitto A, Mazzeo A, Marini H, Squadrito F, Vita G. Lipid peroxidation inhibition blunts nuclear factor-kappa B activation, reduces skeletal muscle degeneration, and enhances muscle function in mdx mice. Am J Pathol 2006;168:918-26. Impact factor5.917Kinali M, Messina S, Mercuri E, Lehovsky J, Edge G, Manzur AY, Muntoni F. Management of scoliosis in Duchenne Muscular Dystrophy: a large 10-year retrospective study. Dev Med Child Neurology 2006, 48:513-8. Impact factor 3.019Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM. POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord. 2006;16:446-8. Impact factor   3,5Pane M, Vasta I, Messina S, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Ricci E, Mercuri E. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2006;10:231-6. Impact factor  2.007Mercuri E, Bertini E, Messina S, et al. Randomized, double-blind, placebo- controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2007; 68:51-5. Impact factor 8.172Kinali M, Main M, Eliahoo J, Messina S, Knight RK, Lehovsky J, Edge G, Mercuri E, Manzur AY, Muntoni F. Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2007;11(3):160-6. Impact factor  2.007Tiziano F D, Bertini E, Messina S, et al. The Hammersmith functional score correlates with the SMN 2 copy number: a multicentric study. Neuromuscular disorders 2007 ;17:400-3. Impact factor   3,5Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Muller CR, Brown S, Treves S, Muntoni F. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007;2014-36. Impact factor  9.490Messina S, Mazzeo A, Bitto A, Aguennouz M, Migliorato A, De Pasquale MG, Minutoli L, Altavilla D, Zentilin L, Giacca M, Squadrito F, Vita G. VEGF overexpression via adeno-associated virus gene transfer promotes skeletal muscle regeneration and enhances muscle function in mdx mice. FASEB J. 2007 J. 2007 21:3737-46. Impact factor 6.721Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Rutherford M, Muntoni F.Muscle MRI in inherited neuromuscular disorders: past, present and future. Journal of Magnetic Resonance Imaging 2007;25: 433-440. Impact factor 2.770 (su invito)Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Mercuri E. Feeding problems and malnutrition in Spinal Muscular Atrophy type II. Neuromuscul Disord. 2008; 18:389-93. Impact factor   3,5Messina S, Mora M,  Pegoraro E, Pini A, Mongini T, D’Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I,  Pezzani R, Pichiecchio A, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan C.P.,  Uggetti C, Santorelli FM, Bertini E, Mercuri E.  POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromuscul Disord. 2008;18(7):565-71.  Impact factor   3,5Mercuri E, Messina S, Pane M, Bertini E. Current methodological issues in the study of children with inherited neuromuscular disorders. Dev Med Child Neurology 2008. Jun;50(6):417-21. Impact factor  3.019 (su invito).Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord. 2008;18:536-40.  Impact factor   3,5Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K; On behalf of the TREAT-NMD Neuromuscular Network.Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th-13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June-1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France. Neuromuscul Disord. 2008;18:894-903. Impact factor   3,5 Mercuri E*, Messina S*, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802-9. Impact factor 8.172Mazzone ES*, Messina S*, Vasco G, Main M, Eagle M, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Magri F, Corlatti A, Zucchini E, Brancalion B, Rossi F, Ferretti M, Motta MG, Cecio MR, Berardinelli A, Alfieri P, Mongini T, Pini A, Astrea G, Battini R, Comi G, Pegoraro E, Morandi L, Pane M, Angelini C, Bruno C, Villanova M, Vita G, Donati MA, Bertini E, Mercuri E. Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord. 2009 19:458-61.  Impact factor  3,5Padua L, Aprile I, Frusciante R, Iannaccone E, Rossi M, Renna R, Messina S, Frasca G, Ricci E. Quality of Life and Pain in patients with Facioscapulohumeral Muscular Dystrophy. Muscle & Nerve 2009 40:200-5. Impact factor 2.456Messina S, Tortorella G, Concolino D, Spanò M, D’Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E. Congenital muscular dystrophy with defective α-dystroglycan, cerebellar hypoplasia and epilepsy. Neurology 2009 10;73:1599-601. Impact factor 8.172Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S,Mercuri E, Ferlini A, Bonaldo P, Merlini L. Autosomal recessive Bethlem myopathy. Neurology 2009 1;73(22):1883-91. Impact factor 8.172Messina S, Bitto S, Aguennouz M, Mazzeo A, Migliorato A, Polito F, Irrera N, Altavilla D, Vita GL, Russo M, Naro A, De Pasquale MG, Rizzuto E, Musarò A, Squadrito F, Vita G. Flavocoxid counteracts muscle necrosis and improves functional properties in mdx mice: a comparison study with methylprednisolone. Exp Neurol 2009;220:349-358. Impact factor 3.974Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet. 2010;18(1):52-8. Impact factor  3.925Glanzman, AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, Scott C, Pane M, Messina S, Bertini E, Mercuri E andFinkel RS.The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability. Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Ricci E, Rutherford M, Muntoni F. Muscle MRI involvement in muscular dystrophies with rigidity of the spine. Annals of Neurology Feb 2010;67:201-8.. Impact factor 9.935Messina S, Bruno C, Moroni I, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E, Mercuri E. Congenital muscular dystrophies with cognitive impairment: a population study. Neurology 2010;75:898-903. Impact factor 8.172Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, Sanctis RD, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, Waure CD, Bertini E, Mercuri E. North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2010;20:712-6. Impact factor 3,5Tiziano FD, Lo Mastro R, Pinto A, Messina S, D’Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G,Brahe C. Salbutamol increases SMN transcript levels in leukocytes of spinal muscular atrophy patients: relevance for clinical trial design. J Med Genet. 2010;47:856-8. Impact factor 5.751Belcastro V, Galletti F, Giuglietti M, Messina S, Elia M, Prontera P, Calabresi P. Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. Epilepsy Behav. 2010;19:666-8. Impact factor 2.610Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, Sanctis RD, Main M, Eagle M, Florence J, Krosschell K, Vasco G, Pelliccioni M, Lombardo M, Pane M, Finkel R, Muntoni F, Bertini E, Mercuri E. Assessing upper limb function in nonambulant SMA patients: Development of a new module.Neuromuscul Disord. 2011 Jun;21(6):406-12. Impact factor 3,5Aguennouz* M, Vita* GL, Messina S, Cama A, Lanzano N, Ciranni A, Rodolico C, Di Giorgio RM, Vita G. Telomere shortening is associated to TRF1 and PARP1 overexpression in Duchenne muscular dystrophy. Neurobiol Aging 2011, 32: 2190-2197. Impact factor 5.959Messina S, Bitto A, Aguennouz M, Vita GL, Polito F, Irrera N, Altavilla D, Marini H, Migliorato A, Squadrito F, Vita G. The soy isoflavone genistein blunts nuclear factor kappa-B, MAPKs and TNF-α activation and ameliorates muscle function and morphology in mdx mice. Neuromuscul Disord. 2011 Aug;21(8):579-89. Impact factor 3,5Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E. Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study. Neurology. 2011 Jul 19;77(3):250-6. Impact factor 8.172Messina S, Vita GL, Aguennouz M, Sframeli M, Romeo S, Rodolico C, Vita G. Activation of NF-kappaB pathway in Duchenne muscular dystrophy: relation to age. Acta Myol. 2011;30:16-23.Di Rosa G, Messina S, D’Amico A, Bertini E, Pustorino G, Spanò M, Tortorella G. A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features. Epileptic Disord 2011 Sep;13(3):259-62. Impact factor 1.1Messina MF, Messina S, Gaeta M, Rodolico C, Salpietro Damiano AM, Lombardo F, Crisafulli G, De Luca F. Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature. Eur J Paediatr Neurol. 2012 Jan;16(1):90-4. Impact factor 1.994Bello L., Piva L., Barp A., Taglia A., Picillo E., Vasco G., Pane M., Previtali S.C., Torrente Y., Gazzerro E., Motta M.C., Grieco G.S., Napolitano S., Magri F., D'Amico A., Astrea G., Messina S., Sframeli M., Vita G.L., Boffi P., Mongini T., Ferlini A., Gualandi F., Soraru' G., Ermani M., Vita G., Battini R., Bertini E., Comi G.P., Berardinelli A., Minetti C., Bruno C., Mercuri E., Politano L., Angelini C., Hoffman E.P., Pegoraro E. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology. 2012 79(2):159-62. Impact factor 8.172Pane M., Messina S., Vasco G., Foley A.R., Morandi L., Pegoraro E., Mongini T., D'Amico A., Bianco F., Lombardo M.E., Scalise R., Bruno C., Berardinelli A., Pini A., Moroni I., Mora M., Toscano A., Moggio M., Comi G., Santorelli F.M., Bertini E., Muntoni F., Mercuri E. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord. 2012 22(8): 685–689.  Impact factor 3,5Gaeta M, Messina S, Mileto A, Vita GL, Ascenti G, Vinci S, Bottari A, Vita G, Settineri N, Bruschetta D, Racchiusa S, Minutoli F. Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments : Preliminary experience. Skeletal Radiol. 2012 Aug;41(8):955-61. Impact factor 1,4Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.  Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Impact factor 9.9Pane M, Messina S, Bruno C, D'Amico A, Villanova M, Brancalion B, Sivo S, Bianco F, Striano P, Battaglia D, Lettori D, Vita GL, Bertini E, Gualandi F, Ricotti V, Ferlini A, Mercuri E. Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord. 2013 Apr;23(4):313-5. doi: 10.1016/j.nmd.2013.01.011. Impact factor 3,5Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One. 2013;8(1):e52512. doi: 10.1371/journal.pone.0052512. . Impact factor 4,1Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Impact factor 11,7E. Barca, M. Aguennouz, A. Mazzeo, S. Messina, A. Toscano, G. L. Vita, S. Portaro, D. Parisi & C. Rodolico ANT1 is reduced in sporadic inclusion body myositis. Neurological Sciences 2013, 34 (2): 217-224. Impact factor 1,4Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study. Eur J Hum Genet 2013 630-636. Impact factor 4,4Ceravolo F1, Messina S, Rodolico C, Strisciuglio P, Concolino D. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. Eur J Pediatr. 2014;173(2):239-42. doi: 10.1007/s00431-013-2151-z. . Impact factor 1,9Pane M, Mazzone ES, Fanelli L, De Sanctis R, Bianco F, Sivo S, D'Amico A, Messina S, Battini R, Scutifero M, Petillo R, Frosini S, Scalise R, Vita G, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bonfiglio S, Rolle E, Colia G, Catteruccia M, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Morandi L, Bertini E, Politano L, Sormani M, Mercuri E. Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. Neuromuscul Disord. 2014 Mar;24(3):201-6. doi: 10.1016/j.nmd.2013.11.014. Epub 2013 Dec 5. Impact factor 3,5Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E. 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. Impact factor 4,1Orcesi S, Ariaudo G, Mercuri E, Beghi E, Rezzani C, Balottin U; SOLE NMDs Study Group. A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results. J.     J Child Neurol. 2014 Feb;29(2):167-81. doi: 10.1177/0883073813511859. Impact factor 1,4Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D'Angelo MG, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'Amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Motta MC, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Ricci G, Politano L.  “I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy. J Neurol. 2014 Jan;261(1):188-95. doi: 10.1007/s00415-013-7176-8. Impact factor 3,6
A67. Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat Med. 2014 Aug 10. doi: 10.1038/nm.3628. [Epub ahead of print]. Impact factor 28
A68. Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E. Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. PLoS One. 2014 Oct 1;9(10):e108205. doi: 10.1371/journal.pone.0108205. eCollection 2014. Impact factor 4,1
A69. Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, Grazia D'Angelo M, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'Amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Motta MC, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Politano L. Burden, professional support, and social network in families of children and young adults with muscular dystrophies. Muscle Nerve. 2014 Oct 31. doi: 10.1002/mus.24503. Impact factor 2.5
Year 2015
A70. Bianco F, Pane M, D'Amico A, Messina S, Delogu AB, Soraru G, Pera MC, Mongini T, Politano L, Baranello G, Vita G, Tiziano FD, Morandi L, Bertini E, Mercuri E. Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care? Neuropediatrics. 2015 Feb;46(1):33-6. doi: 10.1055/s-0034-1395348. Impact factor 1,4.
A71. Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Prevalence of congenital muscular dystrophy in Italy: A population study. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303.  Impact factor 8.172
A72. Mazzone E, Montes J, Main M, Mayhew A, Ramsey D, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Darras BT, Kaufmann P, Bertini E, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Old measures and new scores in SMA patients. Muscle Nerve. 2015 Jun 25. doi: 10.1002/mus.24748. Impact factor 2.456
A73. Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D'angelo MG, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Chiara Motta M, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Politano L. Burden, professional support, and social network in families of children and young adults with muscular dystrophies. Muscle Nerve. 2015 Jul;52(1):13-21. doi: 10.1002/mus.24503. Impact factor 2.5
A74. Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9 Impact factor 4.2
A75. Barp A, Bello L, Politano L, Melacini P, Calore C, Polo A, Vianello S, Sorarù G, Semplicini C, Pantic B, Taglia A, Picillo E, Magri F, Gorni K, Messina S, Vita GL, Vita G, Comi GP, Ermani M, Calvo V, Angelini C, Hoffman EP, Pegoraro E. Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy. PLoS One. 2015 Oct 29;10(10):e0141240. doi: 10.1371/journal.pone.0141240. eCollection 2015.
A76. Messina S, Bitto A, Vita GL, Aguennouz M, Irrera N, Licata N, Sframeli M, Bruschetta D, Minutoli L, Altavilla D, Vita G, Squadrito F. Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice. Biofactors. 2015 Sep 10;41(5):324-9. doi: 10.1002/biof.1226.  Impact factor 4,6
A77. Pane M, Fanelli L, Mazzone ES, Olivieri G, D'Amico A, Messina S, Scutifero M, Battini R, Petillo R, Frosini S, Sivo S, Vita GL, Bruno C, Mongini T, Pegoraro E, De Sanctis R, Gardani A, Berardinelli A, Lanzillotta V, Carlesi A, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bianco F, Bonfiglio S, Rolle E, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. Neuromuscul Disord. 2015 Oct;25(10):749-53. doi: 10.1016/j.nmd.2015.07.009. 
A78. Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, Casiraghi JL; Italian SMA Family Association. 1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015. Neuromuscul Disord. 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Impact factor  3,5
Year 2016
A 79. Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F; UK NorthStar Clinical Network. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. J Neurol Neurosurg Psychiatry. 2016;87(2):149-55. doi: 10.1136/jnnp-2014-309405.  Impact factor  6.431
A80. Ricotti V, Mandy WP, Scoto M, Pane M, Deconinck N, Messina S, Mercuri E, Skuse DH, Muntoni F. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol.  2016 Jan;58(1):77-84. doi: 10.1111/dmcn.12922. Impact factor  3.615
A81. Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord. 2016 Feb;26(2):126-31.
      Impact factor  3,5
A82. Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group and Telethon Foundation DMD Italian Network. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol. 2016 Feb;79(2):257-71. doi: 10.1002/ana.24555. 
A83. Messina S, Vita GL, Sframeli M, Mondello S, Mazzone E, D'Amico A, Berardinelli A, La Rosa M, Bruno C, Distefano MG, Baranello G, Barcellona C, Scutifero M, Marcato S, Palmieri A, Politano L, Morandi L, Mongini T, Pegoraro E, D'Angelo MG, Pane M, Rodolico C, Minetti C, Bertini E, Vita G, Mercuri E. Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study. Neuromuscul Disord. 2016;26(3):189-96. doi: 10.1016/j.nmd.2016.01.003. Impact factor  3,5
A84. Padua L, Pazzaglia C, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group. Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life. Eur J Neurol. 2016 May 10. doi: 10.1111/ene.13033. [Epub ahead of print] Impact factor  3.956
A85. Russo M, Vita GL, Stancanelli C, Mazzeo A, Vita G, Messina S. Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy. Neuromuscul Disord. 2016 Jun;26(6):374-7. doi: 10.1016/j.nmd.2016.03.006. Impact factor  3,5
A 86. Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
J Mol Neurosci. 2016 Apr 22. [Epub ahead of print] Impact factor  2.352
A 87. Mercuri E; DMD Italian Group. Registries versus tertiary care centers: How do we measure  standards of care in Duchenne muscular dystrophy? Neuromuscul Disord. 2016;26(4-5):261-3. doi: 10.1016/j.nmd.2016.04.001. Impact factor  3,5
A88. Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D'Amico A, Colia G, Fanelli L, Berardinelli A, Gardani A, Lanzillotta V, D'Ambrosio P, Petillo R, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Forcina N, Magri F, Vita G, Palermo C, Donati MA, Procopio E, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Torrente Y, Previtali SC, Bruno C, Politano L, Comi GP, D'Angelo MG, Bertini E, Mercuri E. Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study. PLoS One. 2016 Mar 16;11(3):e0151445. doi: 10.1371/journal.pone.0151445. eCollection 2016. Impact factor  4.1
A89. Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. Impact factor 5.4
A90. Bitto A, Pallio G, Messina S, Arcoraci V, Pizzino G, Russo GT, Pallio S, Squadrito F, Altavilla D. Genomic Variations Affecting Biological Effects of Statins. Curr Drug Metab. 2016;17(6):566-72. Impact factor 2.976
A91. Russo M, Vita GL, Stancanelli C, Mazzeo A, Vita G, Messina S. Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy. Neuromuscul Disord. 2016 Jun;26(6):374-7. doi: 10.1016/j.nmd.2016.03.006, Impact factor  3,5
A92. Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis. 2016 Jul 7;11(1):91. Impact factor 3.29
A93. Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800.  Impact factor 8.286
A94. Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. TBK1 is associated with ALS and ALS-FTD in Sardinian patients. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Impact factor 5.96
A95. Vita G, La Foresta S, Russo M, Vita GL, Messina S, Lunetta C, Mazzeo A. Sport activity in Charcot-Marie-Tooth disease: A case study of a Paralympic swimmer. Neuromuscul Disord. 2016 Jun 7. pii: S0960-8966(16)30165-1. doi: 10.1016/j.nmd.2016.06.002. [Epub ahead of print] Impact factor  3,5
A96. Mercuri E, Signorovitch JE, Swallow E, Song J, Ward SJ; DMD Italian Group; Trajectory Analysis Project (cTAP). Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2016 May 27. pii: S0960-8966(16)30076-1. doi: 10.1016/j.nmd.2016.05.016. [Epub ahead of print] Impact factor  3,5
A 97. Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Dunaway Young S, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle Nerve. 2016 Oct 4. doi: 10.1002/mus.25430. Impact factor 2.7
A98. Bettica P, Petrini S, D'Oria V, D'Amico A, Catteruccia M, Pane M, Sivo S, Magri F, Brajkovic S, Messina S, Vita GL, Gatti B, Moggio M, Puri PL, Rocchetti M, De Nicolao G, Vita G, Comi GP, Bertini E, Mercuri E. Histological effects of givinostat in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2016 Oct;26(10):643-649. doi: 10.1016/j.nmd.2016.07.002. Impact factor  3.5
A99. Mercuri E, Coratti G, Messina S, Ricotti V, Baranello G, D'Amico A, Pera MC, Albamonte E, Sivo S, Mazzone ES, Arnoldi MT, Fanelli L, De Sanctis R, Romeo DM, Vita GL, Battini R, Bertini E, Muntoni F, Pane M. Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy. PLoS One. 2016 Aug 5;11(8):e0160195. doi: 10.1371/journal.pone.0160195. eCollection 2016. Impact factor  4.1
A100. Klingels K, Mayhew AG, Mazzone ES, Duong T, Decostre V, Werlauff U, Vroom E, Mercuri E, Goemans NM; Upper Limb Clinical Outcome Group. Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM. Dev Med Child Neurol. 2016 Sep 26. doi: 10.1111/dmcn.13277. [Epub ahead of print] Impact factor  3.6
A101. Catalano A, Vita GL, Russo M, Vita G, Lasco A, Morabito N, Messina S. Effects of teriparatide on bone mineral density and quality of life in Duchenne muscular dystrophy related osteoporosis: a case report. Osteoporos Int. 2016 Sep 2. [Epub ahead of print] Impact factor  3.4
 
 
*Both Authors equally contributed.