BIOGRAPHICAL SKETCH

NAME: Valeria A Sansone

eRA COMMONS USER NAME: Sansone VA

POSITION TITLE: Full Professor of Neurology at the University of Milan, Clinical and Scientific Director of the NEMO Center in Milan, Italy

EDUCATION/TRAINING

1. Personal Statement

I have had experience in neuromuscular disorders both from a clinical and basic science point of view since the first years of Medical School, initially working in basic research regarding ion channel modulation  in vitro using the patch-clamp technique. I have then switched to clinical research in ion channel disorders since the first years of residency. For the past 22 years I have been in charge of in-patients with muscle disorders at the University Department of Neurology in Milan and I have also been in charge of the State-run out-patient neuromuscular clinic at the Hospital Site. My main field of research has been the myotonic disorders, especially the myotonic dystrophies, and DM2 has been the topic of my PhD. Since 2010 I have worked as a CINCH site co-PI (International Consortium for Inherited Channelopathies), recruiting subjects for clinical studies. These clinical studies have given me experience in conducting clinical trials, in overcoming obstacles to patient recruitment and retention, in addressing challenges of drug supply, pursuing US, Italian and local regulatory approvals and working productively with clinical study groups. Since I became Clinical Director of the NEMO Center in 2013, I have extended my field of research in other muscular dystrophies including Duchenne and Becker Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy (FSHD) and motor neuron diseases like Amyotrophic Lateral Sclerosis and pediatric and adult forms of Spinal Muscular Atrophy. Since 2019 I am the Scientific Director of the Nemo Clinical Research Center  (CRC) at the NEMO Center in Milan, a dedicated university neurorehabilitation unit for neuromuscular patients and I am Faculty (Full Professor of Neurology) at the University of Milan since 2006. I am PI of a large number of phase 1, 2, 3 RCTs and observational studies in the neuromuscular field with successful recruitment and retention rates.

B.         Positions and Honors

Positions and Employment

1995-2013: Assistant Professor in the Department of Neurology (Chair: Prof. Meola) at IRCCS Policlinico San Donato. In-patient and emergency department duties as Consultant Neurologist. In charge of the Hospital’s Neuromuscular Clinic.

Since 2006: Faculty at the University of Milan in the Department of Neurology, since 2020 she is Full Professor of Neurology

Since 2013: Clinical Director of the NEMO Clinical Center in Milan, a dedicated neuromuscular clinical center for in- and out-patients with neuromuscular diseases of all ages and at all stages of the disease process. The NEMO Center includes 20 in-patient beds for kids and adults, including 6 beds for semi-intensive care and neurology, rehabilitation, child neurology and pulmonology out-patient clinics.

Since 2018: Member of the Executive Committee for the MSG Study Group, serving as an MSG Investigator on the council.

Other Experience and Professional Memberships

1987-1991: training in cell physiology at the University of Milan at the Institute of Physiology (Chair: Prof. M. Mancia)

1989 (October-November): training in the Neurophysiology Lab in Turin working on patch-clamp techniques in calcium channels at the Department of Anatomy and Human Physiology (Chair: Prof. E. Carbone),

1990 (September-November): training in the Neurophysiology Lab at the Insitute of Biophysics and Biochemistry at the Max Planck Institute in Gottingen, Germany

1991 (March-September): training in the muscle cell culture lab in Milan (Chair: Prof. Meola)

Honors

1990-1991: Grant from the University of Milan to study cell physiology

3. Contribution to Science

In-vitro studies

My early publications addressed modulation of voltage-gated ion channels using the whole-cell patch-clamp technique, which I learnt first at the Human Physiology Institute, University of Milan (Prof. M Mancia, dr A Formenti), then at the University of Turin (Prof. Carbone’s cell physiology lab) and finally at the Max Planck Institutes in Gottingen and Munich (Prof. Swandulla cell physiology lab). I then moved from voltage-gated ion channel cell physiology to normal and muscle diseased cell cultures.

1. Channelopathies

After the initial studies in vitro, I moved to studies of ion channel pathology in neuromuscular disorders and I have had experience with patients with periodic paralysis, actively contributing to the definition of the clinical picture of patients with Andersen Tawil’s syndrome and with patients with sodium or chloride non-dystrophic myotonias. I have been PI for the University of Milan in the trial of dichlophenamide versus placebo in the periodic paralysis which finally led to FDA approval of the drug. Most recent publications:

1. Sansone VA et al.  Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis, Neurology, 2016 Apr 12;86(15):1408-16.
2. Sansone VA. The Dystrophic and Nondystrophic Myotonias.Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915.
3. Ardissone A, Sansone V, Colleoni L, Bernasconi P, Moroni I. Intrafamiliarl phenotypic   variability in Andersen-Tawil syndrome: a diagnostic challenge in a potentially treatable condition. Neuromuscul Disord. 2017 Mar;27(3):294-297.
4. Statland JM, Fontaine B, Hanna MG, Johnson N, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC. A Review of the Diagnosis and Treatment of Periodic Paralysis. Muscle Nerve. 2018 Apr;57(4):522-530.Review.
5. Sansone VA. Episodic Muscle Disorders. Continuum (Minneap Minn). 2019 Dec;25(6):1696-1711.
6. Stunnenberg B, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen B, Vicart S, Statland JM. Guidelines on clinical presentation and management of non-dystrophic myotonias. Muscle Nerve. 2020 Apr 8. doi: 10.1002/mus.26887
7. Pagliarani S, Lucchiari S, Scarlato M, Redaelli E, Modoni A, Magri F, Fossati B, Previtali SC, Sansone VA, Lecchi M, Lo Monaco M, Meola G, Comi GP. Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na_v1.4. Front Neurol. 2020 Apr 29;11:255.
8. Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. J Am Coll Cardiol. 2020 Apr 21;75(15):1772-1784.
9. Maffè S, Paffoni P, Bergamasco L, Dellavesa P, Zenone F, Baduena L, Franchetti Pardo N, Careri G, Facchini E, Sansone V, Parravicini U. Therapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome. J Electrocardiol. 2020 Jan-Feb;58:37-42.
10. Dolci C, Sansone VA, Gibelli D, Cappella A, Sforza C. Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis. Am J Med Genet A 2021 Mar;185(3):781-789
11. Sansone VA, Johnson NE, Hanna MG, Ciafaloni E, Statland JM, Shieh PB, Cohen F, Griggs RC. Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis.

Muscle Nerve. 2021 Sep;64(3):342-346. doi: 10.1002/mus.27354. Epub 2021 Jul 9

12. Auranen M, Kristi G, Gutiérrez- Gutiérrez, Vasilios K. Kimiskidis, Jordi Diaz Manera, Meola G, Pereon Y, Sansone V, Schneider- Gold C. Improving The Management of Non-dystrophic Myotonia to Benefit Care Delivery and Improve Patient Outcomes. EMJ Neurol. 2022;10[1]:66-77. DOI/10.33590/ emjneurol/10008439. https://doi.org/10.33590/ emjneurol/10008439.
13. Matthews E, Palace J, Ramdas S, Sansone V, Tristani-Firouzi M, Vicart S, Willis T. Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies. Review Pediatr Neurol 2023 Aug:145:102-111.doi: 10.1016/j.pediatrneurol.2023.05.012. Epub 2023 May 19.
14. Lidonnici D, Brambilla P, Ravasio R, Zozulya-Weidenfeller A, Beiderbeck A, van Aswegen M, Oliveira R, Sansone VA.  Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy. J Neuromuscul Dis. 2024;11(2):411-423
15.  Sansone VA, Dang UJ, Edmondson L, Díaz-Manera J, Nikolenko N, Ashley EJ, Bassez G, Gagnon C, Montagnese F, Osman H, Tard C, Nowak U, Turner C, Zozulya-Weidenfeller A. Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey. BMC Neurol 2026 Jun 16;26(1):538. doi: 10.1186/s12883-026-05002-4
16.  

Myotonic Dystrophies

My main field of interest are the myotonic dystrophies and more specifically I have focused on the multisystem involvement of these disorders, with special interest in the cognitive, cardiac and more recently the respiratory muscle involvement both in type 1 and type 2 Myotonic Dystrophy, defining the clinical picture and potential outcome measures to be used in clinical trials. Most recent publications:

1. Sansone VA, Gagnon C participants of the 207th ENMC Workshop. 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27-29 June 2014, Naarden, The Netherlands.Neuromuscul Disord. 2015 May;25(5):432-42. doi: 10.1016/j.nmd.2015.01.011. Epub 2015 Feb 3.
2. Passeri E, Bugiardini E, Sansone VA et al.  Gonadal failure is associated with visceral adiposity in myotonic dystrophies. Eur J Clin Invest. 2015 May 7  doi: 10.1111/eci.12459.
3. Dozio E, Passeri E, Cardani R, Benedini S, Aresta C, Valaperta R, Corsi Romanelli M, Meola G, Sansone V and Corbetta S. Circulating irisn is reduced in male patients with type 1 and type 2 Myotonic Dystrophies. Frontiers in Endocrinology, 14 November 2017.
4. Wood L, Bassez G, van Engelen B, Lochmuller H, Schoser B on behalf of the 222nd ENMC participants (Sansone VA). Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. Neuromuscular Disorders 2018.
5. Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec;8(6):507-520.
6. Nicholas E. Johnson, Eugenio Zapata Aldana, Nathalie Angeard, Tetsuo Ashizawa, Kiera N. Berggren, Chiara Marini-Bettolo, Tina Duong, Anne-Berit Ekström, Valeria Sansone, Cuixia Tian, Leah Hellerstein, Craig Campbell, on behalf of the Myotonic Dystrophy Foundation. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. Neurol Clin Pract. 2019 April 24.
7. Passeri E, Sansone VA, Sconfienza LM et al. Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy. Neuromuscul Disord. 2020 Jan;30(1):28-34.
8. Boentert M, Cao M, Mass D, De Mattia E, Falcier E, Goncalves M, Holland V, Katz SL, Orlikowski D, Sannicolò G, Wijkstra P, Hellerstein L, Sansone VA.  Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1. Respiration. 2020;99(4):360-368. 
9. De Ambroggi G, Ali H, Cappato R, Sansone VA, De Ambroggi L. A 10-year follow-up of a patient affected by myotonic dystrophy type 1 with implantable cardioverter-defibrillator implanted for secondary prevention. J Cardiovasc Med (Hagerstown). 2020 Feb;21(2):150-152
10. De Mattia E, Lizio A, Falcier E, Sannicolò G, Gualandris M, Rossi G, Zanolini A, Pozzi S, Messina S, Sframeli M, Lunetta C, Rao F, Sansone VA. Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire. Neuromuscul Disord. 2020 Apr;30(4):301-309.
11. Quigg KH, Berggren KN, McIntyre M, Bates K, Salmin F, Casiraghi JL, D’Amico A, Astrea G, Ricci F, McKay MJ, Baldwin JN, Burns J, Campbell C, Sansone VA, and Johnson NE: 12-Month Progression of Motor and Functional Outcomes in Congenital Myotonic Dystrophy. Muscle & Nerve. Muscle Nerve 2021 Mar;63(3):384-391.doi: 10.1002/mus.27147
12. Sansone VA, Proserpio P, Mauro L, Biostat AL, Frezza E, Lanza A, Rogliani P, Pezzuto G, Falcier E, Aggradi CF, Pirola A, Rao F, Roma E, Galluzzi C, Spanetta M, Cattaneo F, Rubino A, Agostoni EC, Amico F, Zanolini A, Izzi F, Greco G, Romigi A, Liguori C, Nobili L, Placidi F, Massa R. Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1. J Clin Sleep Med. 2021 Dec 1;17(12):2383-2391. doi: 10.5664/jcsm.9438.
13. Liguori C, Spanetta M, Fernandes M, Placidi F, Massa R, Romigi A, Izzi F, Mauro L, Greco G, Frezza E, Cattaneo F, Rubino A, Agostoni EC, Nobili L, Mercuri NB, Sansone VA, Proserpio P. The actigraphic documentation of circadian sleep-wake rhythm dysregulation in myotonic dystrophy type 1. Sleep Med. 2021 Dec;88:134-139. doi: 10.1016/j.sleep.2021.10.003.
14. Carola R. Ferrari Aggradi,Elisa Falcier,Andrea Lizio,Alice Pirola ,Jacopo Casiraghi,Alice Zanolini, Elena Carraro,Luca Mauro,Fabrizio Rao,Elisabetta Roma,Antonino Iannello, Elisa De Mattia,Andrea Barp,Sara Lupone,Valentina Gatti,Cristina Italiano and Valeria A. Sansone. Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center. Hindawi Canadian Respiratory Journal Volume 2022, Article ID 2321909, 11 pages https://doi.org/10.1155/2022/2321909
15. Scarano S, Sansone VA, Ferrari Aggradi CR, Carraro E, Tesio L, Amadei M, Rota V, Zanolini A, Caronni A. Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit. Front Hum Neurosci. 2022 Jul 28;16:925299. doi: 10.3389/fnhum.2022.925299.
16. Lizio A, Pirola A, Ferrari CRA, Mauro L, Falcier E, Sansone VA. Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1. Neurol Sci. 2023 Jan 25. doi: 10.1007/s10072-023-06631-0. 
17. Sansone VA. Antisense oligonucleotides in myotonic dystrophy type 1: lessons learnt. Lancet Neurol. 2023 Mar;22(3):191-192
18. Scarano S, Caronni A, Carraro E, Ferrari Aggradi CR, Rota V, Malloggi C, Tesio L, Sansone VA. In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception. J Clin Med. 2024 Aug 9;13(16):4685.
19. Trucco F, Lizio A, Roma E, di Bari A, Salmin F, Albamonte E, Casiraghi J, Pozzi S, Becchiati S, Antonaci L, Salvalaggio A, Catteruccia M, Tosi M, Marinella G, Danti FR, Bruschi F, Veneruso M, Parravicini S, Fiorillo C, Berardinelli A, Pini A, Moroni I, Astrea G, Battini R, D'Amico A, Ricci F, Pane M, Mercuri EM, Johnson NE, Sansone VA. Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.J Clin Med. 2024 Sep 14;13(18):5459.
20. Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA; DM1 Paediatric Working Group. Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1. Dev Med Child Neurol. 2025 Mar;67(3):365-373
21. Mul K, Eichinger K, Hung M, Sansone VA, Gagnon C, Subramony S, Roxburgh RH, Hamel J, Statland JM, Elsheikh B, Turner C, Sampson J, Ragole T, Matthews E, Schoser B, Swenson A, Laverty C, Shieh P, Greene EP, Takahashi M, Wicklund M, Dekdebrun J, Raymond J, DeSpain E, Thornton CA, Johnson NE; Myotonic Dystrophy Clinical Research Network. Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study PLoS One. 2025 Dec 11;20(12):e0331163. doi: 10.1371/journal.pone.0331163
22.  Alberti C, Parente V, Corti S, Sansone VA. From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy. Neurobiol Dis 2025 Dec:217:107192. doi: 10.1016/j.nbd.2025.107192.
23.  Pozzi S, Sweere DJ, Trucco F, Johnson NE, Sansone VA; Workshop Study Group. 284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025. Neuromuscul Disord 2025 Nov:56-57:106252. doi: 10.1016/j.nmd.2025.106252
24.  Leeuwenberg KE, Sansone VA, Hamel J, Hung M, Dekdebrun JM, Lizio A, Eichinger K, Gagnon C, Roxburgh RH, Subramony SH, Statland JM, Elsheikh BH, Turner C, Matthews EL, Ragole TE, Sampson JB, Schoser B, Takahashi MP, Wicklund MP, Swenson AJ, Laverty CG, Shieh PB, Greene EP, Raymond J, DeSpain E, Thornton CA, Mul K, Johnson NE; Myotonic Dystrophy Clinical Research Network. Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1. Neurology. 2026 Apr 14;106(7):e214747. doi: 10.1212/WNL.0000000000214747
25.  la Fontaine LA, van As D, Bassez G, Johnson NE, Faber CG, Hoen PAC'; 287th ENMC workshop participants. 287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025 Neuromuscul Disord. 2026 Jan;58:106257. doi: 10.1016/j.nmd.2025.106257.
26.  Sansone VA, Lizio A, Ferrari Aggradi CR, Greco LC, Gagnon C, Subramony S, Roxburgh RH, Mul K, Hamel J, Eichinger K, Hung M, Statland JM, Turner C, Elsheikh B, Schoser B, Ragole T, Matthews E, Sampson J, Takahashi MP, Wicklund M, Swenson A, Laverty CG, Shieh P, Greene EP, Beretta M, Casiraghi JL, Dekdebrun J, Raymond J, Langeslay R, DeSpain E, Thornton CA, Heatwole C, Johnson NE; Myotonic Dystrophy Clinical Research Network. Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1. Muscle Nerve. 2026 Jul;74(1):187-197. doi: 10.1002/mus.70277
27. Kiefer M, Hartman JM, Berggren KN, Butler A, Jones AS, McIntyre M, Hung M, Carrell S, Hale MA, Campbell C, Sansone VA, Johnson NE.  Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in Childhood

Neurol Genet. 2026 Apr 1;12(2):e200363. doi: 10.1212/NXG.0000000000200363

Spinal Muscular Atrophy

Since 2013, and more specifically since 2016 I have focused on clinical care and research in SMA of all types, including treatment with nusinersen as 1 of the 5 centers involved in the Expanded Access Program in Italy. The NEMO Center takes care of more than 150 patients with SMA and of these 52 patients are on treatment with nusinersen at our site, including adults. The NEMO Center in Milan is part of a pediatric network including the NEMO Center in Rome and in Messina (network coordinator Prof. Mercuri, site coordinator VA Sansone).

1. Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, CrescimannoG, Casiraghi JL on behalf of the Italian SMA Family Association. 1st Italian SMA Family Association Consensus Meeting:  Jan 30th-31st 2015, Rome, Italy. Management and Recommendations for Respiratory Involvement in Spinal Muscular Atrophy (SMA) types I, II, III. Neuromuscul Disord 2015 Dec;25(12):979-89. doi: 10.1016/j.nmd.2015.09.009. Epub 2015 Sep 18 I.F 2.969
2. Messina S, Pane M, Sansone V, et al. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience. Neuromuscul Disord. 2017 Sep 21. pii: S0960-8966(17)31211-7. doi: 10.1016/j.nmd.2017.09.006 I.F 2.969
3. Pane M, Palermo C, Messina S, Sansone VA, et al. Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. Neuromuscul Disord. 2018 Jun 1. pii: S0960-8966(18)30283-9. doi: 10.1016/j.nmd.2018.05.010 I.F 2.969
4. Pane M, Palermo C, Messina S, Sansone VA, et al. An observational study of functional abilities in infants, children, and adults with type 1 SMA. Neurology. 2018 Aug 21;91(8):e696-e703
5. Sansone VA, Pane M, Messina S et al.  A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues". Letter to the Editor of Eur J Paediatr Neurol. 2018 Jul;22(4):729-731.
6. Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Genet. 2019 Mar;138(3):241-256
7. Sansone VA, Albamonte E, Salmin F et al. Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care. Neurol Sci. 2019 Feb;40(2):327-332
8. Salmin F, Albamonte E, Morettini V, Gagliano N, Mercuri E, Sansone VA. after nusinersen treatment in an infant with Spinal Muscular Atrophy.Muscle Nerve. 2019 Feb 27. doi: 10.1002/mus.26457
9. Pane M, Coratti G, Sansone VA et al.  Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. Ann Neurol. 2019 Sep;86(3):443-451. doi: 10.1002/ana.25533. Epub 2019 Jul 8.PMID: 31228281
10. De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019 Nov;29(11):842-856
11. Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; Sansone VA as part of iSMAC Group.Development of an academic disease registry for spinal muscular atrophy. Neuromuscul Disord. 2019 Oct;29(10):794-799.
12. Sansone VA, Pirola A, Albamonte E et al. Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen. J Pediatr. 2020 Apr;219:223-228.
13. Sansone VA, Mercuri E. Reply. J Pediatr. 2020 May 3:S0022-3476(20)30573-4. doi: 10.1016/j.jpeds.2020.04.069.
14. Pera MC, Coratti G, Berti B, D'Amico A, Sframeli M, Albamonte E, de Sanctis R, Messina S, Catteruccia M, Brigati G, Antonaci L, Lucibello S, Bruno C, Sansone VA, Bertini E, Tiziano D, Pane M, Mercuri E. Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? PLoS One. 2020 Mar 23;15(3):e0230677.
15. Brogna C, Cristiano L, Verdolotti T, Pichiecchio A, Cinnante C, Sansone V, Sconfienza LM, Berardinelli A, Garibaldi M, Antonini G, Pane M, Pera MC, Antonaci L, Ficociello L, Albamonte E, Tasca G, Begliuomini C, Tartaglione T, Maggi L, Govoni A, Comi G, Colosimo C, Mercuri E. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients. J Neurol. 2020 Apr;267(4):898-912.
16. Mercuri E, Sansone V. Nusinersen in adults with spinal muscular atrophy: new challenges. Lancet Neurol. 2020 Apr;19(4):283-284. doi: 10.1016/S1474-4422(20)30068-5.
17. Barp A, Carraro E, Albamonte E, Salmin F, Lunetta C, Comi GP, Messina C, Albano D, Chianca V, Sconfienza LM, Mercuri EM, Sansone VA. Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up. Journal of the Neurological Sciences 2020;417; 117067
18. Sansone VA, Coratti G, Pera MC, Pane M, Messina S, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, d'Amico A, Frongia AL, Antonaci L, Pirola A, Pedemonte M, Bertini E, Bruno C, Mercuri E; Italian ISMAC group. Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen. Eur J Neurol. 2021 Feb;28(2):602-608
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62.  Malandrini F, Spataro C, Meregaglia M, Sansone V, D'amico A, Scopinaro A, Ciani O. Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes. Neurol Sci 2026 Feb 13;47(3):254. doi: 10.1007/s10072-025-08600-1
63.  Corti S, Gadaleta G, Bitetti I, Crescimanno G, D'Amico A, Dosi C, Masson R, Patanella AK, Pera MC, Rao F, Ricci F, Ricci G, Risi B, Roma E, Ruggiero L, Sframeli M, Coratti G, Pane M, Sansone VA; participants in the 2025 SMAkers workshop. Workshop report: Findings from the 2025 Italian SMAkers Educational Initiative on SMA management in Italy.  J Neurol Sci. 2026 Apr 15;483:125835. doi: 10.1016/j.jns.2026.125835
64.  Colot C, Trucco F, Ruiz Chicaiza P, Everaert E, Muys S, Tahon V, Van Himme L, Devos E, Vanlander A, Lizio A, Salmin F, Coratti G, Albamonte E, Stanca G, Pane M, Mercuri E, Sansone V, Deconinck N. Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI. J Neuromuscul Dis. 2026 Mar 13:22143602261433495. doi: 10.1177/22143602261433495

Amyotrophic Lateral Sclerosis

Most significant contributions:

1. Lunetta C, Lizio A, Melazzini MG, Maestri E and Sansone VA. Amyotrophic Lateral Sclerosis Survival Score (ALS-SS): a simple and useful scoring system for early prediction of patient survival. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Journal 2015;17(1-2):93-100. doi: 10.3109/21678421.2015.1083585. Epub 2015 Oct 16. I.F 3.054
2. Marconi A, Gragnano G, Lunetta C, Gatto R, Fabiani V, Tagliaferri A, Rossi G, Sansone V, Pagnini F.The experience of meditation for people with amyotrophic lateral sclerosis and their caregivers - a qualitative analysis. Psychol Health Med. 2015 Nov 20:1-7. I.F 1.5
3. Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Drago Ferrante G, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Poletti B, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J. Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort. J Neurol. 2017 Nov;264(11):2224-2231. doi: 10.1007/s00415-017-8619-4. Epub 2017 Sep 15 . I.F 3.389
4. Calvo A, Moglia C, Lunetta C, Marinou K, Ticozzi N, Ferrante GD, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Riva N, Logroscino G, Messina S, Fini N, Mandrioli J. Factors predicting survival in ALS: a multicenter Italian study. J Neurol. 2017 Jan;264(1):54-63. doi: 10.1007/s00415-016-8313-y. Epub 2016 Oct 24 . I.F 3.389
5. De Mattia E, Iatomasi M, Garabelli B, Lunetta C, Sansone VA, Rao F. Use of the Intermittent Abdominal Pressure Ventilation to guarantee speech in a tracheostomized Amyotrophic Lateral Sclerosis patient. Rev Port Pneumol (2006). 2017 Jul - Aug;23(4):236-239. doi: 10.1016/j.rppnen.2017.03.002. Epub 2017 May 31. I.F 1.560
6. Mandrioli J, Michalke B, Solovyev N, Grill P, Violi F, Lunetta C, Conte A, Sansone VA, Sabatelli M, Vinceti M. Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations. Neurodegener Dis 2017;17:171–180 DOI: 10.1159/000460253 I.F 2.842
7. Lunetta C, Lizio A, Maestri E, Sansone VA, Mora G, Miller RG, Appel SH, Chiò A. Serum C-Reactive Protein as a Prognostic Biomarker in Amyotrophic Lateral Sclerosis. JAMA Neurol. 2017 Apr 3. doi: 10.1001/jamaneurol.2016.6179 I.F 10.03
8. Pagnini F, Marconi A, Tagliaferri A, Manzoni GM, Gatto R, Fabiani V, Gragnano G, Rossi G, Volpato E, Banfi P, Palmieri A, Graziano F, Castelnuovo G, Corbo M, Molinari E, Riva N, Sansone V, Lunetta C. Meditation training for people with amyotrophic lateral sclerosis: a randomized clinical trial. Eur J Neurol. 2017 Apr;24(4):578-586. . I.F 3.988
9. De Mattia E, Falcier E, Lizio A, Lunetta C, Sansone VA et al. Passive Versus Active Circuit During Invasive Mechanical Ventilation in Subjects With Amyotrophic Lateral Sclerosis. Respir Care. 2018 May 15. pii: respcare.05866. doi: 10.4187/respcare.05866. [Epub ahead of print]
10. Mandrioli J, Ferri L, Fasano A, Zucchi E, Fini N, Moglia C, Lunetta C, Marinou K, Ticozzi N, Drago Ferrante G, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Chiò A, Riva N, Logroscino G, Messina S, Calvo A. Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis. Eur J Neurol. 2018 Jun;25(6):861-868.
11. Bassola B, Sansone VA, Lusignani M. Being Yourself and Thinking About the Future in People With Motor Neuron Disease: A Grounded Theory of Self-care Processes. J Neurosci Nurs. 2018 Jun;50(3):138-143.
12. Lunetta C, Lizio A, Tremolizzo L, Ruscica M, Macchi C, Riva N, Weydt P, Corradi E, Magni P, Sansone V. Serum irisin is upregulated in patients affected by amyotrophic lateral sclerosis and correlates with functional and metabolic status. J Neurol. 2018 Dec;265(12):3001-3008
13. Tarlarini C, Greco LC, Lizio A, Gerardi F, Sansone VA, Lunetta C. Taste changes in amyotrophic lateral sclerosis and effects on quality of life. Neurol Sci. 2019 Feb;40(2):399-404.
14. Garuti G, Rao F, Ribuffo V, Sansone VA. Sialorrhea in patients with ALS: current treatment options. Degener Neurol Neuromuscul Dis. 2019 Mar 20;9:19-26.
15. Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Ferro C, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J. Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients. Front Neurosci. 2019 May 17;13:485.
16. Pirola A, De Mattia E, Lizio A, Sannicolò G, Carraro E, Rao F, Sansone V, Lunetta C. The prognostic value of spirometric tests in Amyotrophic Lateral Sclerosis patients. Clin Neurol Neurosurg. 2019 Sep;184:105456.
17. Riva N, Mora G, Sorarù G, Lunetta C, Ferraro OE, Falzone Y, Leocani L, Fazio R, Comola M, Comi G; Sansone VA as part of CANALS Study Group. Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. Lancet Neurol. 2019 Feb;18(2):155-164.
18. Bona S, Donvito G, Cozza F, Malberti I, Vaccari P, Lizio A, Greco L, Carraro E, Sansone VA, Lunetta C. The development of an augmented reality device for the autonomous management of the electric bed and the electric wheelchair for patients with amyotrophic lateral sclerosis: a pilot study..Disabil Rehabil Assist Technol. 2019 Nov 5:1-7
19. Tremolizzo L, Lizio A, Santangelo G, Diamanti S, Lunetta C, Gerardi F, Messina S, La Foresta S, Riva N, Falzone Y, Filippi M, Woolley SC, Sansone VA, Siciliano M, Ferrarese C, Appollonio I; ALS-CBS Italian Study Group. ALS Cognitive Behavioral Screen (ALS-CBS): normative values for the Italian population and clinical usability. Neurol Sci. 2020 Apr;41(4):835-841.
20. Scarlino S, Domi T, Pozzi L, Romano A, Pipitone GB, Falzone YM, Mosca L, Penco S, Lunetta C, Sansone V, Tremolizzo L, Fazio R, Agosta F, Filippi M, Carrera P, Riva N, Quattrini A. Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort. Int J Mol Sci. 2020 May 8;21(9):E3346.
21. Barp A, Gerardi F, Lizio A, Sansone VA, Lunetta C. Emerging Drugs for the Treatment of Amyotrophic Lateral Sclerosis: A Focus on Recent Phase 2 Trials. Expert Opinion on Emerging Drugs, DOI: 10.1080/14728214.2020.1769067 Expert Opinion on Emerging Drugs 2020 ahead of print
22. Barp A, Sansone VA, Lunetta C. Challenges in diagnosis of motor neuron disease: A case series of ALS mimic syndromes. Rev Neurol 2021 ahead of print
23. Cozza F, Lizio A, Greco LC, Bona S, Donvito G, Carraro E, Tavazzi S, Ticozzi N, Poletti B, Sansone VA, Lunetta C. Ocular Involvement Occurs Frequently at All Stages of Amyotrophic Lateral Sclerosis: Preliminary Experience in a Large Italian Cohort. J Clin Neurol. 2021 Jan;17(1):96-105
24. Lanteri P, Meola I, Canosa A, De Marco G, Lomartire A, Rinaudo MT, Albamonte E, Sansone VA, Lunetta C, Manera U, Vasta R, Moglia C, Calvo A, Origone P, Chiò A, Mandich P. The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment. Neurobiol Aging. 2021 Feb 3:S0197-4580(21)00036-1.
25. Russo M, Lunetta C, Zuccarino R, Vita GL, Sframeli M, Lizio A, La Foresta S, Faraone C, Sansone VA, Vita G, Messina S. The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis. Sci Rep. 2020 Sep 23;10(1):15580.
26. Lunetta C, Lizio A, Gerardi F, Tarlarini C, Filippi M, Riva N, Tremolizzo L, Diamanti S, Dellanoce CC, Mosca L, Sansone VA, Campolo J. Urinary neopterin, a new marker of the neuroinflammatory status in amyotrophic lateral sclerosis. J Neurol 2020 Dec;267(12):3609-3616
27. Schito P, Ceccardi G, Calvo A, Falzone YM, Moglia C, Lunetta C, Marinou K, Ticozzi N, Scialo C, Sorarù G, Trojsi F, Conte A, Tortelli R, Russo M, Zucchi E, Pozzi L, Domi T, Carrera P, Agosta F, Quattrini A, Fazio R, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Tedeschi G, Sabatelli M, Logroscino G, Messina S, Mandrioli J, Riva N, Filippi M. Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study. J Neurol Neurosurg Psychiatry 2020 Sep;91(9):1001-1003
28. Barp A, Lizio A, Gerardi F, Tarlarini C, Mauro L, Sansone VA, Lunetta C. Neurophysiological indices in amyotrophic lateral sclerosis correlate with functional outcome measures, staging and disease progression. Clin Neurophysiol 2021 Jul;132(7):1564-1571
29. Cattaneo M, Jesus P, Lizio A, Fayemendy P, Guanziroli N, Corradi E, Sansone V, Leocani L, Filippi M, Riva N, Corcia P, Couratier P, Lunetta C. The hypometabolic state: a good predictor of a better prognosis in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):41-47. doi: 10.1136/jnnp-2021-326184.
30. Lunetta C, Lizio A, Cabona C, Gerardi F, Sansone VA, Corbo M, Scialò C, Angelucci E, Gualandi F, Marenco P, Grillo G, Cairoli R, Cesana C, Saccardi R, Melazzini MG, Mancardi G, Caponnetto C. A phase I/IIa clinical trial of autologous hematopoietic stem cell transplantation in amyotrophic lateral sclerosis. J Neurol. 2022 May 21. doi: 10.1007/s00415-022-11185-w. 
31. Greco LC, Lizio A, Casiraghi J, Sansone VA, Tremolizzo L, Riva N, Solca F, Torre S, Ticozzi N, Filippi M, Silani V, Poletti B, Lunetta C. A preliminary comparison between ECAS and ALS-CBS in classifying cognitive-behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients. J Neurol. 2022 Apr;269(4):1899-1904. doi: 10.1007/s00415-021-10753-w.
32. Albanese A, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH, Hardiman O, Rinaldi G, Vanacore N, Dickie B; TUDCA-ALS Study Group. Tauroursodeoxycholic acid in patients with amyotrophic lateral sclerosis: The TUDCA-ALS trial protocol. Front Neurol. 2022 Sep 27;13:1009113.
33. Beghi E, Pupillo E, Bianchi E, Bonetto V, Luotti S, Pasetto L, Bendotti C, Tortarolo M, Sironi F, Camporeale L, Sherman AV, Paganoni S, Scognamiglio A, De Marchi F, Bongioanni P, Del Carratore R, Caponnetto C, Diamanti L, Martinelli D, Calvo A, Filosto M, Padovani A, Piccinelli SC, Ricci C, Dalla Giacoma S, De Angelis N, Inghilleri M, Spataro R, La Bella V, Logroscino G, Lunetta C, Tarlarini C, Mandrioli J, Martinelli I, Simonini C, Zucchi E, Monsurrò MR, Ricciardi D, Trojsi F, Riva N, Filippi M, Simone IL, Sorarù G, Spera C, Florio L, Messina S, Russo M, Siciliano G, Conte A, Saddi MV, Carboni N, Mazzini L; RNS60-ALS Study Group. Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial. Eur J Neurol. 2023 Jan;30(1):69-86.
34. Aiello EN, Solca F, Greco LC, La Tona A, Torre S, Carelli L, Morelli C, Doretti A, Colombo E, Messina S, Pain D, Radici A, Lizio A, Casiraghi J, Cerri F, Brugnera A, Compare A, Woolley S, Murphy J, Tremolizzo L, Appollonio I, Verde F, Sansone VA, Lunetta C, Silani V, Ticozzi N, Poletti  
    Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire. Front Psychol. 2023 Jan 20;13:1107001
35. Aiello EN, Greco LC, La Tona A, Solca F, Torre S, Carelli L, Pain D, Radici A, Lizio A, Casiraghi J, Cerri F, Brugnera A, Compare A, Woolley S, Murphy J, Tremolizzo L, Appollonio I, Verde F, Silani V, Ticozzi N, Lunetta C, Sansone VA, Poletti B. Clinimetrics of the cognitive section of the Italian ALS Cognitive Behavioral Screen (ALS-CBS™).Neurol Sci. 2023 Apr;44(4):1243-1249
36. Aiello EN, Solca F, Greco LC, Torre S, Carelli L, Morelli C, Doretti A, Colombo E, Messina S, Pain D, Radici A, Lizio A, Casiraghi J, Cerri F, Woolley S, Murphy J, Tremolizzo L, Appollonio I, Verde F, Sansone VA, Lunetta C, Silani V, Ticozzi N, Poletti B Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients..J Neurol. 2023 Aug;270(8):4090-4095.
37.  Lombardo FL, Spila Alegiani S, Mayer F, Cipriani M, Lo Giudice M, Ludolph AC, McDermott CJ, Corcia P, Van Damme P, Van den Berg LH, Hardiman O, Nicolini G, Vanacore N, Dickie B, Albanese A, Puopolo M; TUDCA-ALS Study Group. A randomized double-blind clinical trial on safety and efficacy of tauroursodeoxycholic acid (TUDCA) as add-on treatment in patients affected by amyotrophic lateral sclerosis (ALS): the statistical analysis plan of TUDCA-ALS trial. Rials 2023 Dec 5;24(1):792. doi: 10.1186/s13063-023-07638-w
38.  Sabatelli M, Cerri F, Zuccarino R, Patanella AK, Bernardo D, Bisogni G, Tanel R, Sansone V, Filosto M, Lattante S, Martello F, Doronzio PN, Stano S, Zanfini BA, Coccia M, Costantini EM, Lizio A, Lucioli G, Padovani A, Merlini GP, Conte A. Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients. J Neurol 2024 Aug;271(8):5177-5186.

doi: 10.1007/s00415-024-12437-7

39.  Lizio A, Lops J, Farè M, Pezzera S, Piras R, Sideri R, Tornabene D, Lunetta C, Diamanti L, Sansone VA, Cerri F. Development and validation of predictive models for 6-month gastrostomy timing in amyotrophic lateral sclerosis. BMJ Neurol Open 2026 Jan 9;8(1):e001336. doi: 10.1136/bmjno-2025-001336
40.  Lizio A, Farè M, Gerardi F, Collesi M, Sansone VA, Lunetta C, Diamanti L, Cerri F. Impact of treatment burden on medication adherence and quality of life in amyotrophic lateral sclerosis: a prospective multicentre study. Amyotroph Lateral Scler Frontotemporal Degener 2026 Jun 11:1-9. doi: 10.1080/21678421.2026.2683691

Duchenne Muscular Dystrophy

1. Mercuri E & VA Sansone as part of the DMD Italian Group.Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? Neuromuscul Disord 2016 Apr-May;26(4-5):261-3. doi: 10.1016/j.nmd.2016.04.001. I.F 2.969.
2. Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223 I.F 4.11
3. Coratti G, Brogna C, Norcia G, Ricotti V, Abbott L, D'Amico A, Berardinelli A, Vita GL, Lucibello S, Messina S, Sansone V, Albamonte E, Colia G, Salmin F, Gardani A, Manzur A, Main M, Baranello G, Arnoldi MT, Parsons J, Carry T, Connolly AM, Bertini E, Muntoni F, Pane M, Mercuri E. Longitudinal natural history in young boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2019 Nov;29(11):857-862.
4. Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group. Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One. 2019 Jun 25;14(6):e0218683.
5. Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators, Pegoraro E. Genetic modifiers of respiratory function in Duchenne muscular dystrophy. Ann Clin Transl Neurol. 2020 Apr 28. doi: 10.1002/acn3.51046
6. Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Front Genet. 2020 Mar 3;11:131.
7. Brogna C, Lucibello S, Coratti G, Vita G, Sansone VA, Messina S, Albamonte E, Salmin F, Ferrantini G, Pede E, Consulo C, Fanelli L, Forcina N, Norcia G, Pane M, Mercuri E. Respiratory function and therapeutic expectations in DMD: families experience and perspective. Acta Myol 2020 Sep 1;39(3):121-129.
8. Brogna C, Coratti G , Rossi R, Neri  M, Messina S, D’Amico A, Bruno C, Lucibello S, Vita G, Berardinelli A, Magri F, Ricci F, Pedemonte M, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Politano L, Comi GP, Sansone VA, Albamonte E, Donati A, Bertini E, Goemans N, Previtali S, Bovis F, Pane M, Ferlini A, Mercuri E, on behalf on the International DMD group. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy. Neuromuscul Disord 2021 Feb 21;S0960-8966(21)00043
9. Rao F, Garuti G, Vitacca M, Banfi P, Racca F, Cutrera R, Pavone M, Pedemonte M, Schisano M, Pedroni S, Casiraghi J, Vianello A, Sansone VA; UILDM Respiratory group. Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019. Acta Myol 2021 Mar 31;40(1):8-42. IF. 0.086 doi: 10.36185/2532-1900-045
10.  Falzarano MS, Grilli A, Zia S, Fang M, Rossi R, Gualandi F, Rimessi P, El Dani R, Fabris M, Lu Z, Li W, Mongini T, Ricci F, Pegoraro E, Bello L, Barp A, Sansone VA, Hegde M, Roda B, Reschiglian P, Bicciato S, Selvatici R, Ferlini A. RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing. HGG Adv. 2021 Aug 24;3(1):100054. doi: 10.1016/j.xhgg.2021.100054.
11.  Barp A, Carraro E, Goggi G, Lizio A, Zanolini A, Messina C, Perego S, Verdelli C, Lombardi G, Sansone VA, Corbetta S. Body composition and myokines in a cohort of patients with Becker muscular dystrophy. Muscle Nerve. 2022 Jul;66(1):63-70.
12.  Coratti G, Lenkowicz J, Norcia G, Lucibello S, Ferraroli E, d'Amico A, Bello L, Pegoraro E, Messina S, Ricci F, Mongini T, Berardinelli A, Masson R, Previtali SC, D'angelo G, Magri F, Comi GP, Politano L, Passamano L, Vita G, Sansone VA, Albamonte E, Panicucci C, Bruno C, Pini A, Bertini E, Patarnello S, Pane M, Mercuri E; italian DMD study group. Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.PLoS One. 2022 Jul 29;17(7):e0271681
13.  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM; Italian DMD Network and the United Dystrophinopathy Project. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology 2022 Feb 15;98(7):e730-e738. doi: 10.1212/WNL.0000000000013246
14.  pagnoli C, Adorisio R, Bello L, D'Amico A, D'Angelo MG, Pane M, Penzo M, Riguzzi P, Sansone V, Vianello A, Fusco C. Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience. Acta Myol 2023 Dec 31;42(4):118-122. doi: 10.36185/2532-1900-396
15.  Coratti G, Pane M, Brogna C, D'Amico A, Pegoraro E, Bello L, Sansone VA, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Sframeli M, Catteruccia M, Cicala G, Capasso A, Ricci M, Frosini S, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Scutifero M, Gardani A, Pini A, Monaco G, D'Angelo MG, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci F, Berardinelli A, Battini R, Masson R, Baranello G, Dosi C, Bertini E, Nigro V, Politano L, Mercuri E. Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study. Neuromuscul Disord 2024 Jan:34:75-82. doi: 10.1016/j.nmd.2023.11.011
16.  Pane M, Coratti G, Brogna C, Bovis F, D'Amico A, Pegoraro E, Bello L, Sansone V, Albamonte E, Ferraroli E, Mazzone ES, Fanelli L, Messina S, Catteruccia M, Cicala G, Ricci M, Frosini S, De Luca G, Rolle E, De Sanctis R, Forcina N, Norcia G, Passamano L, Gardani A, Pini A, Monaco G, D'Angelo MG, Capasso A, Leone D, Zanin R, Vita GL, Panicucci C, Bruno C, Mongini T, Ricci F, Berardinelli A, Battini R, Masson R, Baranello G, Dosi C, Bertini E, Politano L, Mercuri E. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability? J Neuromuscul Dis 2023;10(4):567-574. doi: 10.3233/JND-221556
17.  Spagnoli C, Adorisio R, Bello L, D'Amico A, D'Angelo MG, Pane M, Penzo M, Riguzzi P, Sansone V, Vianello A, Fusco C. Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience. Acta Myol 2024 Sep;43(3):102-107. doi: 10.36185/2532-1900-447
18.  Muntoni F, Byrne BJ, McMillan HJ, Ryan MM, Wong BL, Dukart J, Bansal A, Cosson V, Dreghici R, Guridi M, Rabbia M, Staunton H, Tirucherai GS, Yen K, Yuan X, Wagner KR; Taldefgrobep Alfa Study Group. The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy. Neurol Ther 2024 Feb;13(1):183-219.doi: 10.1007/s40120-023-00570-w
19.  Capasso A, Cicala G, Ricci M, Pane M, D'Amico A, Bruno C, Sansone VA, Messina S, Bello L, Pegoraro E, D'Angelo MG, Masson R, Berardinelli A, Pini A, Ricci F, Mongini TE, Coccia M, Nigro V, Trabacca A, Filosto M, Comi G, Magri F, Barp A, Battini R, Previtali SC, Valentino ML, Diella E, Dosi C, Ruggiero L, Siciliano G, Ricci G, Catteruccia M, Arpaia C, Coratti G, Norcia G, Bonanno S, Verriello L, Agosto C, Varone A, Ferlini A, Maioli MA, Brogna C, Siliquini S, Bruno I, Panicucci C, Allegra C, Albamonte E, Mercuri E; Italian DMD group. Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey. Eur J Pediatr. 2024 Dec 16;184(1):86.
20.  Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy. J Neuromuscul Dis 2024;11(2):285-297. doi: 10.3233/JND-230129
21.  Bello L, Sansone V, Masson R, Bruno C. The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients. Acta Myol 2024 Sep;43(3):114-115. doi: 10.36185/2532-1900-637
22.  Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro. Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity. Brain 2025 May 13;148(5):1695-1706
23.  Crawford TO, Servais L, Mercuri E, Kölbel H, Kuntz N, Finkel RS, Krueger J, Batley K, Young SD, Marantz JL, Song G, Yao B, Zhao G, Rossello J, Tirucherai GS, Mazzone ES, Butterfield RJ, de la Banda MGG, Seferian AM, Sansone VA, De Waele L, van der Pol WL, Cances C, Pechmann A, Darras BT; SAPPHIRE Study Group. Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Neurol 2025 Sep;24(9):727-739.
24. McDonald CM, Guglieri M, Vučinić D, Acsadi G, Brandsema JF, Bruno C, Finanger EL, Harper A, Lobato ML, Masson R, Muelas N, Munell F, Nevo Y, Péréon Y, Phan H, Sansone VA, Scoto M, Willis T, Finkel RS, Vandenborne K, Cazzaniga S, Montrasio S, Alessi F, Bettica P, Mercuri E; Givinostat Study 51 Investigators; Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS) Investigators; ImagingDMD Investigators. Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons. Ann Clin Transl Neurol. 2025 Aug 19.
25.  Coratti G, Pane M, Paolucci S, Bello L, D'Amico A, Berardinelli A, Catteruccia M, De Luca G, Masson R, Zanin R, Battini R, Dosi C, Frosini S, Gardani A, Buchignani B, Capasso A, Ricci F, Cicala G, Cavallina I, Rolle E, Mongini TE, Sansone VA, Albamonte E, Pini A, Giannotta M, Panicucci C, Not R, Bruno C, Nigro V, Picillo E, Pegoraro E, Mercuri E; Italian DMD group. Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.J Neuromuscul Dis. 2025 Sep 18:22143602251355318.
26.  Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy. Bello L, Riguzzi P, Albamonte E, Astrea G, Battini R, Barp A, Berardinelli AL, Bertini ES, Brolatti N, Bruno C, Corti S, D'Amico A, D'Angelo MG, Dallavalle G, Liguori R, Maggi L, Magri F, Mancuso M, Masson R, Mercuri E, Minetti C, Messina S, Mongini T, Musumeci O, Nigro V, Pane M, Panicucci C, Pedemonte M, Pini A, Politano L, Previtali S, Ricci F, Ricci G, Ruggiero L, Sansone V, Siciliano G, Trabacca A, Trucco F, Velardo D, Pegoraro E, Comi GP Drugs R D 2025 Jun;25(2):99-106. doi: 10.1007/s40268-025-00512-x
27.  Pane M, Capasso A, Arpaia C, D'Amico A, Albamonte E, Trucco F, Sframeli M, Masson R, Magri F, Bello L, Venditti R, Dosi C, Catteruccia M, Tosi M, Bruno C, Messina S, Comi G, Pegoraro E, Sansone VA, Mercuri E. Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice. Ann Clin Transl Neurol 2026 Apr 17:10.1002/acn3.70397. doi: 10.1002/acn3.70397

Facio-scapular humeral muscular dystrophy (FSHD)

1. Sansone V, Saperstein DS, Barohn RJ, Meola G. Concurrence of facioscapulohumeral muscular dystrophy and myasthenia. Muscle & Nerve 2004; 30:679-680.
2. LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R; ReSolve Investigators and the FSHD CTRN. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019 Sep 10;19(1):224.
3. Voermans NC, Vriens-Munoz Bravo M, Padberg GW, Laforêt P; FSHD European Trial Network workshop study group, van Alfen N, Attarian S, Badrising UA, Bugiardini P, Camano González P, Carlier RY, Desguerre I, Diaz-Manera J, Dumonceaux J, van Engelen BG, Evangelista T, Khosla S, Lópezde Munain A, van der Maarel SM, Mejat A, Monforte M, Montagnese F, Mul K, Oflazer P, Porter B, Quijano Roy S, Ricci E, Sacconi S, Sansone VA, Schoser B, Statland J, Stumpe E, Tasca G, Tawil R, Turner C, Vissing J. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe. Neuromuscul Disord. 2021 Sep;31(9):907-918. doi: 10.1016/j.nmd.2021.07.013. Epub 2021 Jul 24
4. Leung DG, Kinoshita J, Arjomand J, Dumonceaux J; 2022 FSHD IRC Program committee and co-chairs. Meeting report: The 2022 FSHD International Research Congress. Neuromuscul Disord. 2023 Feb;33(2):196-198.
5. Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J; ReSolve Investigators of the FSHD CTRN Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2023 Sep;33(9):63-68
6.  Varma A, Weinstein J, Seabury J, Rosero S, Engebrecht C, Wagner E, Zizzi C, Luebbe EA, Dilek N, McDermott MP, Kissel J, Sansone V, Heatwole CThe Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure. Muscle Nerve 2023 Oct;68(4):422-431. doi: 10.1002/mus.27951
7. Lizio A, Greco L, Beretta M, Frisoni MC, Becchiati S, Casiraghi J, Sansone VA, Carraro E The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy. Disabil Rehabil. 2024 Jul;46(15):3462-3468
8.  Carraro E, Greco LC, Lizio A, Beretta M, Pozzi S, Casiraghi J, Becchiati S, Beshiri F, Frisoni MC, Iossa F, Heatwole C, Sansone V. The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden. Disabil Rehabil 2024 May;46(10):2130-2137.  doi: 10.1080/09638288.2023.2212181
9.  Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E; FSHD Italian Clinical Group. Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. Clin Epigenetics2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2
10.  Ricci G, Torri F, Ruggiero L, Vercelli L, Gadaleta G, Rolle E, Risi B, Carraro E, Evangelista T, Bugiardini E, Dubuisson N, Voermans N, Siciliano G, Mongini T, Filosto M; Italian Clinical Network for FSHD Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form. Neurol Sci. 2025 Sep;46(9):4633-4643
11.  Dijkstra JN, Henzi BC, Mathews KD, Erasmus CE, Knox R, Willis T, de Valle K; ENMC 279th Workshop Study Group. 279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024. Neuromuscul Disord 2025 Oct:55:106236. doi: 10.1016/j.nmd.2025.106236
12.  Wang LH, Hatch MN, McDermott MP, Martens WB, Eichinger K, Lewis L, Walker M, Leung DG, Wagner KR, Sacconi S, Mul K, Shieh PB, Elsheikh B, Butterfield RJ, Johnson NE, Sansone V, Han JJ, Tawil R, Statland JM; ReSolve Investigators of FSHD CTRN. Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2025 Mar:48:105279. doi: 10.1016/j.nmd.2025.105279
13.  Tammam G, Dhifallah S, Yang H, Gambella M, Pini J, Butterfield RJ, Carraro E, Eichinger K, Elsheikh B, Johnson NE, Leung DG, Lewis L, Martens WB, Mul K, Sansone VA, Shieh PB, Wagner KR, Wang LH, Walker M, Tawil R, Statland JM, Sacconi S; ReSolve FSHD Investigators of the FSHD CTRN Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroup. Neuromuscul Disord 2026 May:62:106410

14.  Kools J, Korngut L, Petrillo Ballantyne J, Roozen I, de Haas R, Hill A, Evangelista T, Sansone VA, Roxburgh R, Lochmuller H, Statland J, Johnson NE, Voermans N. A toolkit for new facioscapulohumeral muscular dystrophy trial sites. J Neuromuscul Dis 2026 Jul;13(4):621-637. doi: 10.1177/22143602251399244
15.  Mul K, McDermott MP, Butterfield RJ, Elsheikh B, Eichinger K, Johnson NE, Leung DG, LoRusso S, Lewis L, Martens WB, Shieh PB, Wang LH, Walker M, Tawil R, Statland JM; ReSolve Investigators of the FSHD‐CTRN. Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. Ann Neurol 2026 Jun;99(6):1545-1554. doi: 10.1002/ana.78182
16.  Voermans NC, Statland JM, Hayward LJ, Rosenbohm A, López de Munain A, Sacconi S, Leung DG, Badrising UA, Vissing J, Schoser B, Muelas N, Lochmüller H, Bugiardini E, Wang LH, Maggi L, Ragole T, Pestronk A, Hamel JI, Goyal NA, Korngut L, Naddaf E, Harper A, Shieh PB, Kornblum C, Sansone V, Genge A, Tasca G, Jiang J, Jouvin MH, Tawil R; REACH Investigators. A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study. J Neuromuscul Dis 2026 Feb 6:22143602261419558. doi: 10.1177/22143602261419558
17.  Vincenten SCC, Rosenberger A, Badiani R, Sansone VA, van der Heijden OWH, Thornburg LL From preconception to parenting: reproductive health and pregnancy care in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2026 Jul:64:106435. doi: 10.1016/j.nmd.2026.106435
18.  Strafella C, Erdmann H, Bevilacqua JA, Ricci E, Ravenscroft G, Matsumura T, Vishnu VY, Sherif RE, Oflazer P, Muratori D, Figueiredo F, Sansone V, Sacconi S, Ricci G, Filosto M, Evangelista T, Rosa AL, Belayew A, Abicht A, Magdinier F, Giardina E. Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework. Neuromuscul Disord 2026 Jun:63:106434. doi: 10.1016/j.nmd.2026.106434

Neuromuscular Disorders in general

1. 1. Meola G, Sansone V, Rotondo G, Jabbour A.  Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve 1996 Nov;19(11):1476-80.
   2. Meola G, Sansone V, Rotondo G, Tome FM, Bouchard JP. Oculopharyngeal muscular dystrophy in Italy. Neuromuscl Disord. 1997 Oct;7 Suppl 1:S53-6.
   3. Sansone V, Boynton J, Palenski C. Use of gold weights to correct lagophthalmos in neuromuscular disease. Neurology. 1997 Jun;48(6):1500-3.
   4. Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov Disord. 2016 Sep 26. doi: 10.1002/mds.26808 I.F 7.072
   5. Boentert M, Wenningen S and Sansone VA. Respiratory involvement in Neuromuscular Disorders. Current Opinion in Neurology, 2017; May 29. doi: 10.1097/WCO.0000000000000470 I.F 4.699
   6. Sitzia C, Sansone VA, Corsi Romanelli MM. Creatine kinase elevation: a neglected clue to the diagnosis of polymyositis. A case report. Clin Chem Lab Med 2019 Jun 26;57(7):e149-e151.
   7. Iolascon G, Vitacca M, Carraro E, Chisari C, Fiore P, Messina S, Mongini T, Moretti A, Sansone VA, Toscano A, Siciliano G; AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neurorehabilitation), and SIMFER (Italian Society of Physical Medicine and Rehabilitation). Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach. Neurol Sci. 2020 Apr;41(4):859-868.
   8. Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, De Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Di Muzio A, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP; Italian Association of Myology. Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase. Acta Myol 2020 Jun 1;39(2):57-66
   9. Barp A, Velardo D, Ciscato P, Sansone VA, Lunetta C. Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection. Neurol Sci. 2021 Mar 1:1-4
   10. Barp A, Mosca L, Sansone VA. Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders. Diagnostics (Basel) 2021 Apr 14;11(4):701
   11. Carraro E, Casiraghi JL, Bobba B, Lizio A, Cardella C, Albamonte E, Lunetta C, Pozzi S, Sansone VA. Wheelchair hockey improves quality of life in people with neuromuscular disease. PM R. 2021 Nov 13. doi: 10.1002/pmrj.12736
   12. Rao F, Garuti G, Vitacca M, Banfi P, Racca F, Cutrera R, Pavone M, Pedemonte M, Schisano M, Pedroni S, Casiraghi J, Vianello A, Sansone VA; UILDM Respiratory group. Acta Myol. 2021 Mar 31;40(1):8-42.
   13. Andrea Barp, Elena Carraro, Giovanni Goggi, Andrea Lizio, Alice Zanolini, Carmelo Messina, Silvia Perego, Chiara Verdelli, Giovanni Lombardi, Valeria Ada Sansone, Sabrina Corbetta. Body composition and myokines in a cohort of patients with Becker muscular dystrophy. Muscle & Nerve. 2022;1–8.
   14. Ginocchio D, Ninfa A, Pizzorni N, Lunetta C, Sansone VA, Schindler A. Cross-Cultural Adaptation and Validation of the Italian Version of the Dysphagia Handicap Index (I-DHI). Dysphagia. 2021 Sep 28. doi: 10.1007/s00455-021-10369-2. 
   15. Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report..Acta Myol. 2022 Dec 31;41(4):135-177.
   16. Racca F, Longhitano Y, Zanza C, Balzanelli MG, Draisci G, Stoia PA, Gollo E, Maio M, Grattarola C, Astuto M, Ciccarelli A, Racca G, Romenskaya T, Giordano B, Serraino A, Sansone VA, Gregoretti C, Conti G, Piccolella F, Vaschetto R. Peri-partum respiratory management of pregnant women with neuro-muscular disorders: a prospective observational study (IT-NEUMA-Pregn study). BMC Anesthesiol. 2023 Oct 13;23(1):342.

Quality of Life

I am particularly interested in quality of life perception in the neuromuscular disorders and I am currently general health measures of quality of life (SF-36, PedsQL), symptom specific instruments (INQoL) and disease specific tools like the Myotonic Dystrophy Health Index (MD-HI). In collaboration with dr Heatwole from the University of Rochester, NY, we are currently validating the SMA-Health Index (SMA-HI), the Congenital and Childhood Myotonic Dystrophy Health Index (CCMD-HI) and the FacioScapularHumeral Muscular Dystrophy Health Index (FSH-HI) to monitor disease perception and its impact on QoL.

1. Sansone VA et al.  Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Europ J Neurol 2010, Sep;17(9):1178-87.

2. Sansone VA et al. Measuring quality of life impairment in skeletal muscle channelopathies. Eur J Neurol 2012 Nov;19(11):1470-6

3. Sansone VA, Lizio A, Greco L, Gragnano G, Zanolini A, Gualandris M, Iatomasi M, Heatwole C. The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure. Neuromusc Disord 2017 Nov;27(11):1047-1053.

4. Ambrosini A, Quinlivan R, Sansone VA et al.. "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. 235th ENMC workshop study group.Orphanet J Rare Dis. 2019 Jun 7;14(1):126.

5. Bassola B, Lizio A, Lucchini M, Sansone VA, Lusignani M Development and Validation of the Self-care in Motor Neuron Disease Index. .J Neurosci Nurs. 2019 Dec;51(6):325-330.

Mercuri E, Messina S, Montes J, Muntoni F, Sansone VA; all participants and the SMA PROM working group  Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019. Neuromuscul Disord. 2020 Mar 7:S0960-8966(20)30060-2.

6, Aiello EN, Solca F, Greco LC, La Tona A, Torre S, Carelli L, Morelli C, Doretti A, Colombo E, Messina S, Pain D, Radici A, Lizio A, Casiraghi J, Cerri F, Brugnera A, Compare A, Woolley S, Murphy J, Tremolizzo L, Appollonio I, Verde F, Sansone VA, Lunetta C, Silani V, Ticozzi N, Poletti B. Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire. Front Psychol. 2023 Jan 20;13:1107001.

Digital and e-Health

I am one of the scientific consultants of the Digital Neuro Hub within the Italian Neurological Society and actively promote eHealth and digital tools at the NeMO site.

1. Panicucci C, Sahin E, Bartolucci M, Casalini S, Brolatti N, Pedemonte M, Baratto S, Pintus S, Principi E, D'Amico A, Pane M, Sframeli M, Messina S, Albamonte E, Sansone VA, Mercuri E, Bertini E, Sezerman U, Petretto A, Bruno C. Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy. Cell Mol Life Sci. 2024 Sep 10;81(1):393. doi: 10.1007/s00018-024-05426-6.
2.  Servais L, Strijbos P, Poleur M, Mirea A, Butoianu N, Sansone VA, Vuillerot C, Schara-Schmidt U, Scoto M, Seferian AM, Previtali SC, Tulinius M, Nascimento A, Furlong P, Singh T, Dreghici RD, Goemans N, Mercuri E, Straub V, Ormazabal MG, Braid J, Muntoni F, Tricot A, Annoussamy M, Eggenspieler D Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint..Sci Rep. 2024 Nov 29;14(1):29681. doi: 10.1038/s41598-024-80177-9.
3. Farnè M, Fortunato F, Neri M, Farnè M, Balla C, Albamonte E, Barp A, Armaroli A, Perugini E, Carinci V, Facchini M, Chiarini L, Sansone VA, Straudi S, Tugnoli V, Sette E, Sensi M, Bertini M, Evangelista T, Ferlini A, Gualandi F TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases..Eur J Med Genet. 2023 Jun;66(6):104749. doi: 10.1016/j.ejmg.2023.104749. Epub 2023 Mar 21.PMID: 36948289
4. Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. . Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5.
5. Bona S, Donvito G, Cozza F, Malberti I, Vaccari P, Lizio A, Greco L, Carraro,E, Sansone VA, Lunetta C The development of an augmented reality device for the autonomous management of the electric bed and the electric wheelchair for patients with amyotrophic lateral sclerosis: a pilot study..Disabil Rehabil Assist Technol. 2021 Jul;16(5):513-519. doi: 10.1080/17483107.2019.1683237. Epub 2019 Nov 5.PMID: 31686552
6. Greco LC, Bolognini S, Lizio A, Pugliese R, Mondellini M, Colombo V, De Mattia E, Pozzi S, Casiraghi J, Regondi S, Sansone VA, Carraro E. User experience and cybersickness in neuromuscular patients using recreational immersive virtual reality. Disabil Rehabil Assist Technol. 2025 Oct 23:1-13

October 19^th,  2026

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