Phd in SENSORINEURAL PLASTICITY

email: Silvia.romano@uniroma1.it
phone: 0633775994
building: Ospedale S.Andrea
room: 3 piano fronte ascensori

Part I – General Information
Full Name Silvia Romano
Date of Birth 7 February 1975
Place of Birth Rome
Citizenship Italian
E-mail silvia.romano@uniroma1.it
Spoken Languages Italian, English
Part II – Education
Type Year Institution Notes (Degree, Experience,…)
University degree in Medicine 2000 “Sapienza” University of Rome Grades 110/110 “cum laude”, degree thesis title: “Possible risk factors in supranuclear progressive palsy”, tutor Prof. Cesare Fieschi
Medical Licensure 2001 Order of Physicians, Rome Medical License Number 51187
Specialty 2006 “Sapienza” University of Rome Specialty Degree in Neurology, grades 70/70 “cum laude”, thesis title “Episodic ataxia type 2: clinical and genetic study in Italian families”, tutor Prof. Marco Salvetti, co-tutor Dr. Caterina Mariotti
PhD 2010 “Sapienza” University of Rome Clinical and Experimental Neurosciences, thesis “Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled trial”, tutor Dr. Giovanni Ristori
Master 2017 “Sapienza” University of Rome Methodologies for therapeutic development in neurology
Part III – Appointments
IIIA – Accademic Appointments Start End Institution Position
Nov 2010- April 2011 Neurobiology and Molecular Medicine Institute – CNR Rome Clinical and research fellow, “Effects of tetrahydrobiopterin (6R BH4) on flow-mediated dilatation in CADASIL patients: a randomised controller trial. EudraCT number 2007-004370-55” Sponsor: AIFA. Tutor: Dr.ssa Marina Frontali.
Dec 2012-Nov 2013 Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), “Sapienza” University of Rome Clinical and research post-doctoral fellow “Potential immunomodulatory drugs in Multiple Sclerosis patients”. Tutor Prof. Marco Salvetti
Jan 2014 Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), “Sapienza” University of Rome Researcher
IIIB – Other Appointments
Start End Institution Position
Febr 2008- June 2008 Biochemical and Genetic Unit, the Foundation of the Carlo Besta Neurological Institute, IRCCS, Milan Research consultant, “EUROSCA-European Integrated Project on Spinocerebellar Ataxias: Pathogenesis, Genetics, Animal model – CT 2003.503304 – RB13”. Tutor Dr.ssa Caterina Mariotti
Nov 2008-Sep 2009 Clinical and Behavioural Neurology Laboratory, IRCCS, Santa Lucia Foundation, Rome
Research fellow, project on neurocognitive pattern of Multiple Sclerosis patients. Tutor Dr. Ugo Nocentini
2006 Ongoing Italian Huntington Disease Association (AICH) – Rome Consultant neurologist, clinical evaluation and treatment of Huntington disease patients
2010-2013 Neurology Unit, S. Andrea Hospital, II Faculty of Medicine, “Sapienza” University of Rome Research fellow, “Efficacy of riluzole in hereditary cerebellar ataxia: a randomized double-blind placebo-controlled trial”, FARM7KAJM7”. Tutor Dr. Giovanni Ristori
Part IV – Teaching experience
Years Institution Lecture/Course
2006-2011 II Faculty of Medicine, “Sapienza” University of Rome, Physiotherapy degree course Cerebellar disorders
2016-2018 II Faculty of Medicine and Psychology, “Sapienza” University of Rome, Medical degree course
Neurology: Huntington disease
2015-2018 II Faculty of Medicine and Psychology, “Sapienza” University of Rome, Health professions of rehabilitation sciences degree course Evidence-Based Rehabilitation
Part V - - Society memberships, Awards and Honors
Year Title
2008 Member of the Italian Society of Neurology (SIN)
2008 Member of the European Huntington Disease network (EHDN)
2009 Member of the Scientific Committee of Pe.R.Ma.NO Onlus
2009 Member of the Scientific Committee of Italian Huntington Disease Association (AICH) –Rome
Part VI – Research Activities
Keywords Brief Description
Hereditary Cerebellar Ataxias
2006-present
Clinical features and treatment of patients with hereditary cerebellar ataxias (Spinocerebellar ataxias and Episodic Ataxia type 2). Principal investigator in several trials with therapeutic agents for cerebellar ataxias: 1) Effects of tetrahydrobiopterin (6R BH4) on flow-mediated dilatation in CADASIL patients: a randomised controller trial (AIFA); 2) Riluzole in cerebellar ataxia (no profit study); 3) Betamethasone in Episodic Ataxia” (no profit study); 4) Efficacy of riluzole in hereditary cerebellar ataxia: a randomized double-blind placebo-controlled trial (AIFA).
Huntington Disease
2006-present
Clinical features of Huntington patients. Investigator of REGISTRY 3.0 version - an observational study of the European
Huntington-Disease Network (EHDN).
Multiple Sclerosis
2001- present
Etiopathogenesis, cognitive impairment and treatment of multiple sclerosis patients. Investigator of National and International phase II and III Trials with therapeutic agents for MS: 1) BCG in multiple sclerosis; 2) hydroxyurea in primary progressive multiple sclerosis (Ministry of Health); 3) Observational study of beta 1-a interferon in RRSM patients (SURROGATE), Merk- Serono; 4) Natalizumab in SPSM patients (ASCEND), (Biogen-Idec); MT1303E05 in RRSM patients, (MOMENTUM), Mitsubishi Tanabe.
CADASIL
2006-present
Clinical neurologist with special attention to diagnosis, treatment and follow-up of CADASIL patients.
Alexander disease
2006- present
Clinical neurologist with special attention to clinical features of adult-onset form of Alexander disease.
Parkinsonism
1999-2001
Epidemiology and clinical features of Parkinsonism.
Part VII –Pubblication
1. Romano S, Colosimo C. Procerus sign in progressive supranuclear palsy. Neurology 2001;57(10):1928.
2. Pozzilli C., Romano S., Cannoni S. Epidemiology and current patterns of multiple sclerosis in Europe today. Journal of Rehabilitation Research and Development 2002; 39:175-185.
3. Colosimo C, Chianese M, Romano S. Is hypertension associated with hemifacial spasm? Neurology 2003;61(4):587.
4. Pozzilli C, Marinelli F, Romano S, Bagnato F. Corticosteroids treatment. J Neurol Sci 2004; 223(1):47-51.
5. Greco A, Minghetti L, Puopolo M, Cannoni S, Romano S, Pozzilli C, Levi G. Cerebrospinal fluid isoprostanes are not related to inflammatory activity in relapsing-remitting multiple sclerosis. J Neurol Sci 2004; 224(1-2):23-7.
6. Schmitz-Hubsch T, Tezenas du Montcel S, Baliko L, Boesch S, Bonato S, Fancellu R, Giunti P, Globas C, Kang JS, Kremer B, Mariotti C, Melegh B, Rakowicz M, Rola R, Romano S, Schols L, Szymanski S, van de Warrenburg BP, Zdzienicka E, Durr A, Klockgether T. Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 2006; 21(5):699-704.
7. Romano S, Salvetti M, Ceccherini I, De Simone T, Savoiardo M. Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007 Jun;6(6):562-70.
8. Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. Clin Genet 2007; 72 (5):427-433.
9. Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambero P, Fancellu R, Savoiardo M. Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 2008;29:1190-6.
10. Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 2008 Sep;131(Pt 9):2321-31.
11. O'Connor P, Comi G, Montalban X, Antel J, Radue EW, de Vera A, Pohlmann H, Kappos L; FTY720 D2201 Study Group. Oral fingolimod (FTY720) in multiple sclerosis: two-year results of a phase II extension study. Neurology 2009;72:73-9.
12. Aziz NA, Jurgens CK, Landwehrmeyer GB; EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology 2009;73:1280-5.
13. Romano S, Ristori G, Visconti A, Cannoni S, Spadaro M, Frontali M, Pontieri FE, Vanacore N, Salvetti M. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology 2010; 74:839-45.
14. Spanò B, Cercignani M, Basile B, Romano S, Mannu R, Centonze D, Caltagirone C, Bramanti P, Nocentini U, Bozzali M. Multiparametric MR investigation of the motor pyramidal system in patients with 'truly benign' multiple sclerosis. Mult Scler 2010;16:178-88.
15. Comi G, O'Connor P, Montalban X, Antel J, Radue EW, Karlsson G, Pohlmann H, Aradhye S, Kappos L; FTY720 D2201 Study Group. Phase II study of oral fingolimod (FTY720) in multiple sclerosis: 3-year results. Mult Scler 2010;16:197-207.
16. Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci 2010;291:30-6.
17. Bachetti T, Di Zanni E, Lantieri F, Caroli F, Regis S, Filocamo M, Rainero I, Gallone S, Cilia R, Romano S, Savoiardo M, Pareyson D, Biancheri R, Ravazzolo R, Ceccherini I. A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities. Ann Hum Genet 2010;74:506-15.
18. Annibali V, Ristori G, Angelini DF, Serafini B, Mechelli R, Cannoni S, Romano S, Paolillo A, Abderrahim H, Diamantini A, Borsellino G, Aloisi F, Battistini L, Salvetti M. CD161(high)CD8+T cells bear pathogenetic potential in multiple sclerosis. Brain 2011;134:542-54.
19. Cavallari M, Falco T, Frontali M, Romano S, Bagnato F, Orzi F. Fractal analysis reveals reduced complexity of retinal vessels in CADASIL. PLoS One. 2011 Apr 27;6(4):e19150.
20. Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet. 2012 Jan;20(1):20-6.
21. Campolo J, De Maria R, Frontali M, Taroni F, Inzitari D, Federico A, Romano S, Puca E, Mariotti C, Tomasello C, Pantoni L, Pescini F, Dotti MT, Stromillo ML, De Stefano N, Tavani A, Parodi O. Impaired vasoreactivity in mildly disabled CADASIL patients. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):268-74.
22. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS; PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB; REGISTRY study of the European Huntington's Disease Network, Myers RH; HD-MAPS Study Group, MacDonald ME, Gusella JF; COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012 Mar 6;78(10):690-5.
23. Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VA, Vittori D, Fornasiero A, Buscarinu MC; International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium, Romano S, Salvetti M, Ristori G. A "candidate-interactome" aggregate analysis of genome-wide association data in multiple sclerosis. PLoS One. 2013 May 16;8(5):e63300.
24. Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D; REGISTRY Investigators of the European Huntington’s Disease Network, Nguyen HP. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS One. 2013 Jul 22;8(7):e68951.
25. Mechelli R; Vittori D; Coarelli G; Aimati L; De Luca O; Romano S; Ricigliano VAG; Annibali V; Policano C; Mattei C. Screening for neurotropic viruses in cerebrospinal fluid of patients with multiple sclerosis and other neurological diseases. Mult Scler 2013 Aug 19.
26. Annibali V, Mechelli R, Romano S, Buscarinu MC, Fornasiero A, Umeton R, Ricigliano VA, Orzi F, Coccia EM, Salvetti M, Ristori G. IFN-β and multiple sclerosis: From etiology to therapy and back. Cytokine Growth Factor Rev. 2014
27. De Maria R, Campolo J, Frontali M, Taroni F, Federico A, Inzitari D, Tavani A, Romano S, Puca E, Orzi F, Francia A, Mariotti C, Tomasello C, Dotti MT, Stromillo ML, Pantoni L, Pescini F, Valenti R, Pelucchi C, Parolini M, Parodi O. Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial. Stroke. 2014 Oct;45(10):2959-66.
28. Ristori G, Romano S, Coarelli G, Buscarinu MC, Salvetti M. Author response. Neurology. 2014 Jul 22;83(4):381.
29. Ristori G, Romano S, Coarelli G, Buscarinu MC, Salvetti M. Author response. Neurology. 2014 Jul 15;83(3):293.
30. Sethi NK, Ristori G, Romano S, Coarelli G, Buscarinu MC, Salvetti M. Effects of Bacille Calmette-Guérin after the first demyelinating event in the CNS. Neurology. 2014 Jul 15;83(3):293.
31. Argento O, Incerti CC, Pisani V, Magistrale G, Di Battista G, Romano S, Ferraro E, Caltagirone C, Nocentini U. Domestic accidents and multiple sclerosis: an exploratory study of occurrence and possible causes. Disabil Rehabil. 2014;36(26):2205-9.
32. Mechelli R, Vittori D, Coarelli G, Aimati L, De Luca O, Romano S, Ricigliano VA, Annibali V, Policano C, Mattei C, Salvetti M, Ristori G. Screening for neurotropic viruses in cerebrospinal fluid of patients with multiple sclerosis and other neurological diseases. Mult Scler. 2014 Apr;20(5):638.
33. Severa M, Rizzo F, Giacomini E, Annibali V, Gafa V, Romano S, Buscarinu MC, Fornasiero A, Salvetti M, Coccia EM. IFN-β Therapy Regulates TLR7-Mediated Response in Plasmacytoid Dendritic Cells of Multiple Sclerosis Patients Influencing an Anti-Inflammatory Status. J Interferon Cytokine Res. 2015 Apr 29.
34. Mechelli R, Manzari C, Policano C, Annese A, Picardi E, Umeton R, Fornasiero A, D'Erchia AM, Buscarinu MC, Agliardi C, Annibali V, Serafini B, Rosicarelli B, Romano S, Angelini DF, Ricigliano VA, Buttari F, Battistini L, Centonze D, Guerini FR, D'Alfonso S, Pesole G, Salvetti M, Ristori G. Epstein-Barr virus genetic variants are associated with multiple sclerosis. Neurology. 2015 Mar 31;84(13):1362-8.
35. Kuhle J, Disanto G, Dobson R, Adiutori R, Bianchi L, Topping J, Bestwick J, Meier UC, Marta M, Costa GD, Runia T, Evdoshenko E, Lazareva N, Thouvenot E, Iaffaldano P, Direnzo V, Khademi M, Piehl F, Comabella M, Sombekke M, Killestein J, Hegen H, Rauch S, D'Alfonso S, Alvarez-Cermeño J, Kleinová P, Horáková D, Roesler R, Lauda F, Llufriu S, Avsar T, Uygunoglu U, Altintas A, Saip S, Menge T, Rajda C, Bergamaschi R, Moll N, Khalil M, Marignier R, Dujmovic I, Larsson H, Malmestrom C, Scarpini E, Fenoglio C, Wergeland S, Laroni A, Annibali V, Romano S, Martínez A, Carra A, Salvetti M, Uccelli A, Torkildsen Ø, Myhr K, Galimberti D, Rejdak K, Lycke J, Frederiksen J, Drulovic J, Confavreux C, Brassat D, Enzinger C, Fuchs S, Bosca I, Pelletier J, Picard C, Colombo E, Franciotta D, Derfuss T, Lindberg R, Yaldizli Ö, Vécsei L, Kieseier B, Hartung H, Villoslada P, Siva A, Saiz A, Tumani H, Havrdová E, Villar L, Leone M, Barizzone N, Deisenhammer F, Teunissen C, Montalban X, Tintoré M, Olsson T, Trojano M, Lehmann S, Castelnovo G, Lapin S, Hintzen R, Kappos L, Furlan R, Martinelli V, Comi G, Ramagopalan S, Giovannoni G. Conversion from clinically isolated syndrome to multiple sclerosis: A large multicentre study. Mult Scler. 2015 Feb 13.
36. Annibali V, Mechelli R, Romano S, Buscarinu MC, Fornasiero A, Umeton R, Ricigliano VA, Orzi F, Coccia EM, Salvetti M, Ristori G. IFN-β and multiple sclerosis: from etiology to therapy and back. Cytokine Growth Factor Rev. 2015 Apr;26(2):221-8.
37. Valcárcel-Ocete L, Alkorta-Aranburu G, Iriondo M, Fullaondo A, García-Barcina M, Fernández-García JM, Lezcano-García E, Losada-Domingo JM, Ruiz-Ojeda J, Álvarez de Arcaya A, Pérez-Ramos JM, Roos RA, Nielsen JE, Saft C; REGISTRY investigators of the European Huntington's Disease Network, Zubiaga AM, Aguirre A. Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene. PLoS One. 2015 Jul 6;10(7):e0131573.
38. Vuono R, Winder-Rhodes S, de Silva R, Cisbani G, Drouin-Ouellet J; REGISTRY Investigators of the European Huntington’s Disease Network, Spillantini MG, Cicchetti F, Barker RA. The role of tau in the pathological process and clinical expression of Huntington's disease. Brain. 2015 Jul;138(Pt 7):1907-18.
39. Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G. Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015 Aug 25.
40. Severa M, Rizzo F, Giacomini E, Annibali V, Gafa V, Romano S, Buscarinu MC, Fornasiero A, Salvetti M, Coccia EM. IFN-β Therapy Regulates TLR7-Mediated Response in Plasmacytoid Dendritic Cells of Multiple Sclerosis Patients Influencing an Anti-Inflammatory Status. J Interferon Cytokine Res. 2015 Sep;35(9):668-81.
41. Faggianelli N, Puglisi R, Veneziano L, Romano S, Frontali M, Vannocci T, Fortuni S, Testi R, Pastore A. Analyzing the Effects of a G137V Mutation in the FXN Gene. Front Mol Neurosci. 2015 Nov 25;8:66.
42. Dale M, Maltby J, Martucci R, Shimozaki S; REGISTRY investigators of the European Huntington's Disease Network. Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population. Mov Disord. 2015 Dec;30(14):1954-60.):789.
43. Disanto G, Adiutori R, Dobson R, Martinelli V, Dalla Costa G, Runia T, Evdoshenko E, Thouvenot E, Trojano M, Norgren N, Teunissen C, Kappos L, Giovannoni G, Kuhle J; International Clinically Isolated Syndrome Study Group. Serum neurofilament light chain levels are increased in patients with a clinically isolated syndrome. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):126-9.
44. Serafini G, Giordano G, Romano S, Raja M, Girardi P, Amore M, Pompili M. Huntington's disease and suicidal behavior: The importance of lithium treatment. Clin Neurol Neurosurg. 2016 Jun;145:108-9.
45. Romano S, Coarelli G, Vanacore N, Salvetti M, Ristori G. Riluzole in patients with hereditary cerebellar ataxia - Authors' reply. Lancet Neurol. 2016 Jul;15(8):789.
46. Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Longobardi A, Romano S, Ristori G, Santorelli FM, Pierelli F, Casali C. Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind. Neuroepidemiology. 2016;46(4):268
47. Jacobs M, Hart EP, van Zwet EW, Bentivoglio AR, Burgunder JM, Craufurd D, Reilmann R, Saft C, Roos RA; REGISTRY investigators of the European Huntington’s Disease Network. Progression of motor subtypes in Huntington's disease: a 6-year follow-up study. J Neurol. 2016 Jul 19.
48. Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology. 2016 Aug 9;87(6):571-8.
49. Eleuteri C, Olla S, Veroni C, Umeton R, Mechelli R, Romano S, Buscarinu MC, Ferrari F, Calò G, Ristori G, Salvetti M, Agresti C. A staged screening of registered drugs highlights remyelinating drug candidates for clinical trials. Sci Rep. 2017 Apr 7;7:45780.
50. Buscarinu MC, Cerasoli B, Annibali V, Policano C, Lionetto L, Capi M, Mechelli R, Romano S, Fornasiero A, Mattei G, Piras E, Angelini DF, Battistini L, Simmaco M, Umeton R, Salvetti M, Ristori G. Altered intestinal permeability in patients with relapsing-remitting multiple sclerosis: A pilot study. Mult Scler. 2017 Mar;23(3):442-446.
51. Olivito G, Cercignani M, Lupo M, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Bozzali M, Leggio M. Neural substrates of motor and cognitive dysfunctions in SCA2 patients: A network based statistics analysis. Neuroimage Clin. 2017 Mar 25;14:719-725.
52. Buscarinu MC, Fornasiero A, Romano S, Ferraldeschi M, Renié R, Trasimeni G, Salvetti M, Ristori G. Coincident onset of multiple sclerosis and Herpes simplex vi-rus 1 encephalitis: a case report. Multiple Sclerosis and Demyelinating Disorders 2017 2:6 DOI: 10.1186/s40893-017-0023-
53. Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurol. 2017 Jun 20. pii: S1474 4422(17)30161-8.
54. Underwood M, Bonas S, Dale M, REGISTRY Investigators of the European Huntington’s Disease Network. Huntington’s Disease: Prevalence and Psychological Indicators of Pain. Mov Dis Clin Pract 2017 March/April 4(2):198-204.
55. Maltby J, Dale M, Underwood M, Simpson J and the REGISTRY investigators of the European Huntington’s Disease Network. Irritability in Huntington’s Disease: Factor Analysis of Snaith’s Irritability Scale. Mov Dis Clinical Practice. 2017 May/June 4(3):342–348
56. Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurol. 2017 Jun 20. pii: S1474 4422(17)30161-8.
57. Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA. Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes. Brain. 2017 Jul 1;140(7):e42.
58. Baake V, Reijntjes RHAM, Dumas EM, Thompson JC; REGISTRY Investigators of the European Huntington's Disease Network, Roos RAC. Cognitive decline in Huntington's disease expansion gene carriers. Cortex. 2017 Aug 3;95:51-62.
59. Rodrigues FB, Abreu D, Damásio J, Gonçalves N, Correia Guedes L, Coelho M, Ferreira JJ, REGISTRY Investigators of the European Huntington’s Disease Network. Survival, Mortality, Causes and Places of Death in a European Huntington’s Disease Prospective Cohort. Mov Dis Clinical Practice. 2017; September/October Volume 4 (5):737-742.
60. Buscarinu MC, Romano S, Mechelli R, Pizzolato Umeton R, Ferraldeschi M, Fornasiero A, Reniè R, Cerasoli B, Morena E, Romano C, Loizzo ND, Umeton R, Salvetti M, Ristori G. Intestinal Permeability in Relapsing-Remitting Multiple Sclerosis. Neurotherapeutics. 2017 Nov 8. doi: 10.1007/s13311-017-0582-3.
61. van Duijn E, Vrijmoeth EM, Giltay EJ, Bernhard Landwehrmeyer G; REGISTRY investigators of the European Huntington's Disease Network. Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers. J Affect Disord. 2017 Nov 15;228:194-204.
62. Olivito G, Lupo M, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Cercignani M, Bozzali M, Leggio M. Microstructural MRI Basis of the Cognitive Functions in Patients with Spinocerebellar Ataxia Type 2. Neuroscience. 2017 Dec 16;366:44-53.
63. van Duijn E, Vrijmoeth EM, Giltay EJ, Bernhard Landwehrmeyer G; REGISTRY investigators of the European Huntington's Disease Network. Suicidal ideation and suicidal behavior according to the C-SSRS in a European cohort of Huntington's disease gene expansion carriers. J Affect Disord. 2018;228:194-204.
64. Olivito G, Lupo M, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Cercignani M, Bozzali
M, Leggio M. Structural cerebellar correlates of cognitive functions in spinocerebellar ataxia type 2. J
Neurol. 2018 Mar;265(3):597-606.
65. Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M,
Salvetti M, Bertini E, Ristori G. Novel homozygous GBA2 mutation in a patient with complicated
spastic paraplegia. Clin Neurol Neurosurg. 2018 Mar 3;168:60-63.
66. Barkhuizen M, Rodrigues FB, Anderson DG, Winkens B; REGISTRY Investigators of the European
Huntington's Disease Network, Wild EJ, Kramer BW, Gavilanes AWD. Perinatal insults and
neurodevelopmental disorders may impact Huntington's disease age of diagnosis. Parkinsonism Relat
Disord 2018 May 18.
67. Valcárcel-Ocete L, Fullaondo A, Alkorta-Aranburu G, García-Barcina M, Roos RAC, Hjermind LE, Saft
C, Frontali M, Reilmann R, Rickards H; REGISTRY investigators of the European Huntington’s Disease
Network (EHDN), Zubiaga AM, Aguirre A. Does arterial hypertension influence the onset of
Huntington's disease? PLoS One. 2018 May 23;13(5):e0197975.
68. Lupo M, Olivito G, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Cercignani M, Bozzali
M, Leggio M. The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2.
Cortex. 2018 Jul 31;108:35-49.
69. McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L;
REGISTRY Investigators of the European Huntington's Disease Network. Reduced Cancer Incidence in
Huntington's Disease: Analysis in the Registry Study. J Huntingtons Dis. 2018;7(3):209-222.
70. Annibali V, Umeton R, Palermo A, Severa M, Etna MP, Giglio S, Romano S, Ferraldeschi M, Buscarinu
MC, Vecchione A, Annese A, Policano C, Mechelli R, Pizzolato Umeton R, Fornasiero A, Angelini DF,
Guerrera G, Battistini L, Coccia EM, Salvetti M, Ristori G. Analysis of coding and non-coding
transcriptome of peripheral B cells reveals an altered interferon response factor (IRF)-1 pathway in
multiple sclerosis patients. J Neuroimmunol 2018; 324(15): 165-171.