Date of Birth: Novembre 3rd, 1961

Personal address: Via Cornelio Celso 24 – 00161, Rome, Italy - Mob. +39 339 6425285

Personal e-mail: ferdinandosquitieri@yahoo.it

Work e-mails: ferdinando.squitieri@lirh.it, f.squitieri@css-mendel.it

Nationality: Italian

Language: Italian and English

 

CURRENT POSITIONS

o   Chief Scientific Officer and co-Founder of Lega Italiana Ricerca Huntington (LIRH)

Foundation, Rome, Italy

o   Head of Huntington and Rare Diseases Unit at IRCCS Casa Sollievo della Sofferenza Research Hospital, San Giovanni Rotondo, Italy

o   Chief Medical Officer, Rare Neurological Diseases Centre (CMNR) of LIRH Foundation, Rome, Italy

o   Head of the outpatient service of Neurology, CSS-Mendel Institute, Rome, Italy

 

EDUCATION AND TRAINING

o   1985: Degree in Medicine and Surgery, University Federico II, Naples, Italy

o   1989: Specialized in Neurology, University Federico II, Naples, Italy

o   1990-1997: Expertise in Psychiatry. Epydemiological Commettee for Psychiatric Disorders, ASL SA1, Italy

o   1991: (February-April) - Visiting Researcher (Grant CNR-MRC): Neurogenetics and Movement Disorders; Queen Square Institute for Neurology and Neurosurgery,

University College of London, UK

o   1993-1994: Post-doctoral Research Fellow (Grant Italian CNR-Canadian MRC),

Dept. of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

o   1994: (six month stage) - Post-doctoral Research, Neurodegenerative Disorders Centre, University of British Columbia, Vancouver, BC, Canada

o   1995: Ph.D in Applied Neurobiology (curricula in Genetics and Epydemiology), University of Siena, Italy

 

TEACHING

o   1998-2012: Board member of PhD program in Neurobiology, University of Catania, Italy. Supervisor of five PhD students.

o   1998-2014: Acting professor of Medical Genetics (Code F03), Course for Biomedical Technicians of Medical Laboratories, “Sapienza” University of Rome, Italy.

o   2014: Acting professor of Psychology and Bioethics, Course for Biomedical Technicians of Medical Laboratories, “Sapienza” University of Rome, Italy.

o   2014-2015: Acting professor of Biology and Genetics, Course for Biomedical Technicians of Medical Laboratories and for Technicians in Radiology, “Sapienza”

University of Rome, Italy

o   2022-present: Board member of PhD program in Neuroscience, University Tor Vergata, Rome, Italy.

 

MEMBERSHIP/BOARDS

o   1998-2015: Central Coordination for Rare Diseases - Molise Region, Italy.

o   2004-present: member and Principal Investigator (PI) of the European Huntington disease network - Working Group on Juvenile onset Huntington’s disease.

o   2008-present: member of the North American Huntington Study Group network

o   2013-2018: Consultant of Oman Ministry of Health (National Genetic Centre)

o   2015-present: advisor for Teva pharma, Wave Life Sci, La Hoffmann Roche, UCB, Skyhawk, Novartis, PTC Therapeutics, Prilenia, Jeito life, UniQure.

 

GRANTS/AWARDS

o   1989-90: Award "Pino Candalino" from University Federico II of Naples, Italy.

o   1988-89: Award "Roberto Mannajuolo" from Italian Huntington Disease Association (AICH).

o   1997: Award from Ricerca in Movimento Association for the best Italian publication of the year on Huntington disease (Giovannone et al., Hum Mut 1997)

o   2004: Award from Ricerca in Movimento Association for the best Italian publication of the year on Huntington disease (Squitieri et al., Brain 2003).

 

LAST 10 YEARS PROJECTS/CLINICAL TRIALS

o   2011-2012: PI, Italian Coordinator for the phase 2 double blind multicenter, European drug trial of sirtuin inhibitor Selisistat in HD (sponsored by Siena Biotech).

o   2014-present: PI of the observational clinical trial ENROLL-HD (sponsored by CHDI).

o   2014: PI, Italian Coordinator of the phase 2 PRIDE-HD, double blind, multicenter, global drug trial of Pridopidine in HD (sponsored by TEVA).

o   2015-2018: PI of the phase 2 LEGATO, global trial with Laquinimod in HD (sponsored by TEVA).

o   2015-2018: PI of Open PRIDE-HD, global drug trial with Pridopidine in HD (sponsored by TEVA).

o   2018: Ministry of Health: PI, Coordinator of Ricerca Finalizzata 2016 - RARE in rarity: Advanced in vivo and in vitro technologies to STudy Juvenile Huntington Disease neuronal connectivity and its relationship with clinical and genetic factors. The RAREST-JHD project.

o   2018: JPND call for proposals: PI of “Multinational research projects on Health and Social Care for Neurodegenerative Diseases”: European eHealth care model for rare neurodegenerative diseases.

o   2019: PI, Italian Coordinator phase 3 Generation-HD1 by Tominersen, double blind, multicenter, global drug trial in HD (sponsored by IONIS-Roche).

o   2019-present: PI of the observational trial HDClarity (sponsored by CHDI).

o   2020-present: PI, Italian Coordinator phase 3 with Pridopidine of double blind, multicenter, global drug trial in HD PROOF-HD trial (sponsored by Prilenia).

o   2022-present PI, Italian Coordinator phase 1 double blind, multicenter, global drug trial in HD, Select-HD with SNP3 in Huntington disease (sponsored by Wave Life Science).

o   2022: PI, Italian Coordinator of phase 2 double blind, multicenter, global drug trial in HD with Branaplam in HD – Vibrant-HD trial (sponsored by Novartis).

o   2023: PI, Italian Coordinator of phase 2 double blind, multicenter, global drug trial in HD , Pivot-HD with PTC518.

o   2022-2023: PI, Italian Coordinator of phase 2 double blind, multicenter, global drug trial in HD with SOMBiotech.

 

BOOKS AND EDITORIAL BOARDS

o   2009: Juvenile Huntington's Disease and other trinucleotide repeat disorders Oxford University Press book. Edited by Oliver W.J. Quarrell, Helen M. Brewer, Ferdinando Squitieri, Roger A. Barker, Martha A. Nance and G. Bernhard

Landwehrmeyer ISBN13: 9780199236121ISBN10: 0199236127 Hardcover, 200 page.

o   2012: Huntington's chorea: IBZM SPECT role in preclinical diagnosis. Editors: D.

Giobbe, F. Squitieri, G.C. Castellano 2012

o   Editorial board of the Journal of Huntington Disease.

o   Editorial Board of the journal Genes

o   Reviewer for many top ranked journals including: Lancet Neurology, Lancet Psychiatry, Neurology, Ann Neurol, eBioMedicine, Brain, JNNP, Mov Disord, Mov Disord Clin Pract, Eur J Neurol, Am J Hum Genet, Hum Mol Genet, Clin Genet, Europ J Hum Genet, PloS One, etc…

 

LAST 5 YEARS PUBLICATIONS [TOTAL PUBLICATIONS NUMBER IN PUBMED = 208, CURRENT H-INDEX = 60]

 

o   Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study. Reilmann R, et al., in LEGATO-HD Study Group. Lancet Neurol. 2024 Jan 24:S1474-4422(23)00454-4. doi: 10.1016/S1474- 4422(23)00454-4. Epub ahead of print. PMID: 38280392.

 

o   Prodromal Cognitive Changes as a Prognostic Indicator of Forthcoming Huntington's Disease Severity: A Retrospective Longitudinal Study. Migliore S, Bianco SD, Scocchia M, Maffi S, Busi LC, Ceccarelli C, Curcio G, Mazza T, Squitieri F*. Mov Disord Clin Pract. 2024 Jan 24. doi: 10.1002/mdc3.13975. Epub ahead of print. PMID: 38264920.

 

o   Tominersen in Adults with Manifest Huntington's Disease. McColgan P et al., in GENERATION HD1 Investigators. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. PMID: 38055260.

 

o   GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case- control study. Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F*. EBioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26. PMID: 37898095; PMCID: PMC10630613.

 

o   Validity, diagnostics and feasibility of the Italian version of the Montreal Cognitive Assessment (MoCA) in Huntington's disease. Aiello EN, Solca F, Torre S, Lafronza A, Maranzano A, Bonetti R, Scheveger F, Maffi S, Ceccarelli C, Scocchia M, Casella M, Verde F, Migliore S, Silani V, Ticozzi N, Squitieri F, Ciammola A, Poletti B. Neurol Sci. 2024 Mar;45(3):1079-1086. doi: 10.1007/s10072- 023-07070-7. Epub 2023 Sep 28. PMID: 37770762.

 

o   Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments. Horta-Barba A, Martinez-Horta S, Pérez-Pérez J, Puig-Davi A, de Lucia N, de Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network.. J Neurol. 2023 Nov;270(11):5408-5417. doi: 10.1007/s00415-023-11804-0. Epub 2023 Jul

18. PMID: 37462754; PMCID: PMC10576674

 

o   Migliore S, D'Aurizio G, Ceccarelli C, Casella M, Curcio G, Squitieri F. The validation of the Italian version of multiple sclerosis neuropsychological screening questionnaire in Huntington's disease. Neurol Sci. 2023 Dec;44(12):4343-4348. doi: 10.1007/s10072-023-06950-2. Epub 2023 Jul 11. PMID: 37432564.

 

o   Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review. van Lonkhuizen PJC, Frank W, Heemskerk AW, van Duijn E, de Bot ST, Mühlbäck A, Landwehrmeyer GB, Chavannes NH, Meijer E; wthin the HEALTHE-RND consortium. J Neurol. 2023 Jan 30. doi: 10.1007/s00415-022-11551-8. Online ahead of print. PMID: 36715747 Review.

 

o   Diagnostic properties of the Frontal Assessment Battery (FAB) in Huntington's disease. Solca F, Aiello EN, Migliore S, Torre S, Carelli L, Ferrucci R, Priori A, Verde F, Ticozzi N, Maffi S, Ceccarelli C, Squitieri F, Silani V, Ciammola A, Poletti B. Front Psychol. 2022 Nov 30;13:1031871. doi: 10.3389/fpsyg.2022.1031871. eCollection 2022. PMID: 36533005 Free PMC article.

 

o   Economic burden of Huntington disease in Europe and the USA: Results from the Huntington's Disease Burden of Illness study. Rodríguez-Santana I, Mestre T, Squitieri F, Willock R, Arnesen A, Clarke A, D'Alessio B, Fisher A, Fuller R, Hamilton JL, Hubberstey H, Stanley C, Vetter L, Winkelmann M, Doherty M, Wu Y, Finnegan A, Frank S. Eur J Neurol. 2022 Nov 24. doi: 10.1111/ene.15645. Online ahead of print. PMID: 36421029 Review.

 

o   Semiology and determinants of apathy across neurodegenerative motor disorders: A comparison between amyotrophic lateral sclerosis, Parkinson's and Huntington's disease. Poletti B, Solca F, Maffi S, Torre S, Carelli L, Aiello EN, Ferrucci R, Priori A, Monti A, Verde F, Ticozzi N, Migliore S, Scaricamazza E, Casella M, Squitieri F, Ciammola A, Silani V. Front Aging Neurosci. 2022 Nov 2;14:1031908. doi: 10.3389/fnagi.2022.1031908. eCollection 2022. PMID: 36408105 Free PMC

article.

 

o   Current Diagnostic Methods and Non-Coding RNAs as Possible Biomarkers in Huntington's Disease. Pellegrini M, Bergonzoni G, Perrone F, Squitieri F, Biagioli M. Genes (Basel). 2022 Nov 3;13(11):2017. doi: 10.3390/genes13112017. PMID: 36360254 Free PMC article. Review.

 

o   Early liver steatosis in children with pediatric Huntington disease and highly expanded CAG mutations. Squitieri F*, Monti L, Graziola F, Colafati GS, Sabatini U. Parkinsonism Relat Disord. 2022 Oct;103:102-104. doi: 10.1016/j.parkreldis.2022.08.027. Epub 2022 Aug 28. PMID: 36096016

No abstract available.

 

o   Sleep Quality and Related Clinical Manifestations in Huntington Disease. Maffi S, Scaricamazza E, Migliore S, Casella M, Ceccarelli C, Squitieri F*. J Pers Med. 2022 May 25;12(6):864. doi: 10.3390/jpm12060864. PMID: 35743649 Free PMC article.

 

o   "Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. Graziola F, Maffi S, Grasso M, Garone G, Migliore S, Scaricamazza E, Ceccarelli C, Casella M, Busi L, D'Alessio B, De Luca A, Colafati GS, Sabatini U, Capuano A, Squitieri F*. J Pers Med. 2022 Jan 17;12(1):120. doi: 10.3390/jpm12010120. PMID: 35055435 Free PMC article.

 

o   Cognitive Reserve in Early Manifest Huntington Disease Patients: Leisure Time Is Associated with Lower Cognitive and Functional Impairment. Migliore S, D'Aurizio G, Scaricamazza E, Maffi S, Ceccarelli C, Ristori G, Romano S, Castaldo A, Fichera M, Curcio G, Squitieri F*. J Pers Med. 2022 Jan 3;12(1):36. doi: 10.3390/jpm12010036. PMID: 35055351 Free PMC article.

 

o   Arithmetic Word-Problem Solving as Cognitive Marker of Progression in Pre-Manifest and Manifest Huntington's Disease. Horta-Barba A, Martinez-Horta S, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Júlio F, Janurio C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Wallner R, Nuzzi A, Pagonabarraga J, Kulisevsky J; on behalf the Cognitive Phenotype Working Group of the European Huntington’s Disease Network. J Huntingtons Dis. 2021;10(4):459-468. doi: 10.3233/JHD-210480. PMID: 34602494

 

o   Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach. van Lonkhuizen PJC, Vegt NJH, Meijer E, van Duijn E, de Bot ST, Klempíř J, Frank W, Landwehrmeyer GB, Mühlbäck A, Hoblyn J, Squitieri F, Foley P, Chavannes NH, Heemskerk AW. Front Neurol. 2021 Sep 13;12:719460. doi: 10.3389/fneur.2021.719460. eCollection 2021. PMID: 34589047 Free PMC article.

 

o   Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington's Disease: A Survey Conducted by the European Huntington Association. Júlio F, Blanco R, Casanova JP, D'Alessio B, De Schepper B, De Sousa D, De Sousa P, Ferreira C, Gommans H, Haselberg R, Hermant E, Lis D, Maffi S, Olsen SO, Papantoniou M, Squitieri F, Tretyakova M,

Umakhanova Z, Václavík V, Winkelmann M, Arnesen A, On Behalf Of The European Huntington Association. J Pers Med. 2021 Aug 20;11(8):815. doi: 10.3390/jpm11080815. PMID: 34442459 Free PMC article.

 

o   Modeling Manifest Huntington's Disease Prevalence Using Diagnosed Incidence and Survival Time. Crowell V, Houghton R, Tomar A, Fernandes T, Squitieri F. Neuroepidemiology. 2021 Jul 15:1-8.

 

o   Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross- sectional study. Migliore S, D'Aurizio G, Maffi S, Ceccarelli C, Ristori G, Romano S, Castaldo A, Mariotti C, Curcio G, Squitieri F*. Brain Behav. 2021 Jun 10:e02151. doi: 10.1002/brb3.2151. Online ahead of print.

 

o   Compensating for verbal-motor deficits in neuropsychological assessment in movement disorders: sensitivity and specificity of the ECAS in Parkinson's and Huntington's diseases. Carelli L, Solca F, Migliore S, Torre S, Brugnera A, Mancini F, Tagini S, Ferrucci R, Maffi S, Ceccarelli C, Pasquini J, Sassone J, Squitieri F, Ciammola A, Silani V, Poletti B. Neurol Sci. 2021.

 

o   Validity of the Italian multiple sclerosis neuropsychological screening questionnaire. Migliore S, Landi D, Proietti F, D'Aurizio G, Squitieri F, Mataluni G, Nicoletti CG, Curcio G, Marfia GA. Neurol Sci. 2021.

 

o   A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT). De Luca A, Morella A, Consoli F, Fanelli S, Thibert JR, Statt S, Latham GJ, Squitieri F*. Int J Mol Sci. 2021 Feb 8;22(4):1689. doi: 10.3390/ijms22041689. PMID: 33567536 Free article.

 

o   Known Drugs Identified by Structure-Based Virtual Screening Are Able to Bind Sigma-1 Receptor and Increase Growth of Huntington Disease Patient-Derived Cells. Battista T, Pascarella G, Staid DS, Colotti G, Rosati J, Fiorillo A, Casamassa A, Vescovi AL, Giabbai B, Semrau MS, Fanelli S, Storici P, Squitieri F, Morea V, Ilari A. Int J Mol Sci. 2021 Jan 28;22(3):1293. doi: 10.3390/ijms22031293. PMID: 33525510 Free PMC article.

 

o   Abnormal visual scanning and impaired mental state recognition in pre-manifest Huntington disease. Olivetti Belardinelli M, Hünefeldt T, Meloni R, Squitieri F, Maffi S, Migliore S. Exp Brain Res. 2021 Jan;239(1):141-150. doi: 10.1007/s00221-020-05957-x. Epub 2020 Nov 1. PMID: 33130907.

 

o   Sorcin is an early marker of neurodegeneration, Ca²⁺ dysregulation and endoplasmic reticulum stress associated to neurodegenerative diseases. Genovese I, Giamogante F, Barazzuol L, Battista T, Fiorillo A, Vicario M, D'Alessandro G, Cipriani R, Limatola C, Rossi D, Sorrentino V, Poser E, Mosca L, Squitieri F, Perluigi M, Arena A, van Petegem F, Tito C, Fazi F, Giorgi C, Calì T, Ilari A, Colotti G. Cell Death Dis. 2020 Oct 15;11(10):861. doi: 10.1038/s41419-020-03063-y. PMID: 33060591 Free

PMC article.

 

o   Mitochondrial Respiration Changes in R6/2 Huntington's Disease Model Mice during Aging in a Brain Region Specific Manner. Burtscher J, Di Pardo A, Maglione V, Schwarzer C, Squitieri F. Int J Mol Sci. 2020 Jul 30;21(15):5412. doi: 10.3390/ijms21155412. PMID: 32751413

 

o   Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range. Findlay Black H, Wright GEB, Collins JA, Caron N, Kay C, Xia Q, Arning L, Bijlsma EK, Squitieri F, Nguyen HP, Hayden MR. Genet Med. 2020 Aug 3. doi: 10.1038/s41436-020-0917-z. Online ahead of print.

 

o   Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study. Squitieri F*, Maffi S, Al Harasi S, Al Salmi Q, D'Alessio B, Capelli G, Mazza T. J Neurol Neurosurg Psychiatry. 2020 Jul 31:jnnp-2020-323241. doi: 10.1136/jnnp-2020- 323241. Online ahead of print. PMID: 32737262 No abstract available.

 

o   Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East. Squitieri F*, Mazza T, Maffi S, De Luca A, AlSalmi Q, AlHarasi S, Collins JA, Kay C, Baine-Savanhu F, Landwhermeyer BG, Sabatini U, Hayden MR. Genet Med. 2020 Jul 14. doi: 10.1038/s41436-020-0895-1. Online ahead of print.

o   Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease. Martinez-Horta S, Horta-Barba A, Perez-Perez J, Sampedro F, de Lucia N, De Michele G, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, Rodriguez N, Martinez-Descals A, Garcia-Ruiz P, Júlio F, Januário C, Delussi M, de Tommaso M, Noguera S, Ruiz-Idiago J, Sitek EJ, Nuzzi A, Pagonabarraga J, Kulisevsky J; Cognitive Phenotype Working Group of the European Huntington’s Disease Network. J Neurol. 2020 May;267(5):1527-1535. doi: 10.1007/s00415-020-09730-6. Epub 2020 Feb 7.

 

o   Emotion recognition and inhibitory control in manifest and pre-manifest Huntington's disease: evidence from a new Stroop task. Hunefeldt T, Maffi S, Migliore S, Squitieri F, Belardinelli MO. Neural Regen Res. 2020 Aug;15(8):1518-1525. doi: 10.4103/1673-5374.274342.

 

o   Kay C, Collins JA, Caron NS, Agostinho LA, Findlay-Black H, Casal L, Sumathipala D, Dissanayake VHW, Cornejo-Olivas M, Baine F, Krause A, Greenberg JL, Paiva CLA, Squitieri F, Hayden MR. A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. Am J Hum Genet. 2019 Nov 4. pii: S0002-9297(19)30399-4. doi: 10.1016/j.ajhg.2019.10.011. [Epub ahead of print] PubMed PMID: 31708117.

 

o   Bidollari E, Rotundo G, Altieri F, Amicucci M, Wiquel D, Ferrari D, Goldoni M, Bernardini L, Consoli F, De Luca A, Fanelli S, Lamorte G, D'Agruma L, Vescovi AL, Squitieri F, Rosati J. Generation of induced pluripotent stem cell line CSSi008-A(4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA). Stem Cell Res. 2019 Aug 27;40:101551.

 

o   Bachoud-Lévi AC, Ferreira J, Massart R, Youssov K, Rosser A, Busse M, Craufurd D, Reilmann R, De Michele G, Rae D, Squitieri F, Seppi K, Perrine C, Scherer-Gagou C, Audrey O, Verny C, Burgunder JM. International Guidelines for the Treatment of Huntington's Disease. Front Neurol. 2019 Jul 3;10:710. doi: 10.3389/fneur.2019.00710. eCollection 2019. PubMed PMID: 31333565; PubMed Central PMCID: PMC6618900.

 

o   Migliore S, Jankovic J, Squitieri F*. Genetic Counseling in Huntington's Disease: Potential New Challenges on Horizon? Front Neurol. 2019 Apr 30;10:453. doi: 10.3389/fneur.2019.00453. eCollection 2019. PubMed PMID: 31114543; PubMed Central PMCID: PMC6503085.

 

o   Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K,Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability,Hastening Onset of Huntington Disease. Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16. PubMed PMID: 31104771; PubMed Central PMCID: PMC6556907.

 

o   D'Aurizio G, Migliore S, Curcio G, Squitieri F. Safer Attitude to Risky Decision-Making in Premanifest Huntington's Disease Subjects. Front Psychol. 2019 Apr 16;10:846. doi: 10.3389/fpsyg.2019.00846. eCollection 2019. PubMed PMID:31057466; PubMed Central PMCID: PMC6477566.

 

o   Horton MC, Nopoulos P, Nance M, Landwehrmyer GB, Barker RA, Squitieri F; REGISTRY Investigators of the European Huntington’s Disease Network, Burgunder JM, Quarrell O. Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease. J Huntingtons Dis. 2019;8(2):181-193. doi: 10.3233/JHD-180306. PubMed PMID: 30856116.

 

o   Quarrell OWJ, Nance MA, Nopoulos P, Reilmann R, Oosterloo M, Tabrizi SJ, Furby H, Saft C, Roos RAC, Squitieri F, Landwehrmeyer GB, Burgunder JM; Juvenile Huntington Disease Working Group of the European Huntington Disease Network.Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease? Mov Disord. 2019 Apr;34(4):584-585. doi: 10.1002/mds.27640. Epub 2019 Feb 20. PubMed PMID: 30788860.

 

o   Marano M, Migliore S, Squitieri F, Insola A, Scarnati E, Mazzone P. CM-Pf deep brain stimulation and the long term management of motor and psychiatric symptoms in a case of Tourette syndrome. J Clin Neurosci. 2019 Jan 3. pii: S0967-5868(18)32058-7. doi: 10.1016/j.jocn.2018.12.029. [Epub ahead of print]

o   Reilmann R, McGarry A, Grachev ID, Savola JM, Borowsky B, Eyal E, Gross N, Langbehn D, Schubert R, Wickenberg AT, Papapetropoulos S, Hayden M, Squitieri F, Kieburtz K, Landwehrmeyer GB; European Huntington's Disease Network; Huntington Study Group investigators. Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study. Lancet Neurol. 2018 Dec

14. pii: S1474-4422(18)30391-0. doi: 10.1016/S1474-4422(18)30391-0. [Epub ahead of print]

 

o   Castaldo I, De Rosa M, Romano A, Zuchegna C, Squitieri F, Mechelli R, Peluso S, Borrelli C, Del Mondo A, Salvatore E, Vescovi LA, Migliore S, De Michele G, Ristori G, Romano S, Avvedimento EV, Porcellini A. DNA damage signatures in peripheral blood cells (PBMC) as biomarkers in prodromal Huntington's disease. Ann Neurol. 2018 Dec 14. doi: 10.1002/ana.25393. [Epub ahead of print]

 

o   Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE; within REGISTRY Investigators of the European Huntington's Disease Network; Registry Steering committee; Language coordinators; EHDN's associate site in Singapore. Clinical and genetic characteristics of late-onset Huntington's disease. Parkinsonism Relat Disord. 2018 Nov 29. pii: S1353-8020(18)30490-5.

 

o   Belardinelli MO, Huenefeldt T, Maffi S, Squitieri F*, Migliore S. Effects of Stimulus-Related Variables on Mental States Recognition in Huntington'S Disease. Int J Neurosci. 2018 Nov 27:1-21. doi: 10.1080/00207454.2018.1552691.

 

o   Migliore S, Curcio G, Porcaro C, Cottone C, Simonelli I, D'aurizio G, Landi D, Palmieri MG, Ghazaryan A, Squitieri F, Filippi MM, Vernieri F. Emotional processing in RRMS patients: Dissociation between behavioural and neurophysiological response. Mult Scler Relat Disord. 2018 Nov 19;27:344-349. doi: 10.1016/j.msard.2018.11.019. [Epub ahead of print].

 

o   Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F*. Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis. Lancet Neurol. 2018 Nov;17(11):986-993.

 

o   Migliore S, D'Aurizio G, Curcio G, Squitieri F. Task-switching abilities in pre-manifest Huntington's disease subjects. Parkinsonism Relat Disord. 2018 Sep pii: S1353-8020(18)30392-4.

 

o   McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P,Jones L; (within 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.

 

o   Gatto E, Parisi V, Persi G, Rey EF, Cesarini M, Etcheverry JL, Rivera P, Squitieri F. Optical coherence tomography (OCT) study in Argentinean Huntington's disease patients. Int J Neurosci. 2018 Jun 18:1-18.

 

o   Rotundo G, Bidollari E, Ferrari D, Spasari I, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Migliore S, Squitieri F, Vescovi AL, Rosati J.Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease. Stem Cell Res. 2018 May;29:174-178.

 

o   Zarotti N, Simpson J, Fletcher I, Squitieri F, Migliore S. Exploring emotion regulation and emotion recognition in people with presymptomatic Huntington's disease: The role of emotional awareness. Neuropsychologia. 2018 Apr;112:1-9.

 

o   Bidollari E, Rotundo G, Ferrari D, Candido O, Bernardini L, Consoli F, De Luca A, Santimone I, Lamorte G, Ilari A, Squitieri F, Vescovi AL, Rosati J. Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage. Stem Cell Res. 2018 Apr;28:145-148.

 

o   Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR. The molecular epidemiology of Huntington disease is related