Collaborazioni Internazionali

-    Prof. Jean Paul G. Vonsattel, director of the New York Brain Bank (NYBB) at Columbia University. Professor Vonsattel is full professor of pathology and has brought new methods of standardizing tissue collection and storage to the bank; he leads the largest Brain Bank on Huntington disease in the world. (Analisi di campioni biologici da cervelli umani di pazienti con Corea di Huntington)
-    Prof. Flint M. Beal at Weill Medical College of Cornell University. Professor Beal is an internationally recognized authority on neurodegenerative disorder; his research is focused on the mechanisms underlying neuronal degeneration, oxidative damage and metabolomics in HD (Analisi di campioni biologici di muscolo di pazienti con corea di Huntington)
-     Prof. David C. Rubinsztein, full professor of Molecular Neurogenetics at the University of Cambridge. Professor Rubinsztein is an outstanding scientist who has made important contributions to the understanding of HD pathogenetic mechanisms. Using a wide range of biological systems, he has established a scientific basis for exploring possible therapies for this disease. (Analisi di soggetti omozigoti con Corea di Huntington e alterazioni della sostanza Bianca in Corea di Huntington).
-    Dr. Simonetta Sipione, assistant professor at University of Alberta, Edmonton Canada.  Dr. Sipione is an outstanding young scientist who is significantly contributing to determine the role of lipid metabolism dysfunction in HD. (studio di modello YAC128 di topo transgenico di Corea di Huntington).
-    Prof. James Gusella, full professor of Neurogenetics at Harvard Medical School in Boston, USA, leading the project HDMAPS for genome wide research and gene modifiers in HD, to whom Dr Squitieri actively takes part. (Studio di geni modificatori in Corea di Huntington – Progetto HD-MAPS).
-    Prof. Joseph Jankovic, full professor of Neurology at the Baylor College of Medicine in Huston, USA, contributing to the role of intermediate alleles to HD phenotype (Studio di endofenocopie in Corea di Huntington)

Collaborazioni con gruppi Italiani
-    Dr Umberto Sabatini, Dip Neuroradiologia IRCCS Santa Lucia, Roma. Ricerca di nuovi biomarkers cerebrali in Corea di Huntington con RMN 3T con approccio multimodale
-    Dr Andrea Ciarmiello, Dip Medicina Nucleare, Ospedale Sant’Andrea, La Spezia. Ricerca di nuovi biomarkers cerebrali in Corea di Huntington con FDG-PET con approccio dinamico.
-    Dr.ssa Stefania Crispi, Istituto di Genetica e Biofisica CNR, Napoli. Studio di espressione genica con micro array in Corea di Huntington.
-    Dr Andrea Ciammola, Dip Neurologia, IRCCS Auxologico, Milano. Studio biomarkers in cellule muscolari periferiche.
-    Dr Maurizio D’Esposito, Istituto di Genetica e Biofisica CNR, Napoli. Diagnostica Genetica avanzata in patologie del Sistema Nervoso.

Partecipazione a network nazionali e internazionali
•    European Huntington Disease Network – EURO – HD
•    Huntington Study Group – HSG

-    ”Benign essential tremor. A clinical survey of 82 patients from Campania, a region of southern Italy”A. Mengano, L. Di Maio, MA. Maggio, F. Squitieri, M. Di Donato, F. Barbieri, G. Campanella. Acta Neurol Aug 11(4):239-46, 1989.
-    ”Primitive status epilepticus in the ederly”. G. Liguori, R.Dell’Aversana, F.Squitieri. Boll. Lega It. Epil. 70-71: 493-94, 1990.
-    ”An ambulatory regional center for extrapyramidal and cerebellar disorder. 10 years’ experience in Campania”G. Campanella” L. Di Maio, A. Mengano, F. Squitieri, G. De Michele, A. Filla. Riv Neurol. 1990 May-Jun;60(3):125-9.
-    ”Genetic linkage analisys and presymptomatic testing in Huntington’s disease. First report in Italy” L. Di Maio, S. Boiano, F. Squitieri, G. Napolitano,S. Cocozza, G. Campanella, G. Battistuzzi. Acta Neurol 1992 Aug- Dec:14(4-6):524-9.
-    ”A double-blind cross-over trial of amantadine hydro Friedreich’s ataxia”A. Filla, G. De Michele, G. Orefice, F. Santorelli, L. Trombetta, S. Banfi, F. Squitieri, G. Napolitano, D. Puma, G. Campanella. Can J Neurol Sci. 1993 Feb;20(1):52-5.
-    ”Onset symptoms in 510 patients with Huntington’s disease” L. Di Maio, F. Squitieri, G. Napolitano, G. Campanella, JA. Trofatter, J Med Genet. 1993 Apr;30(4):289-92.
-    ”Suicide risk in Huntington’s Disease”L. Di Maio, F. Squitieri, G. Napolitano, G. Campanella, JA. Trofatter, J Med Genet. 1993 Apr;30(4):293-5.
-    ”The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease” SE. Andrew,  YP. Goldberg, B. Kremer,  H. Telenius, J. Theilmann, S. Adam, E. Starr, F. Squitieri, B. Lin, MA: Kalchman, et al. Nat Genet. 1993 Aug; 4(4):398-403.
-    ”Molecular analisys of a new mutations for Huntington’s disease:intermediate alleles and sex of origin effects” YP. Goldberg, B. Kremer,  SE. Andrew, J. Theilmann, RK Graham, F. Squitieri, H. Telenius, S. Adam,A. Sajoo, E. Starr, et al. Nat Genet. 1993Oct;5(2):174-9.
-    ”Molecular analisys of juvenile Huntington disease:the major influence on (CAG)n repeat length is the sex of the affected parent” H.Telenius, HP. Kremer, J. Theilmann, SE. Andrew, E. Almqvist,M. Anvret, C. Greenberg, J. Greenberg, G. Lucotte, F. Squitieri, et al. Hum Mol Genet.1993 Oct;2(10):1535-40.
-    ”Familial predisposition to recurrent mutations causing Huntington’s disease:genetic risk to sibes of sporadic cases” YP. Goldberg, SE. Andrew, J. Theilmann, B. Kremer, F. Squitieri, H.Telenius, JD. Brown, MR. Hayden. J Med Genet. 1993 Dec;30(12):987-90.
-    ”Molecolar analisys of late onset Huntington’s disease” B. Kremer, F. Squitieri, H.Telenius, SE. Andrew, J. Theilmann,N. Spence, YP. Goldberg,MR. Hayden. J Med Genet. 1993 Dec;30(12):991-5
-    ”Huntington disease without CAG expansion: phenocopies or errors in assignment?” SE. Andrew, YP. Goldberg, B. Kremer, F. Squitieri, J. Theilmann, J. Zeisler, H.Telenius, S. Adam,  E Almqvist, et al. Am J Hum Genet 1994 May:54(5):852-63
-    ”A Wordwide study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats” B. Kremer, P. Goldberg, SE. Andrew, J. Theilmann, H. Telenius, J. Zeisler, F. Squitieri, B. Lin, A. Basset, E Almqvist, et al. N Engl J Med 1994 May;19;330(20):1401-6
-    ”Polymorphism analisys of the huntingtin gene in italin families affected with Huntington disease”A. Novelleto, F. Persiscetti, G. Sabbadini, P. Mandich, E. Bellone, F. Ajmar, F. Squitieri, G. Campanella, A. Bozza, ME. MacDonald, et al. Hum Mol Genet.1994 Jul;3(7):1129-32
-    ”Proceed with care: direct predictive testing for Huntington disease”CM. Benjamin, S. Adam, S. Wiggins, JL. Theilmann, TT. Copley, M. Bloch, F. Squitieri, W. McKellin, S. Cox, Sa. Brown, et al. Am J Hum Genet. 1994 Oct;55(4):606-17.
-    ”DNA haplotype analisys of Huntington desease reveals clues to the origins and mechanisms of CAG expansion and reasons of geographic variations of prevalence” F. Squitieri, SE. Andrew, YP Goldberg, B. Kremer, N. Spence, J. Zeisler, K. Nichol, J. Theilmann, J. Greenberg, J. Goto, at al. Hum Mol Genet 1994 Dec;3 (12):2103-14
-    ”Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease” H.Telenius, E.Almqvist, B.Kremer, N.Spence, F.Squitieri, K.Nichol, U.Grandell, E.Starr, C.Benjamin, I.Castaldo, O.Calabrese, M.Anvret, YP Goldberg, MR Hayden.  Hum Mol Genet  1995, vol 4, No 2, 189-195.
-    ”Update on genetics of Huntington disease: direct and accurate Predictive test availability”. F. Squitieri, G. Campanella, M.R. Hayden. The Italian Journal of Neurological Sciences, 1996, 17: 185-87.
-    “Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers”. B. Giovannone, G. Sabbadini, L. Di Maio, O. Calabrese, I. Castaldo, M. Frontali, A. Novelletto and F. Squitieri. Human Mutation, vol.10, 1997.
-    ”Huntington’s chorea: IBZM SPECT role in preclinical diagnosis”. D. Giobbe, F. Squitieri, G.C. Castellano. SPECT in Neurology and Psychiatry, edited by PP De Deyn, RA Derckx, A Alavi, BA Pickut. 1997, John Libbey & Company Ltd.; Capitolo 5, pp. 33-38.
-    “Atypical movement disorder at the first stages of Huntington disease: clinical and genetic analysis”. F. Squitieri* et al., Clin Genet  2000, 58: 50-56.
-    “Cavernous angiomas of the Nervous System in Italy: clinical and genetic study”. F. Squitieri* et al., Neurol Sci 2000, 21: 129-134.
-    ”Family and molecular data for a fine analisys of age at onset in Huntington disease” F. Squitieri, G. Sabbadini, P. Mandich, C. Gellera, E. De Maria, E. Bellone, B. Castellotti, E. Nargi, U. de Grazia, M. Frontali, A. Novelleto. Am J Med Genet  2000 Dec 11;95(4):366-73.
-    “Short-term effects of Olanzapine in Huntington disease”. F. Squitieri* et al. Neuropsyc Neuropsych and Behav Neurol  2001; Vol. 14, 1.
-    “Mutation of the PRNP gene at codon 211 in the familial Creutzfeldt-Jakob Disease”. A Ladogana, S Almonti, R Petraroli, E Giaccaglini, C Ciarmatori, QG Liù, S Bevivino, F Squitieri, M Pocchiari. Am J Med Genet 2001 Oct 1;103 (2):133-7.
-    ” Presymptomatic testing Huntington’s disease and dominant ataxia” M. Cannella, M. Simonelli,C. D’Alessio, F. Pierelli, S. Ruggieri, F. Squitieri*. Neurol Sci. 2001 Feb;22(1):55-6.
-    ”Loss of normal huntingtin function: new developments in Huntington’s disease research”. E. Cattaneo, D. Rigamonti, D. Goffredo, C. Zuccato, F. Squitieri, S. Sipione. Trends in Neuroscience  2001; 24: 1-8.
-    “The prolonged cortical silent period in patients with Huntington’s disease”. N. Modugno, A. Curra’, A. Priori, M.  Giovannelli, F. Squitieri, S. Ruggieri, M. Manfredi, A. Berardelli. Clin Neurophisiol. 2001 Aug;112(8):1470-4.
-    “Onset and pre-onset studies to define the Huntington’s disease natural history”. F. Squitieri*, M. Cannella, P. Giallonardo, V. Maglione, C. Mariotti, M.R. Hayden. Brain Res Bull  2001 Oct-Nov 1;56(3-4):233-8. Review.
-    “Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset” V. Bonifati, GJ. Breedveld, F. Squitieri,N. Vanacore, P. Brustenghi, BS. Harhangi,P. Montagna, M. Cannella, G. Fabbrini, P. Rizzu, CM. Van Duijn, BA. Oostra,G. Meco, P. Heutink. Ann Neurol 2002 Feb;51(2):253-6.
-    ”Autosomal recessive early onset parkinsonism is linked to three loci: PARK2,PARK6 and PARK7” V. Bonifati , MC. Dekker , N. Vanacore,  G. Fabbrini, F. Squitieri, R. Marconi, A. Antonini, P. Brustenghi, A Della Libera, M De Mari, F. Stocchi, P. Montagna, V. Gallai, P. Rizzu, JC. Van Swieten, B. Oostra, CM. Van Duijn, G. Meco, P. Heutink. Neurol Sci. 2002 Sep;23 Suppl 2:S59-60.
-    ”CAG mutation effect on rate of progression in Huntington’s disease” F. Squitieri*, M. Cannella, M. Simonelli. Neurol Sci. 2002 Sep;23 Suppl 2:s106-107.
-    “Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism” V. Bonifati, P. Rizzu,MJ. Van Baren, O. Schaap, GJ. Breedveld,E. Krieger,MC. Dekker, F. Squitieri, P. Ibanez, M. Joosse, JW. Van Dongen, N. Vanacore, JC. Van Swieten, F. Squitieri, A. Brice, G. Meco, CM. Van Duijn, BA. Oostra, P. Heutink. Science  2003 Jan 10;299(5604):256-9.
-    ”Homozygosity for CAG mutation in Huntington Disease is associated with a more severe clinical course” F. Squitieri*, C. Gellera, M. Cannella, C. Mariotti, G. Cislaghi,  DC. Rubinsztein, EW. Almqvist, D. Turner, AC. Bachoud-Levi, SA. Simpson, M. Delatycki,V. Maglione,  MR. Hayden, SD. Donato. Brain 2003 Apr;126(Pt4):946-55.
-    “Highly disabling, “cerebellar”, juvenile-onset Huntington disease” F. Squitieri*, G. Pustorino, M. Cannella, A. Toscano, V. Maglione, L. Morgante, G. Tortorella. Eur J Neurol 2003, 10(4):443-44.
-    « Linee guida nel consiglio genetico in relazione alla eterogeneità fenotipica : il caso della malattia di Huntington ». F. Squitieri*. Neurol Sci 2003, 24, S667-S669
-    “Italian Huntington disease data and tissues bank” F. Squitieri*, M. Cannella, L. Gaudio, T. Martino, V. Maglione, P. Giallonardo, M. Simonelli, A. Ciarmiello, G. Simonelli, D. Mangeruga, F. Pierelli. Neurol Sci 2003, 24 (3): 216-216.
-    “Aberrant A2A receptor function in peripheral blood cells in Huntington’s disease” K. Varani, M.P. Abbracchio, M. Cannella, G. Cislaghi, P. Giallonardo, C. Mariotti, E. Cattabriga, F. Cattabeni, P.A. Borea and F. Squitieri*, E. Cattaneo*. FASEB J 2003, 17(14):2148-50.
-    “Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations”. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Am J Hum Genet; 2003, 73(6):1459-64.
-    “DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism”. Bonifati V, Rizzu P, Squitieri F, Krieger E, Vanacore N, van Swieten JC, Brice A, van Duijn CM, Oostra B, Meco G, Heutink P. Neurol Sci. 2003 Oct;24(3):159-60.
-    “Predictive testing for person at risk for homozygosity for GAG expansion in the Huntington disease gene”. F. Squitieri*, Almqvist EW, Cannella M, Cislaghi G Hayden MR. Clin Genet 2003; 64 (6): 524.
-    “The gender effect in juvenile Huntington disease patients of Italian origin” . M. Cannella, C. Gellera, V. Maglione, P. Giallonardo, G. Cislaghi, M. Muglia, A. Quattrone, F. Pierelli, S. Di Donato and F. Squitieri*. Am J Med Genet 2004, 15B: 92-98.
-    “Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families”. C. Mariotti, C. Gellera, M. Rimoldi, R. Mineri, G. Uziel, G. Zorzi, D. Pareyson, G. Piccolo, D. Gambi, S. Piacentini, F. Squitieri, R. Capra, B. Castellotti, S. Di Donato. Neurol Sci 2004, 25:130-137.
-    “New Huntington disease mutation arising from a paternal CAG34 allele showing somatic length variation in serially passaged lymphoblasts”.  M. Cannella, V. Maglione, T. Martino, M. Simonelli, G. Ragona, and F. Squitieri*. Am J Med Genet  2005, 133B:127-130.
-    “Novel parkin mutation detected in patients with early-onset Parkinson’s disease”. AM. Bertoli-Avella, JL. Giroud-Benitez, H. Ulucan, E. Barbosa, O. Schaap, H.C. van der Linde, E. Martignoni, L. Lopiano, P. Lamberti, E. Fincati, A. Antonini, F. Stocchi, P. Montagna, F. Squitieri, et al., Mov Disord 2005, 20(4): 424-431.
-    “Adenosine A(2A) receptor dysfunction correlates with age at onset anticipation in blood platelets of subjects with Huntington’s disease”. V. Maglione,  P. Giallonardo,  M. Cannella, T. Martino, L. Frati, and F.Squitieri*. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139(1):101-105.
-    ”Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington Disease at 6q23-24: the HD MAPS Study”. Li JL, Hayden MR, Warby SC, Durr A, Morrison PJ, Nance M, Ross CA, Margolis RL, Rosenblatt A, Squitieri F, Frati L, Gomez-Tortosa E, Garcia CA, Suchowersky O, Klimek ML, Trent RJ, McCusker E, Novelletto A, Frontali M, Paulsen JS, Jones R, Ashizawa T, Lazzarini A, Wheeler VC, Prakash R, Xu G, Djousse L, Mysore JS, Gillis T, Hakky M, Cupples LA, Saint-Hilaire MH, Cha JH, Hersch SM, Penney JB, Harrison MB, Perlman SL, Zanko A, Abramson RK, Lechich AJ, Duckett A, Marder K, Conneally PM, Gusella JF, Macdonald ME, Myers RH. BMC Med Genet. 2006 Aug 17;7(1):71.
-    ”Genotype-dependent priming to self- and xeno-cannibalism in heterozygous and homozygous lymphoblasts from patients with Huntington’s disease”. Mormone E, Matarrese P, Tinari A, Cannella M, Maglione V, Farrace MG, Piacentini M, Frati L, Malorni W, Squitieri F. J Neurochem. 2006 Aug;98(4):1090-9.
-    ”DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor”. Zhong N, Kim CY, Rizzu P, Geula C, Porter DR, Pothos EN, Squitieri F, Heutink P, Xu J. J Biol Chem. 2006 Jul 28;281(30):20940-8.
-    ”Increased apoptosis, huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington’s disease subjects”. Ciammola A*, Sassone J, Alberti L, Meola G, Mancinelli E, Russo MA, Squitieri F*, Silani V. Cell Death Differ. 2006 (13), 2068-2078.
-    ”The search for cerebral biomarkers of Huntington’s disease: a review of genetic models of age at onset prediction”. Squitieri F*, Ciarmiello A, Di Donato S, Frati L. Eur J Neurol. 2006 Apr;13(4):408-15. Review.
-    ”Brain White-Matter Volume Loss and Glucose Hypometabolism Precede the Clinical Symptoms of Huntington’s Disease”. Ciarmiello A*, Cannella M, Lastoria S, Simonelli M, Frati L, Rubinsztein DC, Squitieri F*. J Nucl Med. 2006 Feb;47(2):215-222.
-    “Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus”. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Hum Mutat. 2006 Jan;27(1):118.
-    ”Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington’s disease mutation”. Maglione V, Cannella M, Gradini R, Cislaghi G, Squitieri F*. Mech Ageing Dev. 2006. Feb;127(2):213-6.
-    ”Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation”. Squitieri F*, Cannella M, Sgarbi G, Maglione V, Falleni A, Lenzi P, Baracca A, Cislaghi G, Saft C, Ragona G, Russo MA, Thompson LM, Solaini G, Fornai F. Mech Ageing Dev. 2006 Feb;127(2):213-6.
-    ”Juvenile Huntington’s disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?”. Squitieri F*, Frati L, Ciarmiello A, Lastoria S, Quarrell O. Mech Ageing Dev. 2006. Feb;127(2):208-12.  Review.
-    ”The platelet maximum number of A2A-receptor binding sites (Bmax) linearly correlates with age at onset and CAG repeat expansion in Huntington’s disease patients with predominant chorea”. Maglione V, Cannella M, Martino T, De Blasi A, Frati L, Squitieri F*. Neurosci Lett. 2006 Jan 23;393(1):27-30.
-    ”Deletions in CCM2 are a common cause of cerebral cavernous malformations”.  Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Am J Hum Genet. 2007 Jan;80(1):69-75.
-    ”Low brain-derived neurotrophic factor (BDNF) levels in serum of Huntington’s disease patients”. Ciammola A, Sassone J, Cannella M, Calza S, Poletti B, Frati L, Squitieri F,  Silani V. Am J Med Genet B Neuropsychiatr Genet, 2007; 144(4): 574-7.
-    ”The relationship between CAG repeat length and age at onset differs for Huntington’s disease patients with juvenile onset or adult onset”. Andresen et al., (F. Squitieri, within the HD-MAPS Collaborative Research Group). Ann Hum Genet, 2007 May;71(Pt 3):295-301.
-    ”Highly variable penetrance in subjects affected with Cavernous Cerebral Angiomas (CCM) carrying novel CCM1 and CCM2 mutations”. Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Vitale E,  Liquori CL, Marchuk DA, Squitieri F*. Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144(5):691-5.
-    ”ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease”. Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G,Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, et al. Neurology. 2007 May 8;68(19):1557-62.
-    “Riluzole in Huntington’s disease: a 3-year, randomized controlled study”. Landwehrmeyer B et al., (F. Squitieri, within the European Huntington’s disease initiative study group). Ann Neurol 2007 Sep;62(3):262-72
-     “De novo seven extra-repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia”. Cannella M, Martino T, Simonelli M, Ciammola A, Gradini R, Ciarmiello A, Gianfrancesco F, Squitieri F*. J Neurol Neurosurg Psychiatry. 2007 Dec;78(12):1411-3.
-    “Reduced activity of striatal glutamatergic fibres in the R6/2 mouse model of Huntington’s disease”. A Traficante, B Riozzi, M Cannella, F Squitieri and G Battaglia. Neuroreport 2007 Dec 3;18(18):1997-2000.
-    “Neuroprotective effects of riluzole in Huntington’s disease”. F Squitieri*, A Ciammola, C Colonnese, A Ciarmiello. Eur J Nucl Med 2008 Jan;35(1):221-2.
-    “Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts”. Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F*, Marchuk DA, Gianfrancesco F*. Neurogenetics. 2008 Feb;9(1):25-31.
-    “ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations”. Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F*. Neuroscience 2008 Aug 13;155(2):345-9.
-    “Molecular medicine: predicting and preventing Huntington’s disease”. Squitieri F*, Cannella M, Frati L. Neurol Sci. 2008 Sep;29(4):205-7. Review.
-    “Weight loss in Huntington disease increases with higher CAG repeat number”. Aziz NA, van der Burg JM, Landwehrmeyer GB, Brundin P, Stijnen T, Roos RA (F. Squitieri within the EHDI Study Group),. Neurology. 2008 Nov 4;71(19):1506-1.
-    “Aripiprazole in the treatment of Huntington’s Disease: a case series”. Ciammola A, Sassone J, Colciago C, Mencacci NE, Poletti B, Ciarmiello A, Squitieri F, Silani V. Neuropsych Dis and Treatment – 2009;5:1-4. Epub Apr 8
-    “Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?” Herishanu YO, Parvari R, Pollack Y, Shelef I, Marom B, Martino T, Cannella M, Squitieri F*. J Neurol Sci 2009; 277:143-146.
-    “Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers  of brain atrophy in Huntington’s disease”. Squitieri F, Cannella M, Simonelli M, Sassone J, Martino T, Venditti E, Ciammola A, Colonnese C, Frati L, Ciarmiello A. CNS Neurosci Ther. 2009 Winter;15(1):1-11
-    “DNA instability in replicating Huntington’s disease lymphoblasts”. Cannella M, Maglione V, Martino T, Ragona G, Frati L, Li GM, Squitieri F*. BMC Med Genet. 2009 Feb 11;10:11.
-    “Four novel SPG3A/atlastin mutations identified in AD-HSP kindreds with intra-familial age of onset and complex phenotype”. Bradley N Smith, Simon Bevan, Caroline Vance, Pamela Renwick, Phillip Wilkinson, Christos Proukakis, Squitieri F, Alfredo Berardelli, Thomas T Warner, Evan Reid, Christopher E Shaw. Clin Genet 2009 May;75(5):485-9.
-    “Juvenile Huntington’s Disease (and other trinucleotide repeat disorders)”. Quarrell OWJ, Brewer HM, Squitieri F, Barker RA, Nance MA, Landwehrmeyer BG. Oxford University Press, 2009.
-    “Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins”. Squitieri F*; Orobello S ; Cannella M; Martino T; Romanelli P; Giovacchini G; Frati L; Mansi L; Ciarmiello A*. Eur J Nucl Med Mol Imag 2009 Mar 11.
-    “Impaired PGC-1{alpha} function in muscle in Huntington’s disease.” Chaturvedi RK, Adhihetty P, Shukla S, Hennessy T, Calingasan N, Yang L, Starkov A, Kiaei M, Cannella M, Sassone J, Ciammola A, Squitieri F, Beal MF. Hum Mol Genet. 2009 May 21.
-    “AbetaPP Mutation Unbalances the Relative Proportion of Amyloid-beta Peptides“. Ghidoni R, Albertini V, Squitti R, Paterlini A, Bruno A, Bernardini S, Cassetta E, Rossini PM, Squitieri F, Benussi L, Binetti G. Novel T719P J Alzheimers Dis. 2009 Jul 7. [Epub ahead of print]
-    “Abnormal morphology of peripheral cell tissues from patients with Huntington disease”. Squitieri F*, Falleni A, Cannella M, Orobello S, Fulceri F, Lenzi P, Fornai F. J Neural Transm. 2009 Oct 16.
-    ”Early defect of transforming growth factorbeta-1 formation in Huntington’s disease” .Battaglia G, Cannella M, Riozzi B, Orobello S, Maat-Schieman ML, Aronica E,Busceti CL, Ciarmiello A, Alberti S, Amico E, Sassone J, Sipione S, Bruno V,Frati L, Nicoletti F, Squitieri. F J Cell Mol Med. 2010 Jan 15.
-    ”Key role of nuclear medicine in seeking biomarkers of Huntington’s disease”. Squitieri F*, Ciarmiello A. Eur J Nucl Med Mol Imaging. 2010 Jun;37(6):1124-7.
-    ”The European Huntington’s Disease Network. Factor analysis of behavioural symptoms in Huntington’s disease”. Rickards H, De Souza J, van Walsem M, van Duijn E, Simpson SA, Squitieri F, Landwehrmeyer B; J Neurol Neurosurg Psychiatry. 2011 Apr;82(4):411-412
-    “Seeking Brain Biomarkers for Preventive Therapy in Huntington Disease”. Esmaeilzadeh M, Ciarmiello A, Squitieri F. CNS Neurosci Ther. 2010 Jun 11.
-    ”Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY”.  Orth M; European Huntington’s Disease Network, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho A, Wild EJ, Tabrizi SJ.. PLoS Curr. 2010 Sep 28;2. pii:RRN1184.
-    “PET translates neurophysiology into images: A review to stimulate a networkbetween neuroimaging and basic research”. .Giovacchini G, Squitieri F, Esmaeilzadeh M, Milano A, Mansi L, Ciarmiello A. J Cell Physiol. 2011 Apr;226(4):948-61.
-    ”Caudate glucosehypometabolism in a subject carrying an unstable allele of intermediate CAG(33)repeat length in the Huntington’s disease gene”.  Squitieri F*, Esmaeilzadeh M, Ciarmiello A, Jankovic J.. Mov Disord. 2011 Mar 2.
-    “ Whole bodycholesterol metabolism is impaired in Huntingtońs disease”. Leoni V, Mariotti C, Nanetti L, Salvatore E, Squitieri F, Bentivoglio AR,Poggio MB, Piacentini S, Monza D, Valenza M, Cattaneo E, Di Donato S. Neurosci Lett. 2011Mar 12
-    ”What is the impact of education on Huntington’s disease?”. López-Sendón JL, Royuela A, Trigo P, Orth M, Lange H, Reilmann R, Keylock J, Rickards H, Piacentini S, Squitieri F, Landwehrmeyer B, Witjes-Ane MN, Jurgens CK, Roos RA, Abraira V, de Yébenes JG; and the European HD Network. Mov Disord. 2011 Mar 22.
-    “Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cells”. Squitieri F, Maglione V, Orobello S, Fornai F.. J Neural Transm. 2011 Apr 26.
-    “Truncated Peroxisome Proliferator-Activated Receptor-γ Coactivator 1α Splice Variant Is Severely Altered in Huntington’s Disease”. Johri A, Starkov AA, Chandra A, Hennessey T, Sharma A, Orobello S, Squitieri F, Yang L, Beal MF. Neurodegener Dis. 2011 Jul 15

*Corresponding authorship.

•    Riluzolo
•    Ethil-Epa (Amarin)
•    ACR 16 – Neurosearch
•    Horizon – Dimebon 20