b i o i n f o r m a t i c s @ e m e d e a . i t Bioinformatic Lab IRCCS "E.Medea"

Publications

2016

Cagliani R, Forni D, Filippi G, Mozzi A, De Gioia L, Pontremoli C, Pozzoli U, Bresolin N, Clerici M, Sironi M The mammalian complement system as an epitome of host-pathogen genetic conflicts. Mol Ecol. 2016 Feb 2. doi: 10.1111/mec.13558

Forni D, Cagliani R, Mozzi A, Pozzoli U, Al-Daghri N, Clerici M, Sironi M. Extensive positive selection drives the evolution of non-structural proteins in lineage C Betacoronaviruses. J Virol. 2016 Jan 20. pii: JVI.02988-15

2015

Forni D, Martin D, Abujaber R, Sharp AJ, Sironi M, Hollox E. Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data. BMC Genomics. 2015 Nov 2;16(1):891

Forni D, Filippi G, Cagliani R, De Gioia L, Pozzoli U, Al-Daghri N, Clerici M, Sironi M. The heptad repeat region is a major selection target in MERS-CoV and related coronaviruses. Sci Rep. 2015 Sep 25;5:14480

Forni D, Pontremoli C, Cagliani R, Pozzoli U, Clerici M, Sironi M. Positive selection underlies the species-specific binding of Plasmodium falciparum RH5 to human basigin. Mol Ecol. 2015 Sep;24(18):4711-22

Pontremoli C, Mozzi A, Forni D, Cagliani R, Pozzoli U, Menozzi G, Vertemara J, Bresolin N, Clerici M, Sironi M. Natural selection at the brush-border: adaptations to carbohydrate diets in humans and other mammals. Genome Biol Evol. 2015 Aug 28;7(9):2569-84

Provenzi L, Fumagalli M, Sirgiovanni I, Giorda R, Pozzoli U, Morandi F, Beri S, Menozzi G, Mosca F, Borgatti R, Montirosso R. Pain-related stress during the Neonatal Intensive Care Unit stay and SLC6A4 methylation in very preterm infants. Front Behav Neurosci. 2015 Apr 21;9:99.

Polley S, Louzada S, Forni D, Sironi M, Balaskas T, Hains DS, Yang F, Hollox EJ. Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy. Proc Natl Acad Sci USA. 2015 Apr 21;112(16):5105-10

Cagliani R, Forni D, Tresoldi C, Pozzoli U, Filippi G, Rainone V, De Gioia L, Clerici M, Sironi M. RIG-I-like receptors evolved adaptively in mammals, with parallel evolution at LGP2 and RIG-I. J Mol Biol. 2014 Mar 20;426(6):1351-65

Sironi M, Cagliani R, Forni D, Clerici M. Evolutionary insights into host-pathogen interactions from mammalian sequence data. Nat Rev Genet. 2015 Apr;16(4):224-36

Polley S, Louzada S, Forni D, Sironi M, Balaskas T, Hains DS, Yang F, Hollox EJ Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy. Proc Natl Acad Sci USA. 2015 Apr 6

Mozzi A, Pontremoli C, Forni D, Clerici M, Pozzoli U, Bresolin N, Cagliani R, Sironi M. OASes and STING: adaptive evolution in concert. Genome Biol Evol. 2015 Mar 9

Forni D, Mozzi A, Pontremoli C, Vertemara J, Pozzoli U, Biasin M, Bresolin N, Clerici M, Cagliani R, Sironi M. Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets. RNA Biol. 2015 Feb;12(2):149-61

Provenzi L, Borgatti R, Menozzi G, Montirosso R. A dynamic system analysis of dyadic flexibility and stability across the Face-to-Face Still-Face procedure: Application of the State Space Grid. Infant Behav Dev. 2015 Feb;38:1-10

2014

Forni D, Pozzoli U, Cagliani R, Tresoldi C, Menozzi G, Riva S, Guerini FR, Comi GP, Bolognesi E, Bresolin N, Clerici M, Sironi M. Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders. Genome Biol. 2014;15(10):499

Mozzi A, Forni D, Cagliani R, Pozzoli U, Vertemara J, Bresolin N, Sironi M. Albuminoid genes: evolving at the interface of dispensability and selection. Genome Biol Evol. 2014 Oct 27;6(11):2983-97

Sironi M, Biasin M, Gnudi F, Cagliani R, Saulle I, Forni D, Rainone V, Trabattoni D, Garziano M, Mazzotta F, Real LM, Rivero-Juarez A, Caruz A, Lo Caputo S, Clerici M. A regulatory polymorphism in HAVCR2 modulates susceptibility to HIV-1 infection. PLoS One. 2014 Sep 2;9(9)

Sironi M, Cagliani R, Pontremoli C, Rossi M, Migliorino G, Clerici M, Gori A. The CCR5Δ32 allele is not a major predisposing factor for severe H1N1pdm09 infection. BMC Res Notes. 2014 Aug 7;7:504

Guerini FR, Agliardi C, Sironi M, Arosio B, Calabrese E, Zanzottera M, Bolognesi E, Ricci C, Costa AS, Galimberti D, Griffanti L, Bianchi A, Savazzi F, Mari D, Scarpini E, Baglio F, Nemni R, Clerici M. Possible association between SNAP-25 single nucleotide polymorphisms and alterations of categorical fluency and functional MRI parameters in Alzheimer's disease. J Alzheimers Dis. 2014;42(3):1015-28

Sironi M, Biasin M, Cagliani R, Gnudi F, Saulle I, Ibba S, Filippi G, Yahyaei S, Tresoldi C, Riva S, Trabattoni D, De Gioia L, Lo Caputo S, Mazzotta F, Forni D, Pontremoli C, Pineda JA, Pozzoli U, Rivero-Juarez A, Caruz A, Clerici M. Evolutionary analysis identifies an MX2 haplotype associated with natural resistance to HIV-1 infection. Mol Biol Evol. 2014 Sep;31(9):2402-14

Fumagalli M, Sironi M. Human genome variability, natural selection and infectious diseases. Curr Opin Immunol. 2014 Oct;30:9-16

Guerini FR, Clerici M, Cagliani R, Malhotra S, Montalban X, Forni D, Agliardi C, Riva S, Caputo D, Galimberti D, Asselta R, Fenoglio C, Scarpini E, Comi GP, Bresolin N, Comabella M, Sironi M. No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis. J Neuroimmunol. 2014 Jun 15;271(1-2):49-52

Cagliani R, Forni D, Biasin M, Comabella M, Guerini FR, Riva S, Pozzoli U, Agliardi C, Caputo D, Malhotra S, Montalban X, Bresolin N, Clerici M, Sironi M. Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors. Genome Biol Evol. 2014 Apr;6(4):830-45

Forni D, Cagliani R, Tresoldi C, Pozzoli U, De Gioia L, Filippi G, Riva S, Menozzi G, Colleoni M, Biasin M, Lo Caputo S, Mazzotta F, Comi GP, Bresolin N, Clerici M, Sironi M. An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection. PLoS Genet. 2014 Mar 27;10(3)

Cereda M, Pozzoli U, Rot G, Juvan P, Schweitzer A, Clark T, Ule J. RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing. Genome Biol. 2014 Jan 31;15(1)

Forni D, Cleynen I, Ferrante M, Cassinotti A, Cagliani R, Ardizzone S, Vermeire S, Fichera M, Lombardini M, Maconi G, de Franchis R, Asselta R, Biasin M, Clerici M, Sironi M. ABO histo-blood group might modulate predisposition to Crohn's disease and affect disease behavior. J Crohns Colitis. 2014 Jun 1;8(6):489-94

Forni D, Cagliani R, Pozzoli U, Colleoni M, Riva S, Biasin M, Filippi G, De Gioia L, Gnudi F, Comi GP, Bresolin N, Clerici M, Sironi M A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles. Immunity. 2013 Jun 27;38(6):1129-41

2013

Cagliani R, Sironi M. Pathogen-driven selection in the human genome. Int J Evol Biol. 2013;2013:204240

Cagliani R, Forni D, Riva S, Pozzoli U, Colleoni M, Bresolin N, Clerici M, Sironi M. Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations. Mol Biol Evol. 2013 Jun;30(6):1397-408

Al-Daghri NM, Clerici M, Al-Attas O, Forni D, Alokail MS, Alkharfy KM, Sabico S, Mohammed AK, Cagliani R, Sironi M. A nonsense polymorphism (R392X) in TLR5 protects from obesity but predisposes to diabetes. J Immunol. 2013 Apr 1;190(7):3716-20

Biasin M, Sironi M, Saulle I, de Luca M, la Rosa F, Cagliani R, Forni D, Agliardi C, lo Caputo S, Mazzotta F, Trabattoni D, Macias J, Pineda JA, Caruz A, Clerici M. Endoplasmic reticulum aminopeptidase 2 haplotypes play a role in modulating susceptibility to HIV infection. AIDS. 2013 Jul 17;27(11):1697-706

Cagliani R, Guerini FR, Rubio-Acero R, Baglio F, Forni D, Agliardi C, Griffanti L, Fumagalli M, Pozzoli U, Riva S, Calabrese E, Sikora M, Casals F, Comi GP, Bresolin N, Cáceres M, Clerici M, Sironi M. Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease. Hum Mutat. 2013 May;34(5):743-53

Cagliani R, Pozzoli U, Forni D, Cassinotti A, Fumagalli M, Giani M, Fichera M, Lombardini M, Ardizzone S, Asselta R, de Franchis R, Riva S, Biasin M, Comi GP, Bresolin N, Clerici M, Sironi M. Crohn's disease loci are common targets of protozoa-driven selection. Mol Biol Evol. 2013 May;30(5):1077-87

2012

Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S, Riboldi G, Magri F, Menozzi G, Bonaglia C, Rizzo F, Bresolin N, Comi GP. Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy. Sci Transl Med. 2012 Dec 19;4(165)

Al-Daghri NM, Cagliani R, Forni D, Alokail MS, Pozzoli U, Alkharfy KM, Sabico S, Clerici M, Sironi M. Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes. BMC Med. 2012 Nov 15;10:140

Fumagalli M, Fracassetti M, Cagliani R, Forni D, Pozzoli U, Comi GP, Marini F, Bresolin N, Clerici M, Sironi M. An evolutionary history of the selectin gene cluster in humans. Heredity (Edinb). 2012 Aug;109(2):117-26

Sironi M, Biasin M, Forni D, Cagliani R, De Luca M, Saulle I, Caputo SL, Mazzotta F, Macias J, Pineda JA, Caruz A, Clerici M. Genetic variability at the TREX1 locus is not associated with natural resistance to HIV-1 infection. AIDS. 2012 Jul 17;26(11):1443-5

Cagliani R, Guerini FR, Fumagalli M, Riva S, Agliardi C, Galimberti D, Pozzoli U, Goris A, Dubois B, Fenoglio C, Forni D, Sanna S, Zara I, Pitzalis M, Zoledziewska M, Cucca F, Marini F, Comi GP, Scarpini E, Bresolin N, Clerici M, Sironi M. A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis. Mol Biol Evol. 2012 Jun;29(6):1599-613

Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries. Biopreserv Biobank. 2012 Feb;10(1):29-36

Guerini FR, Cagliani R, Forni D, Agliardi C, Caputo D, Cassinotti A, Galimberti D, Fenoglio C, Biasin M, Asselta R, Scarpini E, Comi GP, Bresolin N, Clerici M, Sironi M. A functional variant in ERAP1 predisposes to multiple sclerosis. PLoS One. 2012;7(1):e29931

Cagliani R, Riva S, Marino C, Fumagalli M, D'Angelo MG, Riva V, Comi GP, Pozzoli U, Forni D, Cáceres M, Bresolin N, Clerici M, Sironi M. Variants in SNAP25 are targets of natural selection and influence verbal performances in women. Cell Mol Life Sci. 2012 May;69(10):1705-15

Sironi M, Biasin M, Cagliani R, Forni D, De Luca M, Saulle I, Lo Caputo S, Mazzotta F, Macías J, Pineda JA, Caruz A, Clerici M. A common polymorphism in TLR3 confers natural resistance to HIV-1 infection. J Immunol. 2012 Jan 15;188(2):818-23.

2011

Fumagalli M, Sironi M, Pozzoli U, Ferrer-Admettla A, Pattini L, Nielsen R Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLoS Genetics in Press Supplementary material

Cagliani R, Riva S, Pozzoli U, Fumagalli M, Comi GP, Bresolin N, Clerici M, Sironi M. Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. BMC Evolutionary Biology 11:171

Cagliani R, Fumagalli M, Guerini F, Riva S, Galimberti D, Comi GP, Agliardi C, Scarpini E, Pozzoli U and Forni D, et al. Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis. Human Genetics Jul 7

Cereda M, Sironi M, Cavalleri M, Pozzoli U. GeCo++: a C++ library for genomic features computation and annotation in the presence of variants. Bioinformatics 2011 Mar 12. [Epub ahead of print]

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP. Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. BMC Med Genet. 2011 Mar 11;12:37.

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, Konig J, Hortobágyi T, Nishimura AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B, Shaw CE, Ule J. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci. 2011 Apr;14(4):452-8.

Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP. New molecular findings in congenital myopathies due to selenoprotein N gene mutations. J Neurol Sci. 2011 Jan 15;300(1-2):107-13.

2010

Cagliani R, Riva S, Biasin M, Fumagalli M, Pozzoli U, Lo Caputo S, Mazzotta F, Piacentini L, Bresolin N, Clerici M, Sironi M. Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection. Hum Mol Genet. 2010 Dec 1;19(23):4705-14.

Cagliani R, Fumagalli M, Biasin M, Piacentini L, Riva S, Pozzoli U, Bonaglia MC, Bresolin N, Clerici M, Sironi M. Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene. Hum Genet. 2010 Dec;128(6):577-88.

Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The landscape of human genes involved in the immune response to parasitic worms. BMC Evol Biol. 2010 Aug 31;10:264.

Fumagalli M, Cagliani R, Riva S, Pozzoli U, Biasin M, Piacentini L, Comi GP, Bresolin N, Clerici M, Sironi M. Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes. Mol Biol Evol. 2010 Nov;27(11):2555-66.

Torri F, Akelai A, Lupoli S, Sironi M, Amann-Zalcenstein D, Fumagalli M, Dal Fiume C, Ben-Asher E, Kanyas K, Cagliani R, Cozzi P, Trombetti G, Strik Lievers L, Salvi E, Orro A, Beckmann JS, Lancet D, Kohn Y, Milanesi L, Ebstein RB, Lerer B, Macciardi F. Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. FASEB J. 2010 Aug;24(8):3066-82.

Cagliani R, Fumagalli M, Riva S, Pozzoli U, Fracassetti M, Bresolin N, Comi GP, Sironi M. Polymorphisms in the CPB2 gene are maintained by balancing selection and result in haplotype-preferential splicing of exon 7. Mol Biol Evol. 2010 Aug;27(8):1945-54.

Sironi M, Clerici M. The hygiene hypothesis: an evolutionary perspective. Microbes Infect. 2010 Jun;12(6):421-7.

Fagiolari G, Cappellini A, Cagliani R, Prelle A, Lucchini V, Fortunato F, Locatelli F, Crugnola V, Comi GP, Bresolin N, Moggio M, Lamperti C. Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation. J Child Neurol. 2010 Mar;25(3):312-20.

Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach. PLoS Genet. 2010 Feb 19;6(2):e1000849.

Pozzoli U, Fumagalli M, Cagliani R, Comi GP, Bresolin N, Clerici M, Sironi M. The role of protozoa-driven selection in shaping human genetic variability. Trends Genet. 2010 Mar;26(3):95-9.

Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Bresolin N, Sironi M. Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations. Pharmacogenet Genomics. 2010 Feb;20(2):131-4.

2009

Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N, Sironi M. A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime. Genes Immun. 2009 Dec;10(8):678-86.

Cagliani R, Fumagalli M, Pozzoli U, Riva S, Comi GP, Torri F, Macciardi F, Bresolin N, Sironi M. Diverse evolutionary histories for beta-adrenoreceptor genes in humans. Am J Hum Genet. 2009 Jul;85(1):64-75.

Cagliani R, Fumagalli M, Pozzoli U, Riva S, Cereda M, Comi GP, Pattini L, Bresolin N, Sironi M. A complex selection signature at the human AVPR1B gene. BMC Evol Biol. 2009 Jun 1;9:123.

Fumagalli M, Pozzoli U, Cagliani R, Comi GP, Riva S, Clerici M, Bresolin N, Sironi M. Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J Exp Med. 2009 Jun 8;206(6):1395-408.

Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'Angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT. Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. J Med Genet. 2009 May;46(5):345-51.

Fumagalli M, Cagliani R, Pozzoli U, Riva S, Comi GP, Menozzi G, Bresolin N, Sironi M. Widespread balancing selection and pathogen-driven selection at blood group antigen genes. Genome Res. 2009 Feb;19(2):199-212.

2008

Cagliani R, Fumagalli M, Riva S, Pozzoli U, Comi GP, Menozzi G, Bresolin N, Sironi M. The signature of long-standing balancing selection at the human defensin beta-1 promoter. Genome Biol. 2008;9(9):R143. Epub 2008 Sep 25.

Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat. 2008 Apr;29(4):522-31.

Pozzoli U, Menozzi G, Fumagalli M, Cereda M, Comi GP, Caglian R, Bresolin N, Sironi M. Both selective and neutral processes drive GC content evolution in the human genome. BMC Evolutionary Biology 2008 Mar;27(8):99.

2007

Pozzoli U, Menozzi G, Comi GP, Caglian R, Bresolin N, Sironi M. Intron size in mammals: complexity comes to terms with economy. Trends Genet. 2007 Jan;23(1):20-4.

2006

Sironi M, Menozzi G, Comi GP, Cereda M, Cagliani R, Bresolin N, Pozzoli U. Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns. Genome Biology. 2006 Dec 20;7(12):R120.

Sironi M, Pozzoli U, Comi GP, Riva S, Bordoni A, Bresolin N, Nag DK. A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast. FASEB J. 2006 Sep;20(11):1910-2.

2005

Sironi M, Menozzi G, Comi GP, Cagliani R, Bresolin N, Pozzoli U. Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences. Hum Mol Genet. 2005 Sep 1;14(17):2533-46.

Sironi M, Menozzi G, Comi GP, Bresolin N, Cagliani R, Pozzoli U. Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics. Trends Genet. 2005 Sep;21(9):484-8.

Pozzoli U, Sironi M. Silencers regulate both constitutive and alternative splicing events in mammals. Cell Mol Life Sci. 2005 Jul;62(14):1579-604.

Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U, Bresolin N, Comi GP. Skeletal muscle gene expression profiling in mitochondrial disorders. FASEB J. 2005 May;19(7):866-8.

2004

Pozzoli U, Riva L, Menozzi G, Cagliani R, Comi GP, Bresolin N, Giorda R, Sironi M. Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. Biochem Biophys Res Commun. 2004 Sep 17;322(2):470-6.

Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP. An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype. Hum Genet. 2004 Jun;115(1):13-8.

Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U. Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res. 2004 Mar 19;32(5):1783-91.

2003

Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G. The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. J Neurol. 2003 Jun;250(6):688-92.

Pozzoli U, Elgar G, Cagliani R, Riva L, Comi GP, Bresolin N, Bardoni A, Sironi M. Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. Genome Res. 2003 May;13(5):764-72.

Sironi M, Pozzoli U, Cagliani R, Giorda R, Comi GP, Bardoni A, Menozzi G, Bresolin N. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet. 2003 Mar;112(3):272-88.

Sironi M, Cagliani R, Comi GP, Pozzoli U, Bardoni A, Giorda R, Bresolin N. Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles. FEBS Lett. 2003 Feb 27;537(1-3):30-4.

2002

Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R, Bresolin N. The dystrophin gene is alternatively spliced throughout its coding sequence. FEBS Lett. 2002 Apr 24;517(1-3):163-6.

Pozzoli U, Sironi M, Cagliani R, Comi GP, Bardoni A, Bresolin N. Comparative analysis of the human dystrophin and utrophin gene structures. Genetics. 2002 Feb;160(2):793-8.

2001

Sironi M, Pozzoli U, Cagliani R, Comi GP, Bardoni A, Bresolin N. Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms. Hum Genet. 2001 Jul;109(1):73-84.