Pubblicazioni

Pubblicazioni 2017-07-27T09:43:37+00:00

Pubblicazioni Scientifiche

Esempi di campi di approfondimento in pubblicazioni a livello internazionale dall’anno 2012 ad oggi

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O’Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O’Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661.

PMID: 27571260

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

Vaudano AE, Olivotto S, Ruggieri A, Gessaroli G, De Giorgis V, Parmeggiani A, Veggiotti P, Meletti S.

Neuroimage Clin. 2016 Dec 21;13:446-454. doi: 10.1016/j.nicl.2016.12.026.

PMID: 28116237

Long-term follow-up of cognitive functions in patients with continuous spike-waves during sleep (CSWS).

Maltoni L, Posar A, Parmeggiani A.

Epilepsy Behav. 2016 Jul;60:211-7. doi: 10.1016/j.yebeh.2016.04.006.

PMID: 27240307

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01).

Rosati A, Ilvento L, L’Erario M, De Masi S, Biggeri A, Fabbro G, Bianchi R, Stoppa F, Fusco L, Pulitanò S, Battaglia D, Pettenazzo A, Sartori S, Biban P, Fontana E, Cesaroni E, Mora D, Costa P, Meleleo R, Vittorini R, Conio A, Wolfler A, Mastrangelo M, Mondardini MC, Franzoni E, McGreevy KS, Di Simone L, Pugi A, Mirabile L, Vigevano F, Guerrini R.

BMJ Open. 2016 Jun 15;6(6):e011565. doi: 10.1136/bmjopen-2016-011565.

PMID: 27311915

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R.

Neurology. 2016 Mar 29;86(13):1250-9. doi: 10.1212/WNL.0000000000002526.

PMID: 26944271

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2016 Nov 10. doi: 10.1038/gim.2016.176. [Epub ahead of print]

PMID: 27831545

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M.

Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1.

PMID: 26236399

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.

Severi G, Bernardini L, Briuglia S, Bigoni S, Buldrini B, Magini P, Dentici ML, Cordelli DM, Arrigo T, Franzoni E, Fini S, Italyankina E, Loddo I, Novelli A, Graziano C.

Am J Med Genet A. 2016 Jan;170A(1):162-9. doi: 10.1002/ajmg.a.37346.

PMID: 26333654

Prognostic factors of drug-resistant epilepsy in childhood: An Italian study.

Russo A, Posar A, Conti S, Parmeggiani A.

Pediatr Int. 2015 Dec;57(6):1143-8. doi: 10.1111/ped.12705.

PMID: 26010019

Refractory absence seizures: An Italian multicenter retrospective study.

Franzoni E, Matricardi S, Di Pisa V, Capovilla G, Romeo A, Tozzi E, Pruna D, Salerno GG, Zamponi N, Accorsi P, Giordano L, Coppola G, Cerminara C, Curatolo P, Nicita F, Spalice A, Grosso S, Pavone P, Striano P, Parisi P, Boni A, Gobbi G, Carotenuto M, Esposito M, Cottone C, Verrotti A.

Eur J Paediatr Neurol. 2015 Nov;19(6):660-4. doi: 10.1016/j.ejpn.2015.07.008.

PMID: 26239083

PRES in Children Undergoing Hematopoietic Stem Cell or Solid Organ Transplantation.

Masetti R, Cordelli DM, Zama D, Vendemini F, Biagi C, Franzoni E, Pession A.

Pediatrics. 2015 May;135(5):890-901. doi: 10.1542/peds.2014-2325. Review.

PMID: 25917987 Free Article

The impact of internalizing symptoms on autistic traits in adolescents with restrictive anorexia nervosa.

Calderoni S, Fantozzi P, Balboni G, Pagni V, Franzoni E, Apicella F, Narzisi A, Maestro S, Muratori F.

Neuropsychiatr Dis Treat. 2015 Jan 5;11:75-85. doi: 10.2147/NDT.S73235.

PMID: 25609969

miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6.

Franzoni E, Booker SA, Parthasarathy S, Rehfeld F, Grosser S, Srivatsa S, Fuchs HR, Tarabykin V, Vida I, Wulczyn FG.

Elife. 2015 Jan 3;4. doi: 10.7554/eLife.04263.

PMID: 25556700

Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.

Dazzo E, Santulli L, Posar A, Fattouch J, Conti S, Lodén-van Straaten M, Mijalkovic J, De Bortoli M, Rosa M, Millino C, Pacchioni B, Di Bonaventura C, Giallonardo AT, Striano S, Striano P, Parmeggiani A, Nobile C.

Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004.

PMID: 25616465

Erratum to: Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A.

J Neurol. 2015 Jan;262(1):124-5. doi: 10.1007/s00415-014-7579-1. No abstract available.

PMID: 25428530

Long-term outcome of epilepsy in patients with Prader-Willi syndrome.

Verrotti A, Cusmai R, Laino D, Carotenuto M, Esposito M, Falsaperla R, Margari L, Rizzo R, Savasta S, Grosso S, Striano P, Belcastro V, Franzoni E, Curatolo P, Giordano L, Freri E, Matricardi S, Pruna D, Toldo I, Tozzi E, Lobefalo L, Operto F, Altobelli E, Chiarelli F, Spalice A.

J Neurol. 2015 Jan;262(1):116-23. doi: 10.1007/s00415-014-7542-1. Erratum in: J Neurol. 2015 Jan;262(1):124-5. Carotenuto, Marco [added]; Esposito, Maria [added].

PMID: 25326049

Risk factor analysis of posterior reversible encephalopathy syndrome after allogeneic hematopoietic SCT in children.

Zama D, Masetti R, Cordelli DM, Vendemini F, Giordano L, Milito G, Franzoni E, Porta F, Prete A, Rondelli R, Pession A.

Bone Marrow Transplant. 2014 Dec;49(12):1538-40. doi: 10.1038/bmt.2014.182. No abstract available.

PMID: 25133894

Inflammatory disease of the central nervous system induced by anti-GD2 monoclonal antibody in a patient with high risk neuroblastoma.

Zama D, Morello W, Masetti R, Cordelli DM, Massaccesi E, Prete A, Pession A.

Pediatr Blood Cancer. 2014 Aug;61(8):1521-2. doi: 10.1002/pbc.24982. No abstract available.

PMID: 24535934

Neuropsychological implications of adjunctive levetiracetam in childhood epilepsy.

Posar A, Salerno GG, Monti M, Santucci M, Scaduto MC, Parmeggiani A.

J Pediatr Neurosci. 2014 May;9(2):115-20. doi: 10.4103/1817-1745.139282.

PMID: 2525006

Panayiotopoulos syndrome with convulsive status epilepticus at the onset: a long-term study.

Verrotti A, Sebastiani M, Giordano L, Striano P, Belcastro V, Franzoni E, Parisi P, Pruna D, Spalice A, Vignoli A, Grosso S.

Seizure. 2014 Oct;23(9):728-31. doi: 10.1016/j.seizure.2014.05.013.

PMID: 24954897

Cerebral ischemic involvement in Vogt-Koyanagi-Harada disease.

Vergaro R, Cordelli DM, Miniaci A, Tassinari D, Spinardi L, Pession A, Franzoni E.

Pediatr Neurol. 2014 Jul;51(1):119-22. doi: 10.1016/j.pediatrneurol.2014.03.004.

PMID: 24830768

Co-occurring malformations of cortical development and SCN1A gene mutations.

Barba C, Parrini E, Coras R, Galuppi A, Craiu D, Kluger G, Parmeggiani A, Pieper T, Schmitt-Mechelke T, Striano P, Giordano F, Blumcke I, Guerrini R.

Epilepsia. 2014 Jul;55(7):1009-19. doi: 10.1111/epi.12658.

PMID: 24902755

Life-threatening complications of posterior reversible encephalopathy syndrome in children.

Cordelli DM, Masetti R, Ricci E, Toni F, Zama D, Maffei M, Gentili A, Parmeggiani A, Pession A, Franzoni E.

Eur J Paediatr Neurol. 2014 Sep;18(5):632-40. doi: 10.1016/j.ejpn.2014.04.014.

PMID: 24814477

Long-term follow-up in children with benign convulsions associated with gastroenteritis.

Verrotti A, Moavero R, Vigevano F, Cantonetti L, Guerra A, Spezia E, Tricarico A, Nanni G, Agostinelli S, Chiarelli F, Parisi P, Capovilla G, Beccaria F, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Cusmai R.

Eur J Paediatr Neurol. 2014 Sep;18(5):572-7. doi: 10.1016/j.ejpn.2014.04.006.

PMID: 24780603

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M.

Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070.

PMID: 24556213

Follow-up of bone mineral density and body composition in adolescents with restrictive anorexia nervosa: role of dual-energy X-ray absorptiometry.

Franzoni E, Ciccarese F, Di Pietro E, Facchini G, Moscano F, Iero L, Monaldi A, Battista G, Bazzocchi A.

Eur J Clin Nutr. 2014 Feb;68(2):247-52. doi: 10.1038/ejcn.2013.254.

PMID: 24346474

Early onset absence epilepsy with onset in the first year of life: a multicenter cohort study.

Giordano L, Vignoli A, Cusmai R, Parisi P, Mastrangelo M, Coppola G, Cordelli DM, Accorsi P, Milito G, Darra F, Pruna D, Belcastro V, Verrotti A, Striano P.

Epilepsia. 2013 Oct;54 Suppl 7:66-9. doi: 10.1111/epi.12311.

PMID: 24099057

Etiology, characteristics and outcome of seizures after pediatric hematopoietic stem cell transplantation.

Cordelli DM, Masetti R, Zama D, Gueraldi D, Rondelli R, Cottone C, Prete A, Pession A, Franzoni E.

Seizure. 2014 Feb;23(2):140-5. doi: 10.1016/j.seizure.2013.11.003.

PMID: 24287078

Electroclinical Features and Long-Term Outcome of Cryptogenic Epilepsy in Children with Down Syndrome.

Verrotti A, Cusmai R, Nicita F, Pizzolorusso A, Elia M, Zamponi N, Cesaroni E, Granata T, De Giorgi I, Giordano L, Grosso S, Pavone P, Franzoni E, Coppola G, Cerminara C, Curatolo P, Savasta S, Striano P, Parisi P, Romeo A, Spalice A.

J Pediatr. 2013 Aug 27. doi:pii: S0022-3476(13)00880-9. 10.1016/j.jpeds.2013.07.022. [Epub ahead of print]

Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA?

Cordelli DM, Pellicciari A, Kiriazopulos D, Franzoni E, Garavelli L.

Epilepsia. 2013 Jul;54(7):1331-2. doi: 10.1111/epi.12204. No abstract available.

Audit of digestive complaints and psychopathological traits in patients with eating disorders: a prospective study.

Salvioli B, Pellicciari A, Iero L, Di Pietro E, Moscano F, Gualandi S, Stanghellini V, De Giorgio R, Ruggeri E, Franzoni E.

Dig Liver Dis. 2013 Aug;45(8):639-44. doi: 10.1016/j.dld.2013.02.022. Epub 2013 Apr 9.

The relationship between alexithymia, shame, trauma, and body image disorders: investigation over a large clinical sample.

Franzoni E, Gualandi S, Caretti V, Schimmenti A, Di Pietro E, Pellegrini G, Craparo G, Franchi A, Verrotti A, Pellicciari A.

Neuropsychiatr Dis Treat. 2013;9:185-93. doi: 10.2147/NDT.S34822. Epub 2013 Feb 18.

Drama therapy and eating disorders: a historical perspective and an overview of a Bolognese project for adolescents.

Pellicciari A, Rossi F, Iero L, Di Pietro E, Verrotti A, Franzoni E.

J Altern Complement Med. 2013 Jul;19(7):607-12. doi: 10.1089/acm.2011.0623. Epub 2013 Feb 12.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E.

Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15.

Lacosamide in pediatric and adult patients: comparison of efficacy and safety.

Verrotti A, Loiacono G, Pizzolorusso A, Parisi P, Bruni O, Luchetti A, Zamponi N, Cappanera S, Grosso S, Kluger G, Janello C, Franzoni E, Elia M, Spalice A, Coppola G, Striano P, Pavone P, Savasta S, Viri M, Romeo A, Aloisi P, Gobbi G, Ferretti A, Cusmai R, Curatolo P.

Seizure. 2013 Apr;22(3):210-6. doi: 10.1016/j.seizure.2012.12.009. Epub 2013 Jan 5.

Reflex myoclonic epilepsy in infancy: a multicenter clinical study.

Verrotti A, Matricardi S, Capovilla G, D’Egidio C, Cusmai R, Romeo A, Pruna D, Pavone P, Cappanera S, Granata T, Gobbi G, Striano P, Grosso S, Parisi P, Franzoni E, Striano S, Spalice A, Marino R, Vigevano F, Coppola G.

Epilepsy Res. 2013 Feb;103(2-3):237-44. doi: 10.1016/j.eplepsyres.2012.07.004. Epub 2012 Jul 20.

Expression of Toll-like receptors in the developing brain.

Kaul D, Habbel P, Derkow K, Krüger C, Franzoni E, Wulczyn FG, Bereswill S, Nitsch R, Schott E, Veh R, Naumann T, Lehnardt S.

PLoS One. 2012;7(5):e37767. doi: 10.1371/journal.pone.0037767. Epub 2012 May 30.

An unconventional role for miRNA: let-7 activates Toll-like receptor 7 and causes neurodegeneration.

Lehmann SM, Krüger C, Park B, Derkow K, Rosenberger K, Baumgart J, Trimbuch T, Eom G, Hinz M, Kaul D, Habbel P, Kälin R, Franzoni E, Rybak A, Nguyen D, Veh R, Ninnemann O, Peters O, Nitsch R, Heppner FL, Golenbock D, Schott E, Ploegh HL, Wulczyn FG, Lehnardt S.

Nat Neurosci. 2012 Jun;15(6):827-35. doi: 10.1038/nn.3113.

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, Gnudi S, Talim B, Ferlini A, Cicognani A, Franzoni E.

Muscle Nerve. 2012 Jun;45(6):796-802. doi: 10.1002/mus.23272.

Psychotic episode during steroid therapy in hashimoto encephalopathy.

Pellicciari A, Cordelli DM, Leo I, Di Pietro E, Aldrovandi A, Franzoni E.

J Neuropsychiatry Clin Neurosci. 2012 Winter;24(1):E45-6. doi: 10.1176/appi.neuropsych.11030061. No abstract available.

Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment.

Di Pisa V, Cecconi I, Gentile V, Di Pietro E, Marchiani V, Verrotti A, Franzoni E.

J Child Neurol. 2012 Dec;27(12):1593-6. doi: 10.1177/0883073812436424. Epub 2012 Feb 28.

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E.

Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15.

The characteristics and activities of child and adolescent mental health services in Italy: a regional survey.

Pedrini L, Colasurdo G, Costa S, Fabiani M, Ferraresi L, Franzoni E, Masina F, Moschen R, Neviani V, Palazzi S, Parisi R, Parmeggiani A, Preti A, Ricciutello C, Rocchi MB, Sisti D, Squarcia A, Trebbi S, Turchetti D, Visconti P, Tullini A, de Girolamo G; PREMIA Group.

BMC Psychiatry. 2012 Jan 30;12:7. doi: 10.1186/1471-244X-12-7.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O’Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ.

Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.